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	50	23
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency	Human Molecular Genetics	2020	416	1
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy	American Journal of Human Genetics	2020	271	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	433	0
SCN8A heterozygous variants are associated with anoxic-epileptic seizures	American Journal of Medical Genetics. A	2020	278	1
Chromatin three-dimensional interactions mediate genetic effects on gene expression	Science	2019	361	2
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder	Neuropediatrics	2018	591	2
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay	Genetics in Medicine	2018	582	329
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3	Human molecular genetics	2018	78	90
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing	Cell Reports	2018	461	479
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	461	543
The effect of genetic variation on promoter usage and enhancer activity	Nature Communications	2017	375	211
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	679	2
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells	Nature Communications	2017	504	619
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	631	220
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy	American Journal of Medical Genetics. A	2017	549	2
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets	Bioinformatics	2017	437	141
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome	eLife	2017	444	250
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	503	337
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	American journal of human genetics	2016	655	437
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome	American journal of human genetics	2016	633	209
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation	Cerebellum	2016	691	4
HGVS Recommendations for the Description of Sequence Variants: 2016 Update	Human mutation	2016	586	0
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing	Scientific reports	2016	581	252
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree	Human genomics	2016	557	321
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells	Cell	2016	556	719
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication	Genome research	2016	573	398
The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery	Cell	2016	494	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	702	291
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics	2016	747	327
Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma	Human genome meeting 2016	2016	7	12
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma	Nature genetics	2016	883	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	612	0
The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype	BMC genomics	2015	710	351
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells	PloS one	2015	688	345
Galanin pathogenic mutations in temporal lobe epilepsy	Human molecular genetics	2015	556	0
CATCHing putative causative variants in consanguineous families	BMC bioinformatics	2015	625	221
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	617	283
Biased allelic expression in human primary fibroblast single cells	American journal of human genetics	2015	610	0
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis	Sexual development	2015	754	0
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders	Genome research	2015	553	2
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins	PloS one	2015	665	466
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing	PLOS genetics	2015	728	314
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation	Nature	2015	563	0
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21	Stem cells	2015	734	587
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration	Stem cells	2015	653	0
Familial epilepsy in Algeria: Clinical features and inheritance profiles	Seizure	2015	563	0
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome	Science	2015	542	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	554	0
Next generation diagnostics on cardiomyopathy	Molecular cytogenetics	2014	679	210
MOOCs: la fin des facultés de médecine conventionnelles ?	Revue médicale suisse	2014	532	8
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders	Clinical genetics	2014	749	0
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Human mutation	2014	701	4
Domains of genome-wide gene expression dysregulation in Down's syndrome	Nature	2014	708	2
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster	Genome research	2014	669	0
Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans	American journal of human genetics	2014	668	1
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes	PloS one	2014	770	502
Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants	PloS one	2014	652	361
Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in down syndrome	Genetics	2014	806	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	728	327
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report	BMC medical genetics	2014	568	221
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly	Human mutation	2014	684	4
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy	Neurology	2014	712	567
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	Genomics data	2014	563	1
Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nature communications	2014	773	267
Analysis of the Born in Bradford birth cohort	Lancet	2014	761	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	753	553
Guidelines for investigating causality of sequence variants in human disease	Nature	2014	694	420
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations	Nature communications	2014	649	231
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia	Bone	2014	618	0
Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes	Molecular biology and evolution	2013	717	0
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome	Genome research	2013	749	645
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	642	0
Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome	Genome research	2013	712	538
Passive and active DNA methylation and the interplay with genetic variation in gene regulation	eLife	2013	778	541
Pathogenic variants in non-protein-coding sequences	Clinical genetics	2013	583	0
Transcriptome and genome sequencing uncovers functional variation in humans	Nature	2013	724	3
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity	European journal of human genetics	2013	651	436
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm	Retrovirology	2013	619	340
Assessment of transcript reconstruction methods for RNA-seq	Nature methods	2013	684	368
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	582	0
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications	Stem cell research	2013	665	0
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study	Clinical genetics	2013	680	2
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome	Blood	2013	680	0
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories	Nature biotechnology	2013	637	1
Genetic and epigenetic regulation of human lincRNA gene expression	American journal of human genetics	2013	679	0
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas	Cancer research	2012	719	1
Genomic determinants in the phenotypic variability of Down syndrome	Progress in brain research	2012	686	0
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB	Human mutation	2012	596	0
BLUEPRINT to decode the epigenetic signature written in blood	Nature biotechnology	2012	542	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	646	0
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion	Journal of medical genetics	2012	778	0
An integrated encyclopedia of DNA elements in the human genome	Nature	2012	704	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	684	0
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients	Molecular neurobiology	2012	516	0
Landscape of transcription in human cells	Nature	2012	893	850
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled	PloS one	2012	761	506
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma	Nature genetics	2012	685	3
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes	Human molecular genetics	2012	627	1
High-throughput sequencing and rare genetic diseases	Molecular syndromology	2012	631	308
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	692	0
Evidence for transcript networks composed of chimeric RNAs in human cells	PloS one	2012	1,155	571
From sequence to functional understanding: the difficult road ahead	Genome medicine	2011	621	169
Systems medicine and integrated care to combat chronic noncommunicable diseases	Genome medicine	2011	667	630
Mouse models for Down syndrome-associated developmental cognitive disabilities	Developmental neuroscience	2011	564	0
