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	53	31
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency	Human Molecular Genetics	2020	418	1
De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy	American Journal of Human Genetics	2020	273	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	436	0
SCN8A heterozygous variants are associated with anoxic-epileptic seizures	American Journal of Medical Genetics. A	2020	280	1
Chromatin three-dimensional interactions mediate genetic effects on gene expression	Science	2019	363	2
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder	Neuropediatrics	2018	593	2
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay	Genetics in Medicine	2018	585	345
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3	Human molecular genetics	2018	80	104
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing	Cell Reports	2018	463	557
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	464	555
The effect of genetic variation on promoter usage and enhancer activity	Nature Communications	2017	377	222
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	681	2
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells	Nature Communications	2017	506	665
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	633	226
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy	American Journal of Medical Genetics. A	2017	551	2
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets	Bioinformatics	2017	439	148
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome	eLife	2017	446	257
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	505	345
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia	American journal of human genetics	2016	657	462
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome	American journal of human genetics	2016	635	215
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation	Cerebellum	2016	693	4
HGVS Recommendations for the Description of Sequence Variants: 2016 Update	Human mutation	2016	588	0
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing	Scientific reports	2016	584	279
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree	Human genomics	2016	559	341
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells	Cell	2016	558	761
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication	Genome research	2016	575	437
The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery	Cell	2016	496	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	704	302
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders	Human genomics	2016	749	353
Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma	Human genome meeting 2016	2016	9	24
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma	Nature genetics	2016	886	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	614	0
The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype	BMC genomics	2015	712	358
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells	PloS one	2015	690	357
Galanin pathogenic mutations in temporal lobe epilepsy	Human molecular genetics	2015	558	0
CATCHing putative causative variants in consanguineous families	BMC bioinformatics	2015	627	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	619	293
Biased allelic expression in human primary fibroblast single cells	American journal of human genetics	2015	612	0
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis	Sexual development	2015	756	0
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders	Genome research	2015	555	2
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins	PloS one	2015	667	472
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing	PLOS genetics	2015	730	327
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation	Nature	2015	565	0
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21	Stem cells	2015	736	607
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration	Stem cells	2015	655	0
Familial epilepsy in Algeria: Clinical features and inheritance profiles	Seizure	2015	565	0
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome	Science	2015	544	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	556	0
Next generation diagnostics on cardiomyopathy	Molecular cytogenetics	2014	681	214
MOOCs: la fin des facultés de médecine conventionnelles ?	Revue médicale suisse	2014	534	8
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders	Clinical genetics	2014	751	0
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families	Human mutation	2014	704	4
Domains of genome-wide gene expression dysregulation in Down's syndrome	Nature	2014	710	2
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster	Genome research	2014	671	0
Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans	American journal of human genetics	2014	670	1
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes	PloS one	2014	772	507
Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants	PloS one	2014	654	383
Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in down syndrome	Genetics	2014	808	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	730	337
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report	BMC medical genetics	2014	570	223
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly	Human mutation	2014	686	4
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy	Neurology	2014	714	623
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21	Genomics data	2014	565	1
Extrachromosomal driver mutations in glioblastoma and low-grade glioma	Nature communications	2014	775	274
Analysis of the Born in Bradford birth cohort	Lancet	2014	763	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	755	585
Guidelines for investigating causality of sequence variants in human disease	Nature	2014	696	458
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations	Nature communications	2014	651	237
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia	Bone	2014	620	0
Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes	Molecular biology and evolution	2013	719	0
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome	Genome research	2013	751	688
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	644	0
Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome	Genome research	2013	714	569
Passive and active DNA methylation and the interplay with genetic variation in gene regulation	eLife	2013	780	545
Pathogenic variants in non-protein-coding sequences	Clinical genetics	2013	585	0
Transcriptome and genome sequencing uncovers functional variation in humans	Nature	2013	726	3
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity	European journal of human genetics	2013	653	466
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm	Retrovirology	2013	621	372
Assessment of transcript reconstruction methods for RNA-seq	Nature methods	2013	686	369
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	590	0
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications	Stem cell research	2013	667	0
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study	Clinical genetics	2013	682	2
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome	Blood	2013	682	0
