Antonarakis, Stylianos

Title	Published in	Year	Views	Downloads
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia	Genome research	2025	44	11
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency	Human Molecular Genetics	2020	413	1
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy	American Journal of Human Genetics	2020	270	0
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects	American Journal of Human Genetics	2020	428	0
SCN8A heterozygous variants are associated with anoxic-epileptic seizures	American Journal of Medical Genetics. A	2020	275	1
Chromatin three-dimensional interactions mediate genetic effects on gene expression	Science	2019	358	2
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder	Neuropediatrics	2018	587	2
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay	Genetics in Medicine	2018	578	284
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3	Human molecular genetics online	2018	75	69
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing	Cell Reports	2018	455	338
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother	Journal of Human Genetics	2018	458	497
The effect of genetic variation on promoter usage and enhancer activity	Nature Communications	2017	372	197
Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors	The Journal of Pathology	2017	677	2
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells	Nature Communications	2017	499	588
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients	Translational Psychiatry	2017	627	214
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy	American Journal of Medical Genetics. A	2017	545	2
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets	Bioinformatics	2017	435	123
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome	eLife	2017	440	238
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3	Circulation: Cardiovascular Genetics	2017	500	309
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	American journal of human genetics	2016	652	375
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome	American journal of human genetics	2016	628	192
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation	Cerebellum	2016	688	4
HGVS Recommendations for the Description of Sequence Variants: 2016 Update	Human mutation	2016	583	0
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing	Scientific reports	2016	576	242
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree	Human genomics	2016	555	291
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells	Cell	2016	552	655
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication	Genome research	2016	567	356
The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery	Cell	2016	491	0
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy	American journal of human genetics	2016	697	260
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics	2016	742	298
Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma	Human genome meeting 2016	2016	4	4
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma	Nature genetics	2016	880	8
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)	Human molecular genetics	2015	607	0
The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype	BMC genomics	2015	708	328
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells	PloS one	2015	682	337
Galanin pathogenic mutations in temporal lobe epilepsy	Human molecular genetics	2015	554	0
CATCHing putative causative variants in consanguineous families	BMC bioinformatics	2015	621	215
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region	PLOS genetics	2015	607	267
Biased allelic expression in human primary fibroblast single cells	American journal of human genetics	2015	607	0
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis	Sexual development	2015	749	0
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders	Genome research	2015	550	2
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins	PloS one	2015	661	460
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing	PLOS genetics	2015	724	291
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation	Nature	2015	559	0
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21	Stem cells	2015	730	548
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration	Stem cells	2015	650	0
Familial epilepsy in Algeria: Clinical features and inheritance profiles	Seizure	2015	560	0
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome	Science	2015	540	1
Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions	Omics	2015	551	0
Next generation diagnostics on cardiomyopathy	Molecular cytogenetics	2014	677	206
MOOCs: la fin des facultés de médecine conventionnelles ?	Revue médicale suisse	2014	528	8
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders	Clinical genetics	2014	746	0
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Human mutation	2014	697	4
Domains of genome-wide gene expression dysregulation in Down's syndrome	Nature	2014	706	2
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster	Genome research	2014	667	0
Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans	American journal of human genetics	2014	665	1
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes	PloS one	2014	767	482
Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants	PloS one	2014	648	330
Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in down syndrome	Genetics	2014	803	1
Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling	PLOS genetics	2014	723	316
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report	BMC medical genetics	2014	566	217
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly	Human mutation	2014	680	4
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy	Neurology	2014	708	481
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	Genomics data	2014	558	1
Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nature communications	2014	771	251
Analysis of the Born in Bradford birth cohort	Lancet	2014	758	4
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	EMBO molecular medicine	2014	748	510
Guidelines for investigating causality of sequence variants in human disease	Nature	2014	689	361
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations	Nature communications	2014	646	217
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia	Bone	2014	613	0
Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes	Molecular biology and evolution	2013	712	0
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome	Genome research	2013	746	590
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature	American journal of medical genetics. Part B, Neuropsychiatric genetics	2013	638	0
Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome	Genome research	2013	710	516
Passive and active DNA methylation and the interplay with genetic variation in gene regulation	eLife	2013	775	530
Pathogenic variants in non-protein-coding sequences	Clinical genetics	2013	581	0
Transcriptome and genome sequencing uncovers functional variation in humans	Nature	2013	720	3
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity	European journal of human genetics	2013	648	393
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm	Retrovirology	2013	616	296
Assessment of transcript reconstruction methods for RNA-seq	Nature methods	2013	681	359
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia	American journal of human genetics	2013	574	0
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications	Stem cell research	2013	658	0
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study	Clinical genetics	2013	677	2
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome	Blood	2013	673	0
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories	Nature biotechnology	2013	634	1
Genetic and epigenetic regulation of human lincRNA gene expression	American journal of human genetics	2013	677	0
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas	Cancer research	2012	712	1
Genomic determinants in the phenotypic variability of Down syndrome	Progress in brain research	2012	682	0
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB	Human mutation	2012	594	0
BLUEPRINT to decode the epigenetic signature written in blood	Nature biotechnology	2012	537	1
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus	European journal of human genetics	2012	644	0
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion	Journal of medical genetics	2012	775	0
An integrated encyclopedia of DNA elements in the human genome	Nature	2012	702	0
Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?	European journal of medical genetics	2012	682	0
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients	Molecular neurobiology	2012	512	0
Landscape of transcription in human cells	Nature	2012	888	822
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled	PloS one	2012	759	470
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma	Nature genetics	2012	681	3
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes	Human molecular genetics	2012	622	1
High-throughput sequencing and rare genetic diseases	Molecular syndromology	2012	628	288
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele	Journal of medical genetics	2012	690	0
Evidence for transcript networks composed of chimeric RNAs in human cells	PloS one	2012	1,152	566
From sequence to functional understanding: the difficult road ahead	Genome medicine	2011	619	161
Systems medicine and integrated care to combat chronic noncommunicable diseases	Genome medicine	2011	663	625
Mouse models for Down syndrome-associated developmental cognitive disabilities	Developmental neuroscience	2011	557	0
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report	Genetics in medicine	2011	659	2
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing	The Journal of biological chemistry	2011	551	0
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts	Genome research	2011	733	353
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia	European journal of medical genetics	2011	723	0