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report	Genetics in medicine	2011	663	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	553	0
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts	Genome research	2011	735	363
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia	European journal of medical genetics	2011	730	0
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice	Journal of medical genetics	2011	676	0
A user's guide to the encyclopedia of DNA elements (ENCODE)	PLoS biology	2011	725	1,037
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus	Nature	2011	811	2
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma	PloS one	2011	638	544
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	623	0
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences	PloS one	2011	678	449
DNA methylation profiles of human active and inactive X chromosomes	Genome research	2011	673	0
Regulation of fibrinogen production by microRNAs	Blood	2010	634	0
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism	Nature	2010	663	394
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats	Human molecular genetics	2010	576	0
A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes	PloS one	2010	762	306
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features	Clinical genetics	2010	686	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	582	0
Down syndrome: from understanding the neurobiology to therapy	The Journal of neuroscience	2010	713	2
A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus	PloS one	2010	863	482
Mendelian disorders and multifactorial traits: the big divide or one for all?	Nature reviews. Genetics	2010	635	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	551	0
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15	Genome research	2010	559	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	782	9
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes	GenomeBiology.com	2010	671	491
Genetic structure of Europeans: a view from the North-East	PloS one	2009	781	2,467
Identifying protein-coding genes in genomic sequences	GenomeBiology.com	2009	678	414
Common regulatory variation impacts gene expression in a cell type-dependent manner	Science	2009	687	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	719	582
Transcriptional and post-transcriptional profile of human chromosome 21	Genome research	2009	717	0
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation	Human mutation	2009	671	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	696	0
Common genetic variation and the control of HIV-1 in humans	PLOS genetics	2009	1,264	372
The genome sequence of taurine cattle: a window to ruminant biology and evolution	Science	2009	739	5
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres	Journal of neuroscience research	2009	668	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	615	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	531	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	745	0
Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing	PloS one	2009	878	363
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls	Human mutation	2009	478	0
Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening	Cancer research	2008	618	0
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients	American journal of medical genetics. Part A	2008	682	0
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness	Frontiers in bioscience	2008	934	746
CNVs and genetic medicine (excitement and consequences of a rediscovery)	Cytogenetic and genome research	2008	577	0
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3	Mammalian genome	2008	716	425
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes	The New England journal of medicine	2008	720	2,180
Functional genetic variation of human miRNAs and phenotypic consequences	Mammalian genome	2008	598	328
Mapping of small RNAs in the human ENCODE regions	American journal of human genetics	2008	624	0
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells	GenomeBiology.com	2008	665	440
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations	Human mutation	2008	740	0
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy	Human mutation	2008	758	0
Efficient targeted transcript discovery via array-based normalization of RACE libraries	Nature methods	2008	700	523
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore	Molecular pharmacology	2008	687	0
Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development	American journal of human genetics	2008	689	528
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome	American journal of human genetics	2008	647	0
Welcome to PathoGenetics	PathoGenetics	2008	663	199
Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin	Nucleic acids research	2008	584	454
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	575	0
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1	PLoS biology	2008	741	452
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events	American journal of medical genetics. Part A	2008	734	4
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions	Genome research	2007	644	0
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution	Genome research	2007	554	0
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation	American journal of medical genetics. Part A	2007	644	0
Gene duplication: a drive for phenotypic diversity and cause of human disease	Annual review of genomics and human genetics	2007	642	0
Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome	Human brain mapping	2007	548	0
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother	Brain & development	2007	583	0
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease	Human mutation	2007	668	0
A whole-genome association study of major determinants for host control of HIV-1	Science	2007	774	967
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome	Genome research	2007	645	1
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance	American journal of human genetics	2007	717	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	587	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	664	0
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21	Genome research	2007	648	0
Structured RNAs in the ENCODE selected regions of the human genome	Genome research	2007	589	0
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability	Nature reviews. Genetics	2007	623	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	718	0
Early history of mammals is elucidated with the ENCODE multiple species sequencing data	PLOS genetics	2007	722	729
Promoter polymorphisms and allelic imbalance in ABCB1 expression	Pharmacogenetics and genomics	2007	646	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	561	1
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1	American journal of human genetics	2007	593	0
Mendelian disorders deserve more attention	Nature reviews. Genetics	2006	588	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	716	476
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	695	0
The challenge of Down syndrome	Trends in molecular medicine	2006	579	2
Conserved noncoding sequences are selectively constrained and not mutation cold spots	Nature genetics	2006	701	0
Tandem chimerism as a means to increase protein complexity in the human genome	Genome research	2006	623	0
GENCODE: producing a reference annotation for ENCODE	GenomeBiology.com	2006	710	493
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects	American journal of respiratory and critical care medicine	2006	694	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	652	0
EGASP: the human ENCODE Genome Annotation Assessment Project	GenomeBiology.com	2006	832	489
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	717	0
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions	Journal of medical genetics	2006	701	0
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes	American journal of human genetics	2006	691	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	612	0
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes	Human molecular genetics	2005	609	0
Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter	EMBO reports	2005	602	0
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis	Proceedings of the National Academy of Sciences of the United States of America	2005	679	0
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes	Human molecular genetics	2005	662	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	584	0
LRP5 gene polymorphisms and idiopathic osteoporosis in men	Bone	2005	600	0
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro	Human mutation	2005	677	0
The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome	Human molecular genetics	2005	638	0
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations	PLOS genetics	2005	642	518