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories	Nature biotechnology	2013	639	1
Genetic and epigenetic regulation of human lincRNA gene expression	American journal of human genetics	2013	681	0
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas	Cancer research	2012	721	1
Genomic determinants in the phenotypic variability of Down syndrome	Progress in brain research	2012	688	0
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB	Human mutation	2012	598	0
BLUEPRINT to decode the epigenetic signature written in blood	Nature biotechnology	2012	544	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	648	0
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion	Journal of medical genetics	2012	780	0
An integrated encyclopedia of DNA elements in the human genome	Nature	2012	706	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	686	0
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients	Molecular neurobiology	2012	518	0
Landscape of transcription in human cells	Nature	2012	895	875
Extensive natural variation for cellular hydrogen peroxide release is genetically controlled	PloS one	2012	763	521
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma	Nature genetics	2012	687	3
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes	Human molecular genetics	2012	629	1
High-throughput sequencing and rare genetic diseases	Molecular syndromology	2012	633	320
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	694	0
Evidence for transcript networks composed of chimeric RNAs in human cells	PloS one	2012	1,157	572
From sequence to functional understanding: the difficult road ahead	Genome medicine	2011	623	175
Systems medicine and integrated care to combat chronic noncommunicable diseases	Genome medicine	2011	669	633
Mouse models for Down syndrome-associated developmental cognitive disabilities	Developmental neuroscience	2011	566	0
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report	Genetics in medicine	2011	665	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	555	0
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts	Genome research	2011	737	365
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia	European journal of medical genetics	2011	732	0
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice	Journal of medical genetics	2011	678	0
A user's guide to the encyclopedia of DNA elements (ENCODE)	PLoS biology	2011	727	1,118
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus	Nature	2011	813	2
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma	PloS one	2011	640	561
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	625	0
Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences	PloS one	2011	680	457
DNA methylation profiles of human active and inactive X chromosomes	Genome research	2011	675	0
Regulation of fibrinogen production by microRNAs	Blood	2010	636	0
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism	Nature	2010	665	397
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats	Human molecular genetics	2010	578	0
A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes	PloS one	2010	764	309
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features	Clinical genetics	2010	688	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	584	0
Down syndrome: from understanding the neurobiology to therapy	The Journal of neuroscience	2010	715	2
A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus	PloS one	2010	865	490
Mendelian disorders and multifactorial traits: the big divide or one for all?	Nature reviews. Genetics	2010	637	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	553	0
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15	Genome research	2010	561	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	784	9
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes	GenomeBiology.com	2010	673	517
Genetic structure of Europeans: a view from the North-East	PloS one	2009	783	3,237
Identifying protein-coding genes in genomic sequences	GenomeBiology.com	2009	681	423
Common regulatory variation impacts gene expression in a cell type-dependent manner	Science	2009	689	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	721	593
Transcriptional and post-transcriptional profile of human chromosome 21	Genome research	2009	719	0
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation	Human mutation	2009	673	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	698	0
Common genetic variation and the control of HIV-1 in humans	PLOS genetics	2009	1,266	384
The genome sequence of taurine cattle: a window to ruminant biology and evolution	Science	2009	741	5
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres	Journal of neuroscience research	2009	670	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	617	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	533	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	747	0
Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing	PloS one	2009	880	366
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls	Human mutation	2009	480	0
Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening	Cancer research	2008	620	0
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients	American journal of medical genetics. Part A	2008	684	0
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness	Frontiers in bioscience	2008	941	778
CNVs and genetic medicine (excitement and consequences of a rediscovery)	Cytogenetic and genome research	2008	579	0
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3	Mammalian genome	2008	718	443
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes	The New England journal of medicine	2008	722	2,228
Functional genetic variation of human miRNAs and phenotypic consequences	Mammalian genome	2008	600	358
Mapping of small RNAs in the human ENCODE regions	American journal of human genetics	2008	626	0
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells	GenomeBiology.com	2008	667	441
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations	Human mutation	2008	742	0
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy	Human mutation	2008	760	0
Efficient targeted transcript discovery via array-based normalization of RACE libraries	Nature methods	2008	702	530
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore	Molecular pharmacology	2008	689	0
Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development	American journal of human genetics	2008	691	528
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome	American journal of human genetics	2008	649	0
Welcome to PathoGenetics	PathoGenetics	2008	665	200
Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin	Nucleic acids research	2008	586	462
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	577	0
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1	PLoS biology	2008	743	466
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events	American journal of medical genetics. Part A	2008	736	4
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions	Genome research	2007	646	0
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution	Genome research	2007	556	0
Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation	American journal of medical genetics. Part A	2007	647	0
Gene duplication: a drive for phenotypic diversity and cause of human disease	Annual review of genomics and human genetics	2007	644	0
Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome	Human brain mapping	2007	550	0
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother	Brain & development	2007	585	0
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease	Human mutation	2007	671	0
A whole-genome association study of major determinants for host control of HIV-1	Science	2007	776	984
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome	Genome research	2007	647	1
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance	American journal of human genetics	2007	719	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	589	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	666	0
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21	Genome research	2007	650	0
Structured RNAs in the ENCODE selected regions of the human genome	Genome research	2007	591	0
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability	Nature reviews. Genetics	2007	625	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	720	0
Early history of mammals is elucidated with the ENCODE multiple species sequencing data	PLOS genetics	2007	724	754
Promoter polymorphisms and allelic imbalance in ABCB1 expression	Pharmacogenetics and genomics	2007	648	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	563	1
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1	American journal of human genetics	2007	595	0
Mendelian disorders deserve more attention	Nature reviews. Genetics	2006	590	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	718	500
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	697	0
The challenge of Down syndrome	Trends in molecular medicine	2006	581	2
Conserved noncoding sequences are selectively constrained and not mutation cold spots	Nature genetics	2006	703	0
Tandem chimerism as a means to increase protein complexity in the human genome	Genome research	2006	625	0
GENCODE: producing a reference annotation for ENCODE	GenomeBiology.com	2006	712	601
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects	American journal of respiratory and critical care medicine	2006	696	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	654	0
EGASP: the human ENCODE Genome Annotation Assessment Project	GenomeBiology.com	2006	834	568
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	719	0
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions	Journal of medical genetics	2006	703	0
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes	American journal of human genetics	2006	693	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	614	0
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes	Human molecular genetics	2005	611	0
Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter	EMBO reports	2005	604	0
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis	Proceedings of the National Academy of Sciences of the United States of America	2005	681	0
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes	Human molecular genetics	2005	664	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	586	0
LRP5 gene polymorphisms and idiopathic osteoporosis in men	Bone	2005	602	0
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro	Human mutation	2005	680	0
The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome	Human molecular genetics	2005	640	0
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations	PLOS genetics	2005	644	524
Conserved non-genic sequences - an unexpected feature of mammalian genomes	Nature reviews. Genetics	2005	574	0
Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling	Molecular genetics and genomics	2005	610	479
L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique	Revue médicale suisse	2005	579	1
Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor	Clinical pharmacology and therapeutics	2005	639	0
Gene finding in the chicken genome	BMC bioinformatics	2005	673	313
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	594	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	588	0
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome	Nature neuroscience	2005	553	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	658	0
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein	Human genetics	2005	711	376
The human sugar-phosphate/phosphate exchanger family SLC37	Pflügers Archiv	2004	612	0
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q	Annals of neurology	2004	642	0
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin	Human mutation	2004	686	0
Association of the connexin36 gene with juvenile myoclonic epilepsy	Journal of medical genetics	2004	617	0
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome	Genome research	2004	581	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	584	0
Chromosome 21 and down syndrome: from genomics to pathophysiology	Nature reviews. Genetics	2004	802	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	609	0
Detection of aneuploidies by paralogous sequence quantification	Journal of medical genetics	2004	538	0
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development	Genomics	2004	594	0
No association between DUP25 and anxiety disorders	American journal of medical genetics. Part B, Neuropsychiatric genetics	2004	649	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	620	0
Genetic variability of mu-opioid receptor in an obstetric population	Anesthesiology	2004	487	0
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome	Blood	2003	671	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	684	0
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling	Biochimica et biophysica acta	2003	657	0
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12	Gene	2003	657	0
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder	American journal of human genetics	2003	666	4
The TPTE gene family: cellular expression, subcellular localization and alternative splicing	Gene	2003	720	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	594	0
Mutation nomenclature	Current protocols in human genetics	2003	633	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	568	1
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs)	Science	2003	650	0
Trapping and sequence analysis of 1138 putative exons from human chromosome 18	Molecular psychiatry	2003	565	0
Chromosome 21 and Down syndrome: the post-sequence era	Cold Spring Harbor Symposia on Quantitative Biology	2003	580	0
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome	Human genetics	2003	564	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	634	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	755	0
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia	American journal of human genetics	2003	575	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	668	0
Numerous potentially functional but non-genic conserved sequences on human chromosome 21	Nature	2002	614	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	674	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	665	0