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice	Journal of medical genetics	2011	673	0
A user's guide to the encyclopedia of DNA elements (ENCODE)	PLoS biology	2011	720	940
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus	Nature	2011	806	2
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma	PloS one	2011	636	509
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing	Investigative ophthalmology & visual science	2011	619	0
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences	PloS one	2011	673	426
DNA methylation profiles of human active and inactive X chromosomes	Genome research	2011	668	0
Regulation of fibrinogen production by microRNAs	Blood	2010	630	0
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism	Nature	2010	660	379
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats	Human molecular genetics	2010	572	0
A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes	PloS one	2010	759	298
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features	Clinical genetics	2010	683	0
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents	Genetics in medicine	2010	578	0
Down syndrome: from understanding the neurobiology to therapy	The Journal of neuroscience	2010	708	2
A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus	PloS one	2010	860	443
Mendelian disorders and multifactorial traits: the big divide or one for all?	Nature reviews. Genetics	2010	633	0
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation	American journal of medical genetics. Part A	2010	547	0
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15	Genome research	2010	555	0
Eye Gaze During Face Processing in Children and Adolescents With 22q11.2 Deletion Syndrome	Journal of the American Academy of Child and Adolescent Psychiatry	2010	776	9
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes	GenomeBiology.com	2010	661	460
Genetic structure of Europeans: a view from the North-East	PloS one	2009	778	2,080
Identifying protein-coding genes in genomic sequences	GenomeBiology.com	2009	671	395
Common regulatory variation impacts gene expression in a cell type-dependent manner	Science	2009	683	2
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening	PLOS genetics	2009	715	564
Transcriptional and post-transcriptional profile of human chromosome 21	Genome research	2009	714	0
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation	Human mutation	2009	667	0
Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms	European journal of medical genetics	2009	693	0
Common genetic variation and the control of HIV-1 in humans	PLOS genetics	2009	1,257	346
The genome sequence of taurine cattle: a window to ruminant biology and evolution	Science	2009	734	5
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres	Journal of neuroscience research	2009	661	0
A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome	Human molecular genetics	2009	608	0
Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype	The Journal of immunology	2009	527	0
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21	European journal of human genetics	2009	743	0
Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing	PloS one	2009	872	349
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls	Human mutation	2009	473	0
Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening	Cancer research	2008	616	0
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients	American journal of medical genetics. Part A	2008	679	0
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness	Frontiers in bioscience	2008	930	692
CNVs and genetic medicine (excitement and consequences of a rediscovery)	Cytogenetic and genome research	2008	572	0
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3	Mammalian genome	2008	711	400
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes	The New England journal of medicine	2008	712	2,102
Functional genetic variation of human miRNAs and phenotypic consequences	Mammalian genome	2008	596	309
Mapping of small RNAs in the human ENCODE regions	American journal of human genetics	2008	620	0
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells	GenomeBiology.com	2008	662	435
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations	Human mutation	2008	737	0
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy	Human mutation	2008	756	0
Efficient targeted transcript discovery via array-based normalization of RACE libraries	Nature methods	2008	697	513
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore	Molecular pharmacology	2008	684	0
Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development	American journal of human genetics	2008	684	528
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome	American journal of human genetics	2008	642	0
Welcome to PathoGenetics	PathoGenetics	2008	658	187
Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin	Nucleic acids research	2008	580	443
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome	Proceedings of the National Academy of Sciences of the United States of America	2008	570	0
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1	PLoS biology	2008	737	425
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events	American journal of medical genetics. Part A	2008	729	4
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions	Genome research	2007	639	0
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution	Genome research	2007	545	0
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation	American journal of medical genetics. Part A	2007	639	0
Gene duplication: a drive for phenotypic diversity and cause of human disease	Annual review of genomics and human genetics	2007	639	0
Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome	Human brain mapping	2007	546	0
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother	Brain & development	2007	580	0
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease	Human mutation	2007	665	0
A whole-genome association study of major determinants for host control of HIV-1	Science	2007	766	935
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome	Genome research	2007	642	1
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance	American journal of human genetics	2007	711	0
Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements	Proceedings of the National Academy of Sciences of the United States of America	2007	582	0
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1	American journal of human genetics	2007	662	0
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21	Genome research	2007	646	0
Structured RNAs in the ENCODE selected regions of the human genome	Genome research	2007	586	0
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability	Nature reviews. Genetics	2007	618	0
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes	American journal of human genetics	2007	713	0
Early history of mammals is elucidated with the ENCODE multiple species sequencing data	PLOS genetics	2007	719	710
Promoter polymorphisms and allelic imbalance in ABCB1 expression	Pharmacogenetics and genomics	2007	637	0
The implications of alternative splicing in the ENCODE protein complement	Proceedings of the National Academy of Sciences of the United States of America	2007	554	1
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1	American journal of human genetics	2007	588	0
Mendelian disorders deserve more attention	Nature reviews. Genetics	2006	580	0
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome	The American journal of psychiatry	2006	714	464
Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis	American journal of medical genetics. Part A	2006	691	0
The challenge of Down syndrome	Trends in molecular medicine	2006	575	2
Conserved noncoding sequences are selectively constrained and not mutation cold spots	Nature genetics	2006	698	0
Tandem chimerism as a means to increase protein complexity in the human genome	Genome research	2006	618	0
GENCODE: producing a reference annotation for ENCODE	GenomeBiology.com	2006	703	419
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects	American journal of respiratory and critical care medicine	2006	689	0
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34	American journal of human genetics	2006	647	0
EGASP: the human ENCODE Genome Annotation Assessment Project	GenomeBiology.com	2006	829	433
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region	American journal of medical genetics. Part A	2006	712	0
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions	Journal of medical genetics	2006	695	0
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes	American journal of human genetics	2006	685	0
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation	American journal of medical genetics. Part A	2006	610	0
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes	Human molecular genetics	2005	606	0
Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter	EMBO reports	2005	597	0
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis	Proceedings of the National Academy of Sciences of the United States of America	2005	676	0
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes	Human molecular genetics	2005	658	0
Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass	Current opinion in lipidology	2005	578	0
LRP5 gene polymorphisms and idiopathic osteoporosis in men	Bone	2005	593	0
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro	Human mutation	2005	674	0
The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome	Human molecular genetics	2005	632	0
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations	PLOS genetics	2005	640	498
Conserved non-genic sequences - an unexpected feature of mammalian genomes	Nature reviews. Genetics	2005	568	0
Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling	Molecular genetics and genomics	2005	603	383
L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique	Revue médicale suisse	2005	575	1
Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor	Clinical pharmacology and therapeutics	2005	631	0