Conserved non-genic sequences - an unexpected feature of mammalian genomes	Nature reviews. Genetics	2005	572	0
Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling	Molecular genetics and genomics	2005	606	446
L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique	Revue médicale suisse	2005	577	1
Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor	Clinical pharmacology and therapeutics	2005	637	0
Gene finding in the chicken genome	BMC bioinformatics	2005	671	311
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	592	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	586	0
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome	Nature neuroscience	2005	551	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	656	0
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein	Human genetics	2005	709	368
The human sugar-phosphate/phosphate exchanger family SLC37	Pflügers Archiv	2004	610	0
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q	Annals of neurology	2004	640	0
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin	Human mutation	2004	684	0
Association of the connexin36 gene with juvenile myoclonic epilepsy	Journal of medical genetics	2004	615	0
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome	Genome research	2004	579	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	582	0
Chromosome 21 and down syndrome: from genomics to pathophysiology	Nature reviews. Genetics	2004	799	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	607	0
Detection of aneuploidies by paralogous sequence quantification	Journal of medical genetics	2004	536	0
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development	Genomics	2004	592	0
No association between DUP25 and anxiety disorders	American journal of medical genetics. Part B, Neuropsychiatric genetics	2004	647	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	618	0
Genetic variability of mu-opioid receptor in an obstetric population	Anesthesiology	2004	485	0
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome	Blood	2003	669	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	682	0
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling	Biochimica et biophysica acta	2003	655	0
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12	Gene	2003	655	0
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder	American journal of human genetics	2003	664	4
The TPTE gene family: cellular expression, subcellular localization and alternative splicing	Gene	2003	718	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	592	0
Mutation nomenclature	Current protocols in human genetics	2003	631	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	566	1
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)	Science	2003	648	0
Trapping and sequence analysis of 1138 putative exons from human chromosome 18	Molecular psychiatry	2003	563	0
Chromosome 21 and Down syndrome: the post-sequence era	Cold Spring Harbor Symposia on Quantitative Biology	2003	578	0
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome	Human genetics	2003	562	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	632	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	753	0
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia	American journal of human genetics	2003	573	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	666	0
Numerous potentially functional but non-genic conserved sequences on human chromosome 21	Nature	2002	612	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	672	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	663	0
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology	The International journal of developmental biology	2002	557	0
Nineteen additional unpredicted transcripts from human chromosome 21	Genomics	2002	742	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	548	0
Language skills in children with velocardiofacial syndrome (deletion 22q11.2)	The Journal of pediatrics	2002	610	0
Initial sequencing and comparative analysis of the mouse genome	Nature	2002	809	6
Human chromosome 21 gene expression atlas in the mouse	Nature	2002	627	0
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro	Human molecular genetics	2002	656	0
Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors	Human genetics	2002	592	1
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects	Genomics	2002	578	2
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients	Journal of molecular medicine	2002	680	0
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness	Human mutation	2001	659	1
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP	Nature cell biology	2001	643	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	605	378
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness	Journal of medical genetics	2001	568	0
Prise en charge multidisciplinaire du cancer colorectal héréditaire	Swiss surgery	2001	871	0
APECED mutations in the autoimmune regulator (AIRE) gene	Human mutation	2001	544	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	621	0
A cSNP map and database for human chromosome 21	Genome research	2001	525	0
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map	Genomics	2001	636	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	695	0
BACking up the promises	Nature genetics	2001	544	0
Frequency of replication/transcription errors in (A)/(T) runs of human genes	Human genetics	2001	560	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	654	0
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T	Blood	2001	601	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	638	0
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness	Nature genetics	2001	647	0
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome	European journal of pediatrics	2001	600	0
Nomenclature for the description of human sequence variations	Human genetics	2001	975	0
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia	Genomics	2001	645	1
Chromosome 21: from sequence to applications	Current opinion in genetics & development	2001	572	0
Isolation and initial characterization of the mouse Dnmt3l gene	Cytogenetics and cell genetics	2001	512	0
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study	Archives of general psychiatry	2001	562	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	627	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	632	289
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)	Cytogenetics and cell genetics	2000	680	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	610	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	555	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	666	0
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes	European child & adolescent psychiatry	2000	656	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	631	0
Mutations in GJB6 cause hidrotic ectodermal dysplasia	Nature genetics	2000	542	0
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion	Human mutation	2000	505	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	619	0
The DNA sequence of human chromosome 21	Nature	2000	1,372	3
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia	Blood	2000	592	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	538	1
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein	The Journal of biological chemistry	2000	642	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	576	0
Disease-causing mutations in the human genome	European journal of pediatrics	2000	574	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	609	0
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes	Molecular psychiatry	2000	654	0
OMIM passes the 1,000-disease-gene mark	Nature genetics	2000	614	0
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning	Genomics	2000	643	0
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity	European journal of human genetics	2000	648	0
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3	Advances in oto-rhino-laryngology	2000	499	0
Patterns of meiotic recombination on the long arm of human chromosome 21	Genome research	2000	610	0
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla	Biochemical and biophysical research communications	1999	647	0
Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia	The Journal of clinical investigation	1999	531	0
Mutation analyses of North American APS-1 patients	Human mutation	1999	655	0
Linearization and purification of BAC DNA for the development of transgenic mice	Transgenic research	1999	529	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	566	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	663	0
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes	Genome research	1999	676	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	628	0
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14	American journal of medical genetics	1999	468	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	614	0