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology	The International journal of developmental biology	2002	559	0
Nineteen additional unpredicted transcripts from human chromosome 21	Genomics	2002	744	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	550	0
Language skills in children with velocardiofacial syndrome (deletion 22q11.2)	The Journal of pediatrics	2002	612	0
Initial sequencing and comparative analysis of the mouse genome	Nature	2002	811	6
Human chromosome 21 gene expression atlas in the mouse	Nature	2002	629	0
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro	Human molecular genetics	2002	658	0
Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors	Human genetics	2002	594	1
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects	Genomics	2002	580	2
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients	Journal of molecular medicine	2002	682	0
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness	Human mutation	2001	661	1
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP	Nature cell biology	2001	645	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	607	384
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness	Journal of medical genetics	2001	570	0
Prise en charge multidisciplinaire du cancer colorectal héréditaire	Swiss surgery	2001	873	0
APECED mutations in the autoimmune regulator (AIRE) gene	Human mutation	2001	546	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	623	0
A cSNP map and database for human chromosome 21	Genome research	2001	527	0
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map	Genomics	2001	638	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	697	0
BACking up the promises	Nature genetics	2001	546	0
Frequency of replication/transcription errors in (A)/(T) runs of human genes	Human genetics	2001	563	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	656	0
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T	Blood	2001	603	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	640	0
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness	Nature genetics	2001	649	0
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome	European journal of pediatrics	2001	602	0
Nomenclature for the description of human sequence variations	Human genetics	2001	977	0
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia	Genomics	2001	647	1
Chromosome 21: from sequence to applications	Current opinion in genetics & development	2001	574	0
Isolation and initial characterization of the mouse Dnmt3l gene	Cytogenetics and cell genetics	2001	516	0
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study	Archives of general psychiatry	2001	564	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	629	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	634	306
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD)	Cytogenetics and cell genetics	2000	682	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	612	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	557	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	668	0
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes	European child & adolescent psychiatry	2000	658	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	633	0
Mutations in GJB6 cause hidrotic ectodermal dysplasia	Nature genetics	2000	544	0
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion	Human mutation	2000	507	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	621	0
The DNA sequence of human chromosome 21	Nature	2000	1,374	3
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia	Blood	2000	594	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	540	1
The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein	The Journal of biological chemistry	2000	644	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	578	0
Disease-causing mutations in the human genome	European journal of pediatrics	2000	576	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	611	0
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes	Molecular psychiatry	2000	656	0
OMIM passes the 1,000-disease-gene mark	Nature genetics	2000	616	0
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning	Genomics	2000	645	0
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity	European journal of human genetics	2000	650	0
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3	Advances in oto-rhino-laryngology	2000	501	0
Patterns of meiotic recombination on the long arm of human chromosome 21	Genome research	2000	612	0
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla	Biochemical and biophysical research communications	1999	649	0
Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia	The Journal of clinical investigation	1999	533	0
Mutation analyses of North American APS-1 patients	Human mutation	1999	657	0
Linearization and purification of BAC DNA for the development of transgenic mice	Transgenic research	1999	531	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	568	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	665	0
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes	Genome research	1999	678	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	630	0
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14	American journal of medical genetics	1999	470	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	616	0
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency	Blood	1999	584	0
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)	Human genetics	1999	713	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	616	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	575	0
Isolation and characterization of the mouse Aire gene	Biochemical and biophysical research communications	1999	618	0
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly	Human genetics	1998	668	0
Mind the GAP, Rho, Rab and GDI	Nature genetics	1998	555	0
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients	Human genetics	1998	615	0
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome	Genomics	1998	584	0
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2)	Genomics	1998	604	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	571	0
APECED: a monogenic autoimmune disease providing new clues to self-tolerance	Immunology today	1998	544	0
10 years of Genomics, chromosome 21, and Down syndrome	Genomics	1998	602	0
Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility	Biological psychiatry	1998	573	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	640	0
Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group	Human mutation	1998	526	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	557	0
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis	Genomics	1998	610	0
Molecular genetics of coagulation factor VIII gene and haemophilia A	Haemophilia	1998	572	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	525	0
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21	Nature genetics	1998	584	0
Gene structure and chromosomal localization of the human P2X7 receptor	Receptors & channels	1998	643	0