Gene finding in the chicken genome	BMC bioinformatics	2005	668	285
Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes	Nucleic acids research	2005	590	0
Report on the 'Expert Workshop on the Biology of Chromosome 21: towards gene-phenotype correlations in Down syndrome', held June 11-14, 2004, Washington D.C	Cytogenetic and genome research	2005	583	0
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome	Nature neuroscience	2005	548	0
Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases	The Journal of biological chemistry	2005	653	0
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein	Human genetics	2005	705	355
The human sugar-phosphate/phosphate exchanger family SLC37	Pflügers Archiv	2004	608	0
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q	Annals of neurology	2004	634	0
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin	Human mutation	2004	681	0
Association of the connexin36 gene with juvenile myoclonic epilepsy	Journal of medical genetics	2004	611	0
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome	Genome research	2004	572	0
Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites	American journal of human genetics	2004	579	0
Chromosome 21 and down syndrome: from genomics to pathophysiology	Nature reviews. Genetics	2004	794	0
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3	Human molecular genetics	2004	603	0
Detection of aneuploidies by paralogous sequence quantification	Journal of medical genetics	2004	530	0
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development	Genomics	2004	589	0
No association between DUP25 and anxiety disorders	American journal of medical genetics. Part B, Neuropsychiatric genetics	2004	643	0
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment	Genome research	2004	614	0
Genetic variability of mu-opioid receptor in an obstetric population	Anesthesiology	2004	482	0
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome	Blood	2003	665	0
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes	Proceedings of the National Academy of Sciences of the United States of America	2003	679	0
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling	Biochimica et biophysica acta	2003	651	0
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12	Gene	2003	652	0
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder	American journal of human genetics	2003	661	4
The TPTE gene family: cellular expression, subcellular localization and alternative splicing	Gene	2003	715	0
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion	Cytogenetic and genome research	2003	588	0
Mutation nomenclature	Current protocols in human genetics	2003	628	0
Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers	American journal of medical genetics. Part B, Neuropsychiatric genetics	2003	560	1
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)	Science	2003	645	0
Trapping and sequence analysis of 1138 putative exons from human chromosome 18	Molecular psychiatry	2003	558	0
Chromosome 21 and Down syndrome: the post-sequence era	Cold Spring Harbor Symposia on Quantitative Biology	2003	569	0
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome	Human genetics	2003	558	0
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg	Human mutation	2003	628	0
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients	American journal of medical genetics. Part A	2003	749	0
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia	American journal of human genetics	2003	570	1
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24	Human molecular genetics	2003	660	0
Numerous potentially functional but non-genic conserved sequences on human chromosome 21	Nature	2002	610	0
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia	Proceedings of the National Academy of Sciences of the United States of America	2002	669	0
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis	Blood	2002	653	0
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology	The International journal of developmental biology	2002	553	0
Nineteen additional unpredicted transcripts from human chromosome 21	Genomics	2002	737	0
Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2	Cytogenetic and genome research	2002	546	0
Language skills in children with velocardiofacial syndrome (deletion 22q11.2)	The Journal of pediatrics	2002	601	0
Initial sequencing and comparative analysis of the mouse genome	Nature	2002	806	6
Human chromosome 21 gene expression atlas in the mouse	Nature	2002	625	0
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro	Human molecular genetics	2002	652	0
Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors	Human genetics	2002	588	1
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects	Genomics	2002	573	2
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients	Journal of molecular medicine	2002	676	0
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness	Human mutation	2001	655	1
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP	Nature cell biology	2001	640	0
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family	Human genetics	2001	602	365
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness	Journal of medical genetics	2001	564	0
Prise en charge multidisciplinaire du cancer colorectal héréditaire	Swiss surgery	2001	861	0
APECED mutations in the autoimmune regulator (AIRE) gene	Human mutation	2001	541	0
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes	Human genetics	2001	618	0
A cSNP map and database for human chromosome 21	Genome research	2001	521	0
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map	Genomics	2001	633	0
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree	European journal of human genetics	2001	691	0
BACking up the promises	Nature genetics	2001	542	0
Frequency of replication/transcription errors in (A)/(T) runs of human genes	Human genetics	2001	556	0
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains	Human genetics	2001	650	0
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T	Blood	2001	598	0
Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome	Cytogenetics and cell genetics	2001	634	0
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness	Nature genetics	2001	645	0
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome	European journal of pediatrics	2001	597	0
Nomenclature for the description of human sequence variations	Human genetics	2001	971	0
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia	Genomics	2001	639	1
Chromosome 21: from sequence to applications	Current opinion in genetics & development	2001	569	0
Isolation and initial characterization of the mouse Dnmt3l gene	Cytogenetics and cell genetics	2001	509	0
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study	Archives of general psychiatry	2001	559	0
Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome	Human molecular genetics	2000	622	0
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21	Human genetics	2000	627	278
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)	Cytogenetics and cell genetics	2000	676	0
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse	European Journal of Immunology	2000	606	0
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein	Genomics	2000	551	0
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family	Genomics	2000	662	0
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes	European child & adolescent psychiatry	2000	652	0
Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III	American journal of human genetics	2000	625	0
Mutations in GJB6 cause hidrotic ectodermal dysplasia	Nature genetics	2000	539	0
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion	Human mutation	2000	500	0
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region	Genomics	2000	610	0
The DNA sequence of human chromosome 21	Nature	2000	1,365	3
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia	Blood	2000	588	1
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency	Genomics	2000	528	1
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein	The Journal of biological chemistry	2000	637	0
The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals	Genome research	2000	570	0
Disease-causing mutations in the human genome	European journal of pediatrics	2000	571	0
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping	European journal of human genetics	2000	606	0
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes	Molecular psychiatry	2000	650	0
OMIM passes the 1,000-disease-gene mark	Nature genetics	2000	610	0
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning	Genomics	2000	640	0
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity	European journal of human genetics	2000	643	0
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3	Advances in oto-rhino-laryngology	2000	496	0
Patterns of meiotic recombination on the long arm of human chromosome 21	Genome research	2000	608	0
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla	Biochemical and biophysical research communications	1999	643	0
Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia	The Journal of clinical investigation	1999	526	0
Mutation analyses of North American APS-1 patients	Human mutation	1999	651	0
Linearization and purification of BAC DNA for the development of transgenic mice	Transgenic research	1999	523	0
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster	European journal of human genetics	1999	561	0
A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y	Human genetics	1999	659	0
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes	Genome research	1999	673	0
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21	American journal of medical genetics	1999	621	0
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14	American journal of medical genetics	1999	462	0
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations	American journal of human genetics	1999	606	0
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency	Blood	1999	578	0