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency	Blood	1999	582	0
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)	Human genetics	1999	711	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	613	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	573	0
Isolation and characterization of the mouse Aire gene	Biochemical and biophysical research communications	1999	616	0
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly	Human genetics	1998	666	0
Mind the GAP, Rho, Rab and GDI	Nature genetics	1998	553	0
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients	Human genetics	1998	613	0
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome	Genomics	1998	582	0
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2)	Genomics	1998	602	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	569	0
APECED: a monogenic autoimmune disease providing new clues to self-tolerance	Immunology today	1998	542	0
10 years of Genomics, chromosome 21, and Down syndrome	Genomics	1998	600	0
Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility	Biological psychiatry	1998	571	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	638	0
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group	Human mutation	1998	524	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	555	0
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis	Genomics	1998	608	0
Molecular genetics of coagulation factor VIII gene and haemophilia A	Haemophilia	1998	570	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	523	0
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21	Nature genetics	1998	582	0
Gene structure and chromosomal localization of the human P2X7 receptor	Receptors & channels	1998	641	0
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon	Genomics	1998	626	0
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins	Molecular endocrinology	1998	624	0
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity	American journal of human genetics	1998	581	0
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3	Genomics	1998	591	0
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1	Human genetics	1998	550	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	569	0
Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2	Human genetics	1997	585	0
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15	Human genetics	1997	545	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	611	0
Positional cloning of the APECED gene	Nature genetics	1997	700	1
Fortuitous detection of uniparental isodisomy of chromosome 6	Journal of medical genetics	1997	600	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	641	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	528	0
The SH3D1A gene maps to human chromosome 21q22.1-->q22.2	Cytogenetics and cell genetics	1997	441	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	590	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	610	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	586	0
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients	American journal of medical genetics	1997	661	0
Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3	Genomics	1997	638	0
A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years	Acta neuropathologica	1997	678	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	625	0
Mutation in GLI3 in postaxial polydactyly type A	Nature genetics	1997	621	0
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	Nature	1997	664	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	525	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	733	0
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3	Genomics	1997	623	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	592	0
Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee	Genomics	1997	648	0
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103	American journal of human genetics	1997	599	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	628	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	587	0
What is expanded in progressive myoclonus epilepsy?	Nature genetics	1997	573	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	659	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	536	0
The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS	Nucleic acids research	1996	721	0
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3	Human molecular genetics	1996	630	0
Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis	American journal of human genetics	1996	490	0
Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22	Annales de génétique	1996	600	0
Mapping by sequence homology	European journal of human genetics	1996	528	0
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome	Human genetics	1996	693	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	637	0
Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus	Cold Spring Harbor Symposia on Quantitative Biology	1996	477	0
Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping	Genome research	1996	591	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	724	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	602	0
Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2	Genomics	1996	515	0
The human lanosterol synthase gene maps to chromosome 21q22.3	Human genetics	1996	593	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	436	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	694	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	497	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	594	0
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation	Journal of medical genetics	1996	593	0
Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter	Genomics	1996	581	0
Early-onset dementias: clinical, neuropathological and genetic characteristics	Acta neuropathologica	1996	666	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	548	0
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene	Human mutation	1996	651	0
Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3	Genomics	1996	566	0
Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia	American journal of medical genetics	1995	660	0
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A	Nature genetics	1995	777	0
Molecular etiology of factor VIII deficiency in hemophilia A	Human mutation	1995	648	0
Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe	Analytical biochemistry	1995	693	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	543	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	545	0
Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain	Somatic cell and molecular genetics	1995	611	0
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study	Blood	1995	581	3
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells	Human molecular genetics	1995	679	0
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome	Human molecular genetics	1995	617	0
Schizophrenia and chromosomal deletions within 22q11.2	American journal of human genetics	1995	547	0
Molecular etiology of factor VIII deficiency in hemophilia A	Advances in experimental medicine and biology	1995	566	0
Characterization and chromosomal localization of a human P2X receptor from the urinary bladder	Receptors & channels	1995	593	0
Molecular genetics of coagulation factor VIII gene and hemophilia A	Thrombosis and haemostasis	1995	767	0
Single-minded and Down syndrome?	Nature genetics	1995	576	1
Schizophrenia susceptibility and chromosome 6p24-22	Nature genetics	1995	539	0
Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1	Genomics	1995	574	0
Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3	American journal of medical genetics	1995	622	0
Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21	Genomics	1995	510	0
Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes	Human mutation	1994	619	0
Discussion on mutation nomenclature	Human mutation	1994	607	0
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis	American journal of human genetics	1994	570	0
Genome linkage scanning: systematic or intelligent?	Nature genetics	1994	561	0
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives	The journal of nervous and mental disease	1994	648	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	600	0
Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically	American journal of medical genetics	1994	581	0
Dinucleotide repeat polymorphism within ERCC5 gene	Human molecular genetics	1994	660	0
Normal phenotype with paternal uniparental isodisomy for chromosome 21	American journal of human genetics	1993	629	1
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A	Nature genetics	1993	647	0
Human chromosome 21: genome mapping and exploration, circa 1993	Trends in genetics	1993	639	0
Report of the Fourth International Workshop on Human Chromosome 21	Genomics	1993	578	0

Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia

Genome research

2025

50

23

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

Human Molecular Genetics

2020

416

1

De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy

American Journal of Human Genetics

2020

271

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

433

0

SCN8A heterozygous variants are associated with anoxic-epileptic seizures

American Journal of Medical Genetics. A

2020

278

1

Chromatin three-dimensional interactions mediate genetic effects on gene expression

Science

2019

361

2

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder

Neuropediatrics

2018

591

2

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Genetics in Medicine

2018

582

329

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Human molecular genetics

2018

78

90

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing

Cell Reports

2018

461

479

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

461

543

The effect of genetic variation on promoter usage and enhancer activity

Nature Communications

2017

375

211

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

679

2

Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells

Nature Communications

2017

504

619

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

631

220

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

American Journal of Medical Genetics. A

2017

549

2

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

Bioinformatics

2017

437

141

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

eLife

2017

444

250

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

503

337

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

American journal of human genetics

2016

655

437

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

American journal of human genetics

2016

633

209

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

Cerebellum

2016

691

4

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human mutation

2016

586

0

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

Scientific reports

2016

581

252

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

Human genomics

2016

557

321

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Cell

2016

556

719

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

Genome research

2016

573

398

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

Cell

2016

494

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

702

291

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

Human genomics

2016

747

327

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

Human genome meeting 2016

2016

7

12

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

Nature genetics

2016

883

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

612

0

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

BMC genomics

2015

710

351

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

PloS one

2015

688

345

Galanin pathogenic mutations in temporal lobe epilepsy

Human molecular genetics

2015

556

0

CATCHing putative causative variants in consanguineous families

BMC bioinformatics

2015

625

221

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

617

283

Biased allelic expression in human primary fibroblast single cells

American journal of human genetics

2015

610

0

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

Sexual development

2015

754

0

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

Genome research

2015

553

2

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

PloS one

2015

665

466

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

PLOS genetics

2015

728

314

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

Nature

2015

563

0

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

Stem cells

2015

734

587

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

Stem cells

2015

653

0

Familial epilepsy in Algeria: Clinical features and inheritance profiles

Seizure

2015

563

0

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

Science

2015

542

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

554

0

Next generation diagnostics on cardiomyopathy

Molecular cytogenetics

2014

679

210

MOOCs: la fin des facultés de médecine conventionnelles ?