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon	Genomics	1998	628	0
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins	Molecular endocrinology	1998	626	0
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity	American journal of human genetics	1998	583	0
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3	Genomics	1998	593	0
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1	Human genetics	1998	552	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	571	0
Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2	Human genetics	1997	587	0
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15	Human genetics	1997	547	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	613	0
Positional cloning of the APECED gene	Nature genetics	1997	702	1
Fortuitous detection of uniparental isodisomy of chromosome 6	Journal of medical genetics	1997	602	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	643	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	530	0
The SH3D1A gene maps to human chromosome 21q22.1-->q22.2	Cytogenetics and cell genetics	1997	443	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	592	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	612	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	588	0
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients	American journal of medical genetics	1997	663	0
Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3	Genomics	1997	640	0
A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years	Acta neuropathologica	1997	680	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	628	0
Mutation in GLI3 in postaxial polydactyly type A	Nature genetics	1997	623	0
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	Nature	1997	666	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	527	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	735	0
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3	Genomics	1997	625	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	594	0
Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee	Genomics	1997	650	0
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103	American journal of human genetics	1997	601	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	630	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	589	0
What is expanded in progressive myoclonus epilepsy?	Nature genetics	1997	584	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	661	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	538	0
The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS	Nucleic acids research	1996	723	0
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3	Human molecular genetics	1996	632	0
Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis	American journal of human genetics	1996	492	0
Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22	Annales de génétique	1996	602	0
Mapping by sequence homology	European journal of human genetics	1996	530	0
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome	Human genetics	1996	695	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	639	0
Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus	Cold Spring Harbor Symposia on Quantitative Biology	1996	479	0
Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping	Genome research	1996	593	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	726	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	604	0
Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2	Genomics	1996	517	0
The human lanosterol synthase gene maps to chromosome 21q22.3	Human genetics	1996	595	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	438	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	696	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	499	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	596	0
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation	Journal of medical genetics	1996	595	0
Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter	Genomics	1996	583	0
Early-onset dementias: clinical, neuropathological and genetic characteristics	Acta neuropathologica	1996	668	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	550	0
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene	Human mutation	1996	653	0
Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3	Genomics	1996	568	0
Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia	American journal of medical genetics	1995	662	0
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A	Nature genetics	1995	779	0
Molecular etiology of factor VIII deficiency in hemophilia A	Human mutation	1995	650	0
Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe	Analytical biochemistry	1995	695	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	545	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	547	0
Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain	Somatic cell and molecular genetics	1995	613	0
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study	Blood	1995	583	3
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells	Human molecular genetics	1995	681	0
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome	Human molecular genetics	1995	619	0
Schizophrenia and chromosomal deletions within 22q11.2	American journal of human genetics	1995	549	0
Molecular etiology of factor VIII deficiency in hemophilia A	Advances in experimental medicine and biology	1995	568	0
Characterization and chromosomal localization of a human P2X receptor from the urinary bladder	Receptors & channels	1995	595	0
Molecular genetics of coagulation factor VIII gene and hemophilia A	Thrombosis and haemostasis	1995	769	0
Single-minded and Down syndrome?	Nature genetics	1995	578	1
Schizophrenia susceptibility and chromosome 6p24-22	Nature genetics	1995	541	0
Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1	Genomics	1995	576	0
Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3	American journal of medical genetics	1995	624	0
Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21	Genomics	1995	512	0
Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes	Human mutation	1994	621	0
Discussion on mutation nomenclature	Human mutation	1994	609	0
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis	American journal of human genetics	1994	572	0
Genome linkage scanning: systematic or intelligent?	Nature genetics	1994	563	0
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives	The journal of nervous and mental disease	1994	650	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	602	0
Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically	American journal of medical genetics	1994	583	0
Dinucleotide repeat polymorphism within ERCC5 gene	Human molecular genetics	1994	662	0
Normal phenotype with paternal uniparental isodisomy for chromosome 21	American journal of human genetics	1993	631	1
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A	Nature genetics	1993	649	0
Human chromosome 21: genome mapping and exploration, circa 1993	Trends in genetics	1993	646	0
Report of the Fourth International Workshop on Human Chromosome 21	Genomics	1993	580	0