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)	Human genetics	1999	708	0
Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping	Cytogenetics and cell genetics	1999	610	1
Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1	Human molecular genetics	1999	566	0
Isolation and characterization of the mouse Aire gene	Biochemical and biophysical research communications	1999	612	0
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly	Human genetics	1998	662	0
Mind the GAP, Rho, Rab and GDI	Nature genetics	1998	548	0
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients	Human genetics	1998	609	0
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome	Genomics	1998	578	0
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2)	Genomics	1998	600	0
Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2	Cytogenetics and cell genetics	1998	562	0
APECED: a monogenic autoimmune disease providing new clues to self-tolerance	Immunology today	1998	539	0
10 years of Genomics, chromosome 21, and Down syndrome	Genomics	1998	592	0
Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility	Biological psychiatry	1998	563	0
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci	The Journal of clinical endocrinology and metabolism	1998	633	0
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group	Human mutation	1998	520	0
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset	American journal of human genetics	1998	551	0
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis	Genomics	1998	604	0
Molecular genetics of coagulation factor VIII gene and haemophilia A	Haemophilia	1998	566	0
Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7)	Genes chromosomes & cancer	1998	518	0
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21	Nature genetics	1998	577	0
Gene structure and chromosomal localization of the human P2X7 receptor	Receptors & channels	1998	635	0
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon	Genomics	1998	622	0
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins	Molecular endocrinology	1998	621	0
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity	American journal of human genetics	1998	576	0
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3	Genomics	1998	588	0
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1	Human genetics	1998	547	0
Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence	Human genetics	1998	564	0
Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2	Human genetics	1997	582	0
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15	Human genetics	1997	540	0
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)	American journal of human genetics	1997	605	0
Positional cloning of the APECED gene	Nature genetics	1997	694	1
Fortuitous detection of uniparental isodisomy of chromosome 6	Journal of medical genetics	1997	595	0
Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome	Genomics	1997	631	1
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4	American journal of human genetics	1997	524	0
The SH3D1A gene maps to human chromosome 21q22.1-->q22.2	Cytogenetics and cell genetics	1997	437	0
Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region	Genome research	1997	583	0
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region	Human genetics	1997	607	0
Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1	Proceedings of the National Academy of Sciences of the United States of America	1997	581	0
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients	American journal of medical genetics	1997	657	0
Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3	Genomics	1997	633	0
A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years	Acta neuropathologica	1997	673	0
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency	Human mutation	1997	619	0
Mutation in GLI3 in postaxial polydactyly type A	Nature genetics	1997	616	0
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	Nature	1997	660	0
Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3	Biochemical and biophysical research communications	1997	522	0
Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13	American journal of medical genetics	1997	726	0
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3	Genomics	1997	621	0
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis	American journal of human genetics	1997	590	0
Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee	Genomics	1997	640	0
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103	American journal of human genetics	1997	596	0
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region	American journal of medical genetics	1997	620	0
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3	Human genetics	1997	580	0
What is expanded in progressive myoclonus epilepsy?	Nature genetics	1997	568	0
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3	Genomics	1997	652	0
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene	American journal of human genetics	1997	530	0
The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS	Nucleic acids research	1996	718	0
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3	Human molecular genetics	1996	625	0
Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis	American journal of human genetics	1996	486	0
Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22	Annales de génétique	1996	596	0
Mapping by sequence homology	European journal of human genetics	1996	522	0
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome	Human genetics	1996	690	0
The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3	Genomics	1996	631	0
Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus	Cold Spring Harbor Symposia on Quantitative Biology	1996	474	0
Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping	Genome research	1996	587	0
A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22)	American journal of medical genetics	1996	719	0
The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene	Cytogenetics and cell genetics	1996	598	0
Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2	Genomics	1996	513	0
The human lanosterol synthase gene maps to chromosome 21q22.3	Human genetics	1996	588	0
The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes	Cold Spring Harbor Symposia on Quantitative Biology	1996	431	0
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36	American journal of medical genetics	1996	692	0
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3	American journal of human genetics	1996	493	0
Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3	Human genetics	1996	590	0
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation	Journal of medical genetics	1996	586	0
Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter	Genomics	1996	578	0
Early-onset dementias: clinical, neuropathological and genetic characteristics	Acta neuropathologica	1996	663	0
Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21	Genomics	1996	544	0
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene	Human mutation	1996	648	0
Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3	Genomics	1996	563	0
Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia	American journal of medical genetics	1995	657	0
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A	Nature genetics	1995	773	0
Molecular etiology of factor VIII deficiency in hemophilia A	Human mutation	1995	645	0
Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe	Analytical biochemistry	1995	687	0
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination	American journal of human genetics	1995	540	0
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2	Genomics	1995	542	0
Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain	Somatic cell and molecular genetics	1995	607	0
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study	Blood	1995	576	3
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells	Human molecular genetics	1995	676	0
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome	Human molecular genetics	1995	614	0
Schizophrenia and chromosomal deletions within 22q11.2	American journal of human genetics	1995	544	0
Molecular etiology of factor VIII deficiency in hemophilia A	Advances in experimental medicine and biology	1995	562	0
Characterization and chromosomal localization of a human P2X receptor from the urinary bladder	Receptors & channels	1995	589	0
Molecular genetics of coagulation factor VIII gene and hemophilia A	Thrombosis and haemostasis	1995	765	0
Single-minded and Down syndrome?	Nature genetics	1995	572	1
Schizophrenia susceptibility and chromosome 6p24-22	Nature genetics	1995	537	0
Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1	Genomics	1995	571	0
Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3	American journal of medical genetics	1995	618	0
Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21	Genomics	1995	504	0
Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes	Human mutation	1994	616	0
Discussion on mutation nomenclature	Human mutation	1994	605	0
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis	American journal of human genetics	1994	566	0
Genome linkage scanning: systematic or intelligent?	Nature genetics	1994	557	0
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives	The journal of nervous and mental disease	1994	645	0
Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene	Human molecular genetics	1994	597	0
Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically	American journal of medical genetics	1994	577	0
Dinucleotide repeat polymorphism within ERCC5 gene	Human molecular genetics	1994	654	0
Normal phenotype with paternal uniparental isodisomy for chromosome 21	American journal of human genetics	1993	626	1
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A	Nature genetics	1993	642	0
Human chromosome 21: genome mapping and exploration, circa 1993	Trends in genetics	1993	631	0
Report of the Fourth International Workshop on Human Chromosome 21	Genomics	1993	567	0