Revue médicale suisse

2014

532

8

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders

Clinical genetics

2014

749

0

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

Human mutation

2014

701

4

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

Nature

2014

708

2

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

Genome research

2014

669

0

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

American journal of human genetics

2014

668

1

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

PloS one

2014

770

502

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

PloS one

2014

652

361

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

Genetics

2014

806

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

728

327

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

BMC medical genetics

2014

568

221

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

Human mutation

2014

684

4

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

Neurology

2014

712

567

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

Genomics data

2014

563

1

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

Nature communications

2014

773

267

Analysis of the Born in Bradford birth cohort

Lancet

2014

761

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

753

553

Guidelines for investigating causality of sequence variants in human disease

Nature

2014

694

420

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

Nature communications

2014

649

231

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

Bone

2014

618

0

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

Molecular biology and evolution

2013

717

0

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

Genome research

2013

749

645

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

642

0

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

Genome research

2013

712

538

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

eLife

2013

778

541

Pathogenic variants in non-protein-coding sequences

Clinical genetics

2013

583

0

Transcriptome and genome sequencing uncovers functional variation in humans

Nature

2013

724

3

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

European journal of human genetics

2013

651

436

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

Retrovirology

2013

619

340

Assessment of transcript reconstruction methods for RNA-seq

Nature methods

2013

684

368

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

582

0

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

Stem cell research

2013

665

0

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

Clinical genetics

2013

680

2

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

Blood

2013

680

0

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

Nature biotechnology

2013

637

1

Genetic and epigenetic regulation of human lincRNA gene expression

American journal of human genetics

2013

679

0

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

Cancer research

2012

719

1

Genomic determinants in the phenotypic variability of Down syndrome

Progress in brain research

2012

686

0

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

Human mutation

2012

596

0

BLUEPRINT to decode the epigenetic signature written in blood

Nature biotechnology

2012

542

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

646

0

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

Journal of medical genetics

2012

778

0

An integrated encyclopedia of DNA elements in the human genome

Nature

2012

704

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

684

0

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

Molecular neurobiology

2012

516

0

Landscape of transcription in human cells

Nature

2012

893

850

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

PloS one

2012

761

506

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma

Nature genetics

2012

685

3

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

Human molecular genetics

2012

627

1

High-throughput sequencing and rare genetic diseases

Molecular syndromology

2012

631

308

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

692

0

Evidence for transcript networks composed of chimeric RNAs in human cells

PloS one

2012

1,155

571

From sequence to functional understanding: the difficult road ahead

Genome medicine

2011

621

169

Systems medicine and integrated care to combat chronic noncommunicable diseases

Genome medicine

2011

667

630

Mouse models for Down syndrome-associated developmental cognitive disabilities

Developmental neuroscience

2011

564

0

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

Genetics in medicine

2011

663

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

553

0

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

Genome research

2011

735

363

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

European journal of medical genetics

2011

730

0

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

Journal of medical genetics

2011

676

0

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

PLoS biology

2011

725

1,037

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

Nature

2011

811

2

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

PloS one

2011

638

544

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

623

0

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

PloS one

2011

678

449

DNA methylation profiles of human active and inactive X chromosomes

Genome research

2011

673

0

Regulation of fibrinogen production by microRNAs

Blood

2010

634

0

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

Nature

2010

663

394

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

Human molecular genetics

2010

576

0

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

PloS one

2010

762

306

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

Clinical genetics

2010

686

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

582

0

Down syndrome: from understanding the neurobiology to therapy

The Journal of neuroscience

2010

713

2

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

PloS one

2010

863

482

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

Nature reviews. Genetics

2010

635

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

551

0

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

Genome research

2010

559

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

782

9

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

GenomeBiology.com

2010

671

491

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

PloS one

2009

781

2,467

Identifying protein-coding genes in genomic sequences

GenomeBiology.com

2009

678

414

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

Science

2009

687

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

719

582

Transcriptional and post-transcriptional profile of human chromosome 21

Genome research

2009

717

0

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

Human mutation

2009

671

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

696

0

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

PLOS genetics

2009

1,264

372

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

Science

2009

739

5

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

Journal of neuroscience research

2009

668

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

615

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

531

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

745

0

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

PloS one

2009

878

363

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

Human mutation

2009

478

0

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

Cancer research

2008

618

0

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

American journal of medical genetics. Part A

2008

682

0

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

Frontiers in bioscience

2008

934

746

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

Cytogenetic and genome research

2008

577

0

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

Mammalian genome

2008

716

425

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

The New England journal of medicine

2008

720

2,180

Functional genetic variation of human miRNAs and phenotypic consequences

Mammalian genome

2008

598

328

Mapping of small RNAs in the human ENCODE regions

American journal of human genetics

2008

624

0

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

GenomeBiology.com

2008

665

440

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

Human mutation

2008

740

0

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

Human mutation

2008

758

0

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

Nature methods

2008

700

523

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

Molecular pharmacology

2008

687

0

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

American journal of human genetics

2008

689

528

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

American journal of human genetics

2008

647

0

Welcome to PathoGenetics

PathoGenetics

2008

663

199

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

Nucleic acids research

2008

584

454

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

575

0

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

PLoS biology

2008

741

452

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

American journal of medical genetics. Part A

2008

734

4

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

Genome research

2007

644

0

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

Genome research

2007

554

0

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

American journal of medical genetics. Part A

2007

644

0

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

Annual review of genomics and human genetics

2007

642

0

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

Human brain mapping

2007

548

0

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

Brain & development

2007

583

0

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

Human mutation

2007

668

0

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

Science

2007

774

967

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

Genome research

2007

645

1

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

American journal of human genetics

2007

717

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

587

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

664

0

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

Genome research

2007

648

0

Structured RNAs in the ENCODE selected regions of the human genome

Genome research

2007

589

0

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

Nature reviews. Genetics

2007

623

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

718

0

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

PLOS genetics

2007

722

729

Promoter polymorphisms and allelic imbalance in ABCB1 expression

Pharmacogenetics and genomics

2007

646

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

561

1

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

American journal of human genetics

2007

593

0

Mendelian disorders deserve more attention

Nature reviews. Genetics

2006

588

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

716

476

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

695

0

The challenge of Down syndrome

Trends in molecular medicine

2006

579

2

Conserved noncoding sequences are selectively constrained and not mutation cold spots