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SCN8A heterozygous variants are associated with anoxic-epileptic seizures

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Genetics in Medicine

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Cell Reports

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455

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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Journal of Human Genetics

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458

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The effect of genetic variation on promoter usage and enhancer activity

Nature Communications

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372

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Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors

The Journal of Pathology

2017

677

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Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells

Nature Communications

2017

499

588

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients

Translational Psychiatry

2017

627

214

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy

American Journal of Medical Genetics. A

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545

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MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets

Bioinformatics

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435

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The genomic landscape of human cellular circadian variation points to a novel role for the signalosome

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440

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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Circulation: Cardiovascular Genetics

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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

American journal of human genetics

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652

375

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

American journal of human genetics

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628

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Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation

Cerebellum

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human mutation

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583

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Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

Scientific reports

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576

242

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Human genomics

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555

291

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Cell

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552

655

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

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567

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The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery

Cell

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491

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

American journal of human genetics

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697

260

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

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742

298

Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma

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A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

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The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype

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708

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HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

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Galanin pathogenic mutations in temporal lobe epilepsy

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CATCHing putative causative variants in consanguineous families

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621

215

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region

PLOS genetics

2015

607

267

Biased allelic expression in human primary fibroblast single cells

American journal of human genetics

2015

607

0

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis

Sexual development

2015

749

0

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

Genome research

2015

550

2

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

PloS one

2015

661

460

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

PLOS genetics

2015

724

291

HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation

Nature

2015

559

0

Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21

Stem cells

2015

730

548

Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration

Stem cells

2015

650

0

Familial epilepsy in Algeria: Clinical features and inheritance profiles

Seizure

2015

560

0

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

Science

2015

540

1

Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions

Omics

2015

551

0

Next generation diagnostics on cardiomyopathy

Molecular cytogenetics

2014

677

206

MOOCs: la fin des facultés de médecine conventionnelles ?

Revue médicale suisse

2014

528

8

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders

Clinical genetics

2014

746

0

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families

Human mutation

2014

697

4

Domains of genome-wide gene expression dysregulation in Down's syndrome

Nature

2014

706

2

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

Genome research

2014

667

0

Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans

American journal of human genetics

2014

665

1

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes

PloS one

2014

767

482

Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants

PloS one

2014

648

330

Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in down syndrome

Genetics

2014

803

1

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

PLOS genetics

2014

723

316

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report

BMC medical genetics

2014

566

217

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

Human mutation

2014

680

4

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

Neurology

2014

708

481

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

Genomics data

2014

558

1

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

Nature communications

2014

771

251

Analysis of the Born in Bradford birth cohort

Lancet

2014

758

4

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

EMBO molecular medicine

2014

748

510

Guidelines for investigating causality of sequence variants in human disease

Nature

2014

689

361

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations

Nature communications

2014

646

217

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Bone

2014

613

0

Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes

Molecular biology and evolution

2013

712

0

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Genome research

2013

746

590

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

American journal of medical genetics. Part B, Neuropsychiatric genetics

2013

638

0

Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome

Genome research

2013

710

516

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

eLife

2013

775

530

Pathogenic variants in non-protein-coding sequences

Clinical genetics

2013

581

0

Transcriptome and genome sequencing uncovers functional variation in humans

Nature

2013

720

3

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

European journal of human genetics

2013

648

393

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm

Retrovirology

2013

616

296

Assessment of transcript reconstruction methods for RNA-seq

Nature methods

2013

681

359

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

American journal of human genetics

2013

574

0

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications

Stem cell research

2013

658

0

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

Clinical genetics

2013

677

2

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome

Blood

2013

673

0

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

Nature biotechnology

2013

634

1

Genetic and epigenetic regulation of human lincRNA gene expression

American journal of human genetics

2013

677

0

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas

Cancer research

2012

712

1

Genomic determinants in the phenotypic variability of Down syndrome

Progress in brain research

2012

682

0

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB

Human mutation

2012

594

0

BLUEPRINT to decode the epigenetic signature written in blood

Nature biotechnology

2012

537

1

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

European journal of human genetics

2012

644

0

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Journal of medical genetics

2012

775

0

An integrated encyclopedia of DNA elements in the human genome

Nature

2012

702

0

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

European journal of medical genetics

2012

682

0

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

Molecular neurobiology

2012

512

0

Landscape of transcription in human cells

Nature

2012

888

822

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

PloS one

2012

759

470

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma

Nature genetics

2012

681

3

Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

Human molecular genetics

2012

622

1

High-throughput sequencing and rare genetic diseases

Molecular syndromology

2012

628

288

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Journal of medical genetics

2012

690

0

Evidence for transcript networks composed of chimeric RNAs in human cells

PloS one

2012

1,152

566

From sequence to functional understanding: the difficult road ahead

Genome medicine

2011

619

161

Systems medicine and integrated care to combat chronic noncommunicable diseases

Genome medicine

2011

663

625

Mouse models for Down syndrome-associated developmental cognitive disabilities

Developmental neuroscience

2011

557

0

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Genetics in medicine

2011

659

2

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing

The Journal of biological chemistry

2011

551

0

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

Genome research

2011

733

353

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia

European journal of medical genetics

2011

723

0

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

Journal of medical genetics

2011

673

0

A user's guide to the encyclopedia of DNA elements (ENCODE)

PLoS biology

2011

720

940

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Nature

2011

806

2

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma

PloS one

2011

636

509

Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing

Investigative ophthalmology & visual science

2011

619

0

Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences

PloS one

2011

673

426

DNA methylation profiles of human active and inactive X chromosomes

Genome research

2011

668

0

Regulation of fibrinogen production by microRNAs

Blood

2010

630

0

New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism

Nature

2010

660

379

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

Human molecular genetics

2010

572

0

A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes

PloS one

2010

759

298

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

Clinical genetics

2010

683

0

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents

Genetics in medicine

2010

578

0

Down syndrome: from understanding the neurobiology to therapy

The Journal of neuroscience

2010

708

2

A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus

PloS one

2010

860

443

Mendelian disorders and multifactorial traits: the big divide or one for all?

Nature reviews. Genetics

2010

633

0

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation

American journal of medical genetics. Part A

2010

547

0

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

Genome research

2010

555

0

Eye Gaze During Face Processing in Children and Adolescents With 22q11.2 Deletion Syndrome

Journal of the American Academy of Child and Adolescent Psychiatry

2010

776

9

A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes

GenomeBiology.com

2010

661

460

Genetic structure of Europeans: a view from the North-East

PloS one

2009

778

2,080

Identifying protein-coding genes in genomic sequences

GenomeBiology.com

2009

671

395

Common regulatory variation impacts gene expression in a cell type-dependent manner

Science

2009

683

2

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

PLOS genetics

2009

715

564

Transcriptional and post-transcriptional profile of human chromosome 21

Genome research

2009

714

0

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation

Human mutation

2009

667

0

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

European journal of medical genetics

2009

693

0

Common genetic variation and the control of HIV-1 in humans

PLOS genetics

2009

1,257

346

The genome sequence of taurine cattle: a window to ruminant biology and evolution

Science

2009

734

5

Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres

Journal of neuroscience research

2009

661

0

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

Human molecular genetics

2009

608

0

Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype

The Journal of immunology

2009

527

0

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

European journal of human genetics

2009

743

0

Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing

PloS one

2009

872

349

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

Human mutation

2009

473

0

Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening

Cancer research

2008

616

0

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients

American journal of medical genetics. Part A

2008

679

0

TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness

Frontiers in bioscience

2008

930

692

CNVs and genetic medicine (excitement and consequences of a rediscovery)

Cytogenetic and genome research

2008

572

0

Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3

Mammalian genome

2008

711

400

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

The New England journal of medicine

2008

712

2,102

Functional genetic variation of human miRNAs and phenotypic consequences

Mammalian genome

2008

596

309

Mapping of small RNAs in the human ENCODE regions

American journal of human genetics

2008

620

0

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

GenomeBiology.com

2008

662

435

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

Human mutation

2008

737

0

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

Human mutation

2008

756

0

Efficient targeted transcript discovery via array-based normalization of RACE libraries

Nature methods

2008

697

513

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore

Molecular pharmacology

2008

684

0

Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development

American journal of human genetics

2008

684

528

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

American journal of human genetics

2008

642

0

Welcome to PathoGenetics

PathoGenetics

2008

658

187

Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin

Nucleic acids research

2008

580

443

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

Proceedings of the National Academy of Sciences of the United States of America

2008

570

0

In vitro whole-genome analysis identifies a susceptibility locus for HIV-1

PLoS biology

2008

737

425

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events

American journal of medical genetics. Part A

2008

729

4

Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions

Genome research

2007

639

0

Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution

Genome research

2007

545

0

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation

American journal of medical genetics. Part A

2007

639

0

Gene duplication: a drive for phenotypic diversity and cause of human disease

Annual review of genomics and human genetics

2007

639

0

Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome

Human brain mapping

2007

546

0

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother

Brain & development

2007

580

0

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

Human mutation

2007

665

0

A whole-genome association study of major determinants for host control of HIV-1

Science

2007

766

935

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

Genome research

2007

642

1

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

American journal of human genetics

2007

711

0

Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements

Proceedings of the National Academy of Sciences of the United States of America

2007

582

0

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1

American journal of human genetics

2007

662

0

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

Genome research

2007

646

0

Structured RNAs in the ENCODE selected regions of the human genome

Genome research

2007

586

0

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

Nature reviews. Genetics

2007

618

0

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

American journal of human genetics

2007

713

0

Early history of mammals is elucidated with the ENCODE multiple species sequencing data

PLOS genetics

2007

719

710

Promoter polymorphisms and allelic imbalance in ABCB1 expression

Pharmacogenetics and genomics

2007

637

0

The implications of alternative splicing in the ENCODE protein complement

Proceedings of the National Academy of Sciences of the United States of America

2007

554

1

Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1

American journal of human genetics

2007

588

0

Mendelian disorders deserve more attention

Nature reviews. Genetics

2006

580

0

No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome

The American journal of psychiatry

2006

714

464

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis

American journal of medical genetics. Part A

2006

691

0

The challenge of Down syndrome

Trends in molecular medicine

2006

575

2

Conserved noncoding sequences are selectively constrained and not mutation cold spots

Nature genetics

2006

698

0

Tandem chimerism as a means to increase protein complexity in the human genome

Genome research

2006

618

0

GENCODE: producing a reference annotation for ENCODE

GenomeBiology.com

2006

703

419

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

American journal of respiratory and critical care medicine

2006

689

0

Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34

American journal of human genetics

2006

647

0

EGASP: the human ENCODE Genome Annotation Assessment Project

GenomeBiology.com

2006

829

433

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region

American journal of medical genetics. Part A

2006

712

0

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

Journal of medical genetics

2006

695

0

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

American journal of human genetics

2006

685

0

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation

American journal of medical genetics. Part A

2006

610

0

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

Human molecular genetics

2005

606

0

Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter

EMBO reports

2005

597

0

Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis

Proceedings of the National Academy of Sciences of the United States of America

2005

676

0

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes

Human molecular genetics

2005

658

0

Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass

Current opinion in lipidology

2005

578

0

LRP5 gene polymorphisms and idiopathic osteoporosis in men

Bone

2005

593

0

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

Human mutation

2005

674

0

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome

Human molecular genetics

2005

632

0

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

PLOS genetics

2005

640

498

Conserved non-genic sequences - an unexpected feature of mammalian genomes

Nature reviews. Genetics

2005

568

0

Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling

Molecular genetics and genomics

2005

603

383

L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique

Revue médicale suisse

2005

575

1

Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor

Clinical pharmacology and therapeutics

2005

631

0

Gene finding in the chicken genome

BMC bioinformatics

2005

668

285

Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes

Nucleic acids research

2005

590

0

Report on the 'Expert Workshop on the Biology of Chromosome 21: towards gene-phenotype correlations in Down syndrome', held June 11-14, 2004, Washington D.C