Nature genetics

2006

701

0

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

Genome research

2006

623

0

GENCODE: producing a reference annotation for ENCODE

GenomeBiology.com

2006

710

493

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

American journal of respiratory and critical care medicine

2006

694

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

652

0

EGASP: the human ENCODE Genome Annotation Assessment Project

GenomeBiology.com

2006

832

489

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

717

0

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

Journal of medical genetics

2006

701

0

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

American journal of human genetics

2006

691

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

612

0

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

Human molecular genetics

2005

609

0

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

EMBO reports

2005

602

0

Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis

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

2005

679

0

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

Human molecular genetics

2005

662

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

584

0

LRP5 gene polymorphisms and idiopathic osteoporosis in men

Bone

2005

600

0

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

Human mutation

2005

677

0

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

Human molecular genetics

2005

638

0

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

PLOS genetics

2005

642

518

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

Nature reviews. Genetics

2005

572

0

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

Molecular genetics and genomics

2005

606

446

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

Revue médicale suisse

2005

577

1

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

Clinical pharmacology and therapeutics

2005

637

0

Gene finding in the chicken genome

BMC bioinformatics

2005

671

311

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

592

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

586

0

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

Nature neuroscience

2005

551

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

656

0

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

Human genetics

2005

709

368

The human sugar-phosphate/phosphate exchanger family SLC37

Pflügers Archiv

2004

610

0

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

Annals of neurology

2004

640

0

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

Human mutation

2004

684

0

Association of the connexin36 gene with juvenile myoclonic epilepsy

Journal of medical genetics

2004

615

0

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

Genome research

2004

579

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

582

0

Chromosome 21 and down syndrome: from genomics to pathophysiology

Nature reviews. Genetics

2004

799

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

607

0

Detection of aneuploidies by paralogous sequence quantification

Journal of medical genetics

2004

536

0

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

Genomics

2004

592

0

No association between DUP25 and anxiety disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics

2004

647

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

618

0

Genetic variability of mu-opioid receptor in an obstetric population

Anesthesiology

2004

485

0

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

Blood

2003

669

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

682

0

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

Biochimica et biophysica acta

2003

655

0

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

Gene

2003

655

0

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

American journal of human genetics

2003

664

4

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

Gene

2003

718

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

592

0

Mutation nomenclature

Current protocols in human genetics

2003

631

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

566

1

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

Science

2003

648

0

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

Molecular psychiatry

2003

563

0

Chromosome 21 and Down syndrome: the post-sequence era

Cold Spring Harbor Symposia on Quantitative Biology

2003

578

0

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome

Human genetics

2003

562

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

632

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

753

0

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

American journal of human genetics

2003

573

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

666

0

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

Nature

2002

612

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

672

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

663

0

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

The International journal of developmental biology

2002

557

0

Nineteen additional unpredicted transcripts from human chromosome 21

Genomics

2002

742

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

548

0

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

The Journal of pediatrics

2002

610

0

Initial sequencing and comparative analysis of the mouse genome

Nature

2002

809

6

Human chromosome 21 gene expression atlas in the mouse

Nature

2002

627

0

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

Human molecular genetics

2002

656

0

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

Human genetics

2002

592

1

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

Genomics

2002

578

2

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

Journal of molecular medicine

2002

680

0

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

Human mutation

2001

659

1

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

Nature cell biology

2001

643

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

605

378

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

Journal of medical genetics

2001

568

0

Prise en charge multidisciplinaire du cancer colorectal héréditaire

Swiss surgery

2001

871

0

APECED mutations in the autoimmune regulator (AIRE) gene

Human mutation

2001

544

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

621

0

A cSNP map and database for human chromosome 21

Genome research

2001

525

0

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

Genomics

2001

636

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

695

0

BACking up the promises

Nature genetics

2001

544

0

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

Human genetics

2001

560

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

654

0

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

Blood

2001

601

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

638

0

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

Nature genetics

2001

647

0

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

European journal of pediatrics

2001

600

0

Nomenclature for the description of human sequence variations

Human genetics

2001

975

0

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

Genomics

2001

645

1

Chromosome 21: from sequence to applications

Current opinion in genetics & development

2001

572

0

Isolation and initial characterization of the mouse Dnmt3l gene

Cytogenetics and cell genetics

2001

512

0

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

Archives of general psychiatry

2001

562

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

627

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

632

289

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

Cytogenetics and cell genetics

2000

680

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

610

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

555

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

666

0

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

European child & adolescent psychiatry

2000

656

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

631

0

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Nature genetics

2000

542

0

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

Human mutation

2000

505

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

619

0

The DNA sequence of human chromosome 21

Nature

2000

1,372

3

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

Blood

2000

592

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

538

1

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

The Journal of biological chemistry

2000

642

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

576

0

Disease-causing mutations in the human genome

European journal of pediatrics

2000

574

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

609

0

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

Molecular psychiatry

2000

654

0

OMIM passes the 1,000-disease-gene mark

Nature genetics

2000

614

0

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

Genomics

2000

643

0

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

European journal of human genetics

2000

648

0

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

Advances in oto-rhino-laryngology

2000

499

0

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

Genome research

2000

610

0

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

Biochemical and biophysical research communications

1999

647

0

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

The Journal of clinical investigation

1999

531

0

Mutation analyses of North American APS-1 patients

Human mutation

1999

655

0

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

Transgenic research

1999

529

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

566

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

663

0

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

Genome research

1999

676

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

628

0

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

American journal of medical genetics

1999

468

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

614

0

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

Blood

1999

582

0

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

Human genetics

1999

711

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

613

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

573

0

Isolation and characterization of the mouse Aire gene

Biochemical and biophysical research communications

1999

616

0

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

Human genetics

1998

666

0

Mind the GAP, Rho, Rab and GDI

Nature genetics

1998

553

0

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

Human genetics

1998

613

0

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

Genomics

1998

582

0

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

Genomics

1998

602

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

569

0

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

Immunology today

1998

542

0

10 years of Genomics, chromosome 21, and Down syndrome

Genomics

1998

600

0

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

Biological psychiatry

1998

571

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

638

0

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

Human mutation

1998

524

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

555

0

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

Genomics

1998

608

0

Molecular genetics of coagulation factor VIII gene and haemophilia A

Haemophilia

1998

570

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

523

0

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

Nature genetics

1998

582

0

Gene structure and chromosomal localization of the human P2X7 receptor

Receptors & channels

1998

641

0

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

Genomics

1998

626

0

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

Molecular endocrinology

1998

624

0

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

American journal of human genetics

1998

581

0

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

Genomics

1998

591

0

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

Human genetics

1998

550

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

569

0

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

Human genetics

1997

585

0

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

Human genetics

1997

545

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

611

0

Positional cloning of the APECED gene

Nature genetics

1997

700

1

Fortuitous detection of uniparental isodisomy of chromosome 6

Journal of medical genetics

1997

600

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

641

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

528

0

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

Cytogenetics and cell genetics

1997

441

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

590

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

610

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

586

0

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

American journal of medical genetics

1997

661

0

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

Genomics

1997

638

0

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

Acta neuropathologica

1997

678

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

625

0

Mutation in GLI3 in postaxial polydactyly type A

Nature genetics

1997

621

0

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Nature

1997

664

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

525

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

733

0

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

Genomics

1997

623

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

592

0

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

Genomics

1997

648

0

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

American journal of human genetics

1997

599

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

628

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

587

0

What is expanded in progressive myoclonus epilepsy?

Nature genetics

1997

573

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

659

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

536

0

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

Nucleic acids research

1996

721

0

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

Human molecular genetics

1996

630

0

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

American journal of human genetics

1996

490

0

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

Annales de génétique

1996

600

0

Mapping by sequence homology

European journal of human genetics

1996

528

0

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

Human genetics

1996

693

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

637

0

Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus

Cold Spring Harbor Symposia on Quantitative Biology

1996

477

0

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

Genome research

1996

591

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

724

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

602

0

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

Genomics

1996

515

0

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

Human genetics

1996

593

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

436

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

694

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

497

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

594

0

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

Journal of medical genetics

1996

593

0

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

Genomics

1996

581

0

Early-onset dementias: clinical, neuropathological and genetic characteristics

Acta neuropathologica

1996

666

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

548

0

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

Human mutation

1996

651

0

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

Genomics

1996

566

0

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

American journal of medical genetics

1995

660

0

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

Nature genetics

1995

777

0

Molecular etiology of factor VIII deficiency in hemophilia A

Human mutation

1995

648

0

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

Analytical biochemistry

1995

693

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

543

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

545

0

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

Somatic cell and molecular genetics

1995

611

0

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

Blood

1995

581

3

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

Human molecular genetics

1995

679

0

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

Human molecular genetics

1995

617

0

Schizophrenia and chromosomal deletions within 22q11.2

American journal of human genetics

1995

547

0

Molecular etiology of factor VIII deficiency in hemophilia A

Advances in experimental medicine and biology

1995

566

0

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

Receptors & channels

1995

593

0

Molecular genetics of coagulation factor VIII gene and hemophilia A

Thrombosis and haemostasis

1995

767

0

Single-minded and Down syndrome?

Nature genetics

1995

576

1

Schizophrenia susceptibility and chromosome 6p24-22

Nature genetics

1995

539

0

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

Genomics

1995

574

0

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

American journal of medical genetics

1995

622

0

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

Genomics

1995

510

0

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

Human mutation

1994

619

0

Discussion on mutation nomenclature

Human mutation

1994

607

0

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

American journal of human genetics

1994

570

0

Genome linkage scanning: systematic or intelligent?

Nature genetics

1994

561

0

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

The journal of nervous and mental disease

1994

648

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

600

0

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

American journal of medical genetics

1994

581

0

Dinucleotide repeat polymorphism within ERCC5 gene

Human molecular genetics

1994

660

0

Normal phenotype with paternal uniparental isodisomy for chromosome 21

American journal of human genetics

1993

629

1

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

Nature genetics

1993

647

0

Human chromosome 21: genome mapping and exploration, circa 1993

Trends in genetics

1993

639

0

Report of the Fourth International Workshop on Human Chromosome 21

Genomics

1993

578

0

Archive ouverte UNIGE

account_balance Affiliation entities

Affiliation entities