Cytogenetic and genome research

2005

583

0

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

Nature neuroscience

2005

548

0

Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases

The Journal of biological chemistry

2005

653

0

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Human genetics

2005

705

355

The human sugar-phosphate/phosphate exchanger family SLC37

Pflügers Archiv

2004

608

0

A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q

Annals of neurology

2004

634

0

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

Human mutation

2004

681

0

Association of the connexin36 gene with juvenile myoclonic epilepsy

Journal of medical genetics

2004

611

0

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

Genome research

2004

572

0

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites

American journal of human genetics

2004

579

0

Chromosome 21 and down syndrome: from genomics to pathophysiology

Nature reviews. Genetics

2004

794

0

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3

Human molecular genetics

2004

603

0

Detection of aneuploidies by paralogous sequence quantification

Journal of medical genetics

2004

530

0

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development

Genomics

2004

589

0

No association between DUP25 and anxiety disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics

2004

643

0

Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment

Genome research

2004

614

0

Genetic variability of mu-opioid receptor in an obstetric population

Anesthesiology

2004

482

0

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

Blood

2003

665

0

Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes

Proceedings of the National Academy of Sciences of the United States of America

2003

679

0

Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling

Biochimica et biophysica acta

2003

651

0

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12

Gene

2003

652

0

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

American journal of human genetics

2003

661

4

The TPTE gene family: cellular expression, subcellular localization and alternative splicing

Gene

2003

715

0

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion

Cytogenetic and genome research

2003

588

0

Mutation nomenclature

Current protocols in human genetics

2003

628

0

Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers

American journal of medical genetics. Part B, Neuropsychiatric genetics

2003

560

1

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)

Science

2003

645

0

Trapping and sequence analysis of 1138 putative exons from human chromosome 18

Molecular psychiatry

2003

558

0

Chromosome 21 and Down syndrome: the post-sequence era

Cold Spring Harbor Symposia on Quantitative Biology

2003

569

0

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome

Human genetics

2003

558

0

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg

Human mutation

2003

628

0

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

American journal of medical genetics. Part A

2003

749

0

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia

American journal of human genetics

2003

570

1

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24

Human molecular genetics

2003

660

0

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

Nature

2002

610

0

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Proceedings of the National Academy of Sciences of the United States of America

2002

669

0

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

Blood

2002

653

0

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

The International journal of developmental biology

2002

553

0

Nineteen additional unpredicted transcripts from human chromosome 21

Genomics

2002

737

0

Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2

Cytogenetic and genome research

2002

546

0

Language skills in children with velocardiofacial syndrome (deletion 22q11.2)

The Journal of pediatrics

2002

601

0

Initial sequencing and comparative analysis of the mouse genome

Nature

2002

806

6

Human chromosome 21 gene expression atlas in the mouse

Nature

2002

625

0

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

Human molecular genetics

2002

652

0

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors

Human genetics

2002

588

1

A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects

Genomics

2002

573

2

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Journal of molecular medicine

2002

676

0

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

Human mutation

2001

655

1

Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP

Nature cell biology

2001

640

0

The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family

Human genetics

2001

602

365

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

Journal of medical genetics

2001

564

0

Prise en charge multidisciplinaire du cancer colorectal héréditaire

Swiss surgery

2001

861

0

APECED mutations in the autoimmune regulator (AIRE) gene

Human mutation

2001

541

0

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes

Human genetics

2001

618

0

A cSNP map and database for human chromosome 21

Genome research

2001

521

0

From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map

Genomics

2001

633

0

An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree

European journal of human genetics

2001

691

0

BACking up the promises

Nature genetics

2001

542

0

Frequency of replication/transcription errors in (A)/(T) runs of human genes

Human genetics

2001

556

0

Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains

Human genetics

2001

650

0

Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T

Blood

2001

598

0

Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome

Cytogenetics and cell genetics

2001

634

0

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Nature genetics

2001

645

0

Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

European journal of pediatrics

2001

597

0

Nomenclature for the description of human sequence variations

Human genetics

2001

971

0

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia

Genomics

2001

639

1

Chromosome 21: from sequence to applications

Current opinion in genetics & development

2001

569

0

Isolation and initial characterization of the mouse Dnmt3l gene

Cytogenetics and cell genetics

2001

509

0

Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study

Archives of general psychiatry

2001

559

0

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

Human molecular genetics

2000

622

0

Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21

Human genetics

2000

627

278

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)

Cytogenetics and cell genetics

2000

676

0

RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse

European Journal of Immunology

2000

606

0

Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein

Genomics

2000

551

0

Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family

Genomics

2000

662

0

Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes

European child & adolescent psychiatry

2000

652

0

Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III

American journal of human genetics

2000

625

0

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Nature genetics

2000

539

0

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Human mutation

2000

500

0

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region

Genomics

2000

610

0

The DNA sequence of human chromosome 21

Nature

2000

1,365

3

Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia

Blood

2000

588

1

Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency

Genomics

2000

528

1

The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

The Journal of biological chemistry

2000

637

0

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

Genome research

2000

570

0

Disease-causing mutations in the human genome

European journal of pediatrics

2000

571

0

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

European journal of human genetics

2000

606

0

Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes

Molecular psychiatry

2000

650

0

OMIM passes the 1,000-disease-gene mark

Nature genetics

2000

610

0

C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning

Genomics

2000

640

0

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

European journal of human genetics

2000

643

0

Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3

Advances in oto-rhino-laryngology

2000

496

0

Patterns of meiotic recombination on the long arm of human chromosome 21

Genome research

2000

608

0

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla

Biochemical and biophysical research communications

1999

643

0

Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia

The Journal of clinical investigation

1999

526

0

Mutation analyses of North American APS-1 patients

Human mutation

1999

651

0

Linearization and purification of BAC DNA for the development of transgenic mice

Transgenic research

1999

523

0

The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster

European journal of human genetics

1999

561

0

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

Human genetics

1999

659

0

A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

Genome research

1999

673

0

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

American journal of medical genetics

1999

621

0

No evidence for linkage between schizophrenia and markers at chromosome 15q13-14

American journal of medical genetics

1999

462

0

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

American journal of human genetics

1999

606

0

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency

Blood

1999

578

0

Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

Human genetics

1999

708

0

Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

Cytogenetics and cell genetics

1999

610

1

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1

Human molecular genetics

1999

566

0

Isolation and characterization of the mouse Aire gene

Biochemical and biophysical research communications

1999

612

0

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

Human genetics

1998

662

0

Mind the GAP, Rho, Rab and GDI

Nature genetics

1998

548

0

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

Human genetics

1998

609

0

Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome

Genomics

1998

578

0

Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2)

Genomics

1998

600

0

Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1-->q22.2

Cytogenetics and cell genetics

1998

562

0

APECED: a monogenic autoimmune disease providing new clues to self-tolerance

Immunology today

1998

539

0

10 years of Genomics, chromosome 21, and Down syndrome

Genomics

1998

592

0

Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility

Biological psychiatry

1998

563

0

Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci

The Journal of clinical endocrinology and metabolism

1998

633

0

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group

Human mutation

1998

520

0

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset

American journal of human genetics

1998

551

0

Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis

Genomics

1998

604

0

Molecular genetics of coagulation factor VIII gene and haemophilia A

Haemophilia

1998

566

0

Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7)

Genes chromosomes & cancer

1998

518

0

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

Nature genetics

1998

577

0

Gene structure and chromosomal localization of the human P2X7 receptor

Receptors & channels

1998

635

0

Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon

Genomics

1998

622

0

Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins

Molecular endocrinology

1998

621

0

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

American journal of human genetics

1998

576

0

Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3

Genomics

1998

588

0

Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1

Human genetics

1998

547

0

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence

Human genetics

1998

564

0

Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2

Human genetics

1997

582

0

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15

Human genetics

1997

540

0

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

American journal of human genetics

1997

605

0

Positional cloning of the APECED gene

Nature genetics

1997

694

1

Fortuitous detection of uniparental isodisomy of chromosome 6

Journal of medical genetics

1997

595

0

Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome

Genomics

1997

631

1

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4

American journal of human genetics

1997

524

0

The SH3D1A gene maps to human chromosome 21q22.1-->q22.2

Cytogenetics and cell genetics

1997

437

0

Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region

Genome research

1997

583

0

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

Human genetics

1997

607

0

Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1

Proceedings of the National Academy of Sciences of the United States of America

1997

581

0

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients

American journal of medical genetics

1997

657

0

Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3

Genomics

1997

633

0

A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years

Acta neuropathologica

1997

673

0

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

Human mutation

1997

619

0

Mutation in GLI3 in postaxial polydactyly type A

Nature genetics

1997

616

0

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Nature

1997

660

0

Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3

Biochemical and biophysical research communications

1997

522

0

Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

American journal of medical genetics

1997

726

0

Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3

Genomics

1997

621

0

Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis

American journal of human genetics

1997

590

0

Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee

Genomics

1997

640

0

The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103

American journal of human genetics

1997

596

0

The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region

American journal of medical genetics

1997

620

0

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

Human genetics

1997

580

0

What is expanded in progressive myoclonus epilepsy?

Nature genetics

1997

568

0

Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3

Genomics

1997

652

0

Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene

American journal of human genetics

1997

530

0

The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS

Nucleic acids research

1996

718

0

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3

Human molecular genetics

1996

625

0

Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis

American journal of human genetics

1996

486

0

Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22

Annales de génétique

1996

596

0

Mapping by sequence homology

European journal of human genetics

1996

522

0

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

Human genetics

1996

690

0

The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3

Genomics

1996

631

0

Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus

Cold Spring Harbor Symposia on Quantitative Biology

1996

474

0

Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping

Genome research

1996

587

0

A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22)

American journal of medical genetics

1996

719

0

The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene

Cytogenetics and cell genetics

1996

598

0

Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2

Genomics

1996

513

0

The human lanosterol synthase gene maps to chromosome 21q22.3

Human genetics

1996

588

0

The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes

Cold Spring Harbor Symposia on Quantitative Biology

1996

431

0

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36

American journal of medical genetics

1996

692

0

Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3

American journal of human genetics

1996

493

0

Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3

Human genetics

1996

590

0

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation

Journal of medical genetics

1996

586

0

Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter

Genomics

1996

578

0

Early-onset dementias: clinical, neuropathological and genetic characteristics

Acta neuropathologica

1996

663

0

Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21

Genomics

1996

544

0

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

Human mutation

1996

648

0

Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3

Genomics

1996

563

0

Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia

American journal of medical genetics

1995

657

0

Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A

Nature genetics

1995

773

0

Molecular etiology of factor VIII deficiency in hemophilia A

Human mutation

1995

645

0

Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe

Analytical biochemistry

1995

687

0

A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination

American journal of human genetics

1995

540

0

Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2

Genomics

1995

542

0

Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain

Somatic cell and molecular genetics

1995

607

0

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

Blood

1995

576

3

The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells

Human molecular genetics

1995

676

0

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

Human molecular genetics

1995

614

0

Schizophrenia and chromosomal deletions within 22q11.2

American journal of human genetics

1995

544

0

Molecular etiology of factor VIII deficiency in hemophilia A

Advances in experimental medicine and biology

1995

562

0

Characterization and chromosomal localization of a human P2X receptor from the urinary bladder

Receptors & channels

1995

589

0

Molecular genetics of coagulation factor VIII gene and hemophilia A

Thrombosis and haemostasis

1995

765

0

Single-minded and Down syndrome?

Nature genetics

1995

572

1

Schizophrenia susceptibility and chromosome 6p24-22

Nature genetics

1995

537

0

Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1

Genomics

1995

571

0

Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3

American journal of medical genetics

1995

618

0

Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21

Genomics

1995

504

0

Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes

Human mutation

1994

616

0

Discussion on mutation nomenclature

Human mutation

1994

605

0

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

American journal of human genetics

1994

566

0

Genome linkage scanning: systematic or intelligent?

Nature genetics

1994

557

0

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives

The journal of nervous and mental disease

1994

645

0

Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

Human molecular genetics

1994

597

0

Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically

American journal of medical genetics

1994

577

0

Dinucleotide repeat polymorphism within ERCC5 gene

Human molecular genetics

1994

654

0

Normal phenotype with paternal uniparental isodisomy for chromosome 21

American journal of human genetics

1993

626

1

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Nature genetics

1993

642

0

Human chromosome 21: genome mapping and exploration, circa 1993

Trends in genetics

1993

631

0

Report of the Fourth International Workshop on Human Chromosome 21

Genomics

1993

567

0

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