Stylianos Antonarakis

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#1151

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#1961

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#40

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Stylianos Antonarakis

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#2492

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#4241

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#1527

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Why Is Stylianos Antonarakis Influential?

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According to Wikipedia, Stylianos E. Antonarakis is a Greece-born human geneticist. Antonarakis is Professor of Genetic Medicine at the University of Geneva Medical School in Switzerland. From 2012 to 2017 he was the director of the iGE3 institute of Genetics and Genomics in Geneva, which he co-founded. He is the President of the Human Genome Organization , a member of the scientific council of the Swiss National Science Foundation, and chair of the Genetics panel of the European Research Council. Previously he was the President of the European Society of Human Genetics.

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Stylianos Antonarakis's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007) (5196)
Initial sequencing and comparative analysis of the mouse genome. (2002) (4609)
Landscape of transcription in human cells (2012) (4392)
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution (2004) (2417)
The ENCODE (ENCyclopedia Of DNA Elements) Project (2004) (2194)
An integrated encyclopedia of DNA elements in the human genome (2012) (2080)
Transcriptome and genome sequencing uncovers functional variation in humans (2013) (1758)
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion (2000) (1582)
A User's Guide to the Encyclopedia of DNA Elements (ENCODE) (2011) (1467)
The DNA sequence of human chromosome 21 (2000) (1377)
Positional cloning of the APECED gene (1997) (1344)
A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1 (2007) (1258)
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. (2003) (1195)
Guidelines for investigating causality of sequence variants in human disease (2014) (1160)
HGVS Recommendations for the Description of Sequence Variants: 2016 Update (2016) (1154)
Recommendations for a nomenclature system for human gene mutations (1998) (1000)
Nomenclature for the description of human sequence variations (2001) (937)
Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene. (1991) (878)
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A (1993) (826)
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man (1988) (816)
Common Regulatory Variation Impacts Gene Expression in a Cell Type–Dependent Manner (2009) (790)
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene (1992) (752)
Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster (1982) (735)
GENCODE: producing a reference annotation for ENCODE (2006) (650)
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo (2011) (634)
The complete sequence of a human genome (2021) (622)
Chromosome 21 and Down syndrome: from genomics to pathophysiology (2004) (618)
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A (1995) (611)
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. (2003) (592)
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. (2008) (578)
Genome-Wide Associations of Gene Expression Variation in Humans (2005) (552)
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 (1998) (550)
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells (2016) (475)
Common Genetic Variation and the Control of HIV-1 in Humans (2009) (448)
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability (2007) (442)
Genetic Structure of Europeans: A View from the North–East (2009) (437)
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. (1994) (436)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus (2011) (428)
Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. (1991) (414)
Passive and active DNA methylation and the interplay with genetic variation in gene regulation (2013) (394)
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma (2011) (386)
Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. (1994) (379)
Continuum of overlapping clones spanning the entire human chromosome 21q (1992) (376)
The DNA sequence of human chromosome 21. (2000) (370)
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP (2001) (368)
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein (1990) (365)
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. (2002) (365)
The International Human Epigenome Consortium: A Blueprint for Scientific Collaboration and Discovery (2016) (360)
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy (1997) (360)
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation (2015) (356)
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. (2007) (352)
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. (1982) (350)
EGASP: the human ENCODE Genome Annotation Assessment Project (2006) (344)
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. (1995) (343)
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia (2002) (333)
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma (2016) (327)
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome (2005) (321)
BLUEPRINT to decode the epigenetic signature written in blood (2012) (320)
Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. (1999) (304)
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. (2006) (304)
Nonuniform recombination within the human beta-globin gene cluster. (1984) (299)
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. (2000) (299)
Conserved non-genic sequences — an unexpected feature of mammalian genomes (2005) (295)
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. (2005) (286)
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report (2011) (271)
Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion (2002) (271)
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 (2009) (271)
Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group. (1991) (266)
The nature and mechanisms of human gene mutation (1995) (266)
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots (1986) (264)
Abnormal RNA processing due to the exon mutation of βE-globin gene (1982) (262)
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain (2018) (257)
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. (2004) (257)
Numerous potentially functional but non-genic conserved sequences on human chromosome 21 (2002) (256)
Mutations in GJB6 cause hidrotic ectodermal dysplasia (2000) (255)
DNA methylation profiles of human active and inactive X chromosomes. (2011) (250)
The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. (1990) (249)
Conserved noncoding sequences are selectively constrained and not mutation cold spots (2006) (245)
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients (1998) (244)
Mendelian disorders deserve more attention (2006) (240)
The Autoimmune Regulator Protein Has Transcriptional Transactivating Properties and Interacts with the Common Coactivator CREB-binding Protein* (2000) (239)
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). (1996) (235)
Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells (2012) (233)
Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice. (1991) (233)
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations (2008) (231)
Systems medicine and integrated care to combat chronic noncommunicable diseases (2011) (230)
Domains of genome-wide gene expression dysregulation in Down’s syndrome (2014) (230)
Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3. (1997) (227)
The implications of alternative splicing in the ENCODE protein complement (2007) (227)
Gene duplication: a drive for phenotypic diversity and cause of human disease. (2007) (226)
Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness (2001) (225)
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. (2007) (225)
Human chromosome 21 gene expression atlas in the mouse (2002) (224)
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. (2007) (221)
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. (1998) (220)
Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1. (1997) (218)
Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. (1984) (216)
Binding of PTEN to Specific PDZ Domains Contributes to PTEN Protein Stability and Phosphorylation by Microtubule-associated Serine/Threonine Kinases* (2005) (214)
Tandem chimerism as a means to increase protein complexity in the human genome. (2005) (210)
Molecular characterization of seven beta‐thalassemia mutations in Asian Indians. (1984) (210)
Evolutionary Discrimination of Mammalian Conserved Non-Genic Sequences (CNGs) (2003) (210)
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. (2007) (206)
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB‐deficient and in NOD mouse (2000) (202)
Structured RNAs in the ENCODE selected regions of the human genome. (2007) (201)
Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III. (2000) (200)
The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. (1992) (199)
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. (2007) (198)
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. (2004) (197)
Down syndrome and the complexity of genome dosage imbalance (2016) (193)
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. (2006) (192)
Multi-omic measurements of heterogeneity in HeLa cells across laboratories (2019) (192)
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. (1985) (186)
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. (1989) (182)
Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. (1993) (182)
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. (1987) (181)
Thalassemia due to a mutation in the cleavage‐polyadenylation signal of the human beta‐globin gene. (1985) (181)
Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing (2015) (180)
Additional support for schizophrenia linkage on chromosomes 6 and 8: a multicenter study. Schizophrenia Linkage Collaborative Group for Chromosomes 3, 6 and 8. (1996) (175)
Down syndrome (2020) (174)
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. (1999) (174)
beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site. (1984) (173)
Mutation in GLI3 in postaxial polydactyly type A (1997) (173)
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. (1998) (170)
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome (2008) (165)
beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. (1984) (165)
Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome (2013) (163)
Protocols to establish genotype-phenotype correlations in Down syndrome. (1991) (161)
Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2). (1998) (160)
Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2. (1994) (156)
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. (2002) (153)
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. (2013) (151)
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity (1999) (148)
Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. (1991) (146)
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). (1997) (145)
Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. (1997) (145)
APECED mutations in the autoimmune regulator (AIRE) gene (2001) (143)
10 years of Genomics, chromosome 21, and Down syndrome. (1998) (142)
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 (2013) (141)
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm (2013) (140)
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. (2008) (140)
Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age (1993) (138)
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication (2016) (136)
Polycythemia in transgenic mice expressing the human erythropoietin gene. (1989) (135)
Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. (1984) (134)
The challenge of Down syndrome. (2006) (133)
Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. (1991) (133)
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes (2003) (131)
Human erythropoietin gene expression in transgenic mice: multiple transcription initiation sites and cis-acting regulatory elements (1990) (129)
Characterization and chromosomal localization of a human P2X receptor from the urinary bladder. (1995) (127)
Down Syndrome: From Understanding the Neurobiology to Therapy (2010) (127)
Schizophrenia susceptibility and chromosome 6p24–22 (1995) (127)
Chromatin three-dimensional interactions mediate genetic effects on gene expression (2019) (124)
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. (1990) (122)
Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype1 (2009) (121)
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. (1983) (121)
Molecular etiology of factor VIII deficiency in hemophilia A (1995) (120)
LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. (2005) (120)
Mutation analyses of North American APS‐1 patients (1999) (119)
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. (2005) (118)
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 (2017) (117)
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy (2014) (115)
DNA polymorphism and molecular pathology of the human globin gene clusters (2004) (115)
Identification of Sequence Variants and Analysis of the Role of the Catechol-O-Methyl-Transferase Gene in Schizophrenia Susceptibility (1998) (113)
Early History of Mammals Is Elucidated with the ENCODE Multiple Species Sequencing Data (2007) (113)
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. (2000) (112)
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. (2000) (111)
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. (1988) (110)
Biased allelic expression in human primary fibroblast single cells. (2015) (110)
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. (1996) (109)
Gene structure and chromosomal localization of the human P2X7 receptor. (1998) (107)
Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. (1993) (105)
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene. (1997) (104)
Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee. (1997) (104)
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) (2015) (103)
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing. (2018) (103)
A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome (2009) (103)
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism (2010) (103)
Erratum: The DNA sequence of human chromosome 21: The chromosome 21 mapping and sequencing consortium (Nature (2000) 405 (311-319)) (2000) (102)
Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon. (1998) (102)
APECED: a monogenic autoimmune disease providing new clues to self-tolerance. (1998) (101)
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (2003) (101)
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. (2000) (100)
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. (1999) (99)
Diagnosis of genetic disorders at the DNA level. (1989) (99)
Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements (2007) (98)
Regulation of fibrinogen production by microRNAs. (2010) (96)
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes (2000) (95)
The DNA sequence of human chromosome 21 The chromosome 21 mapping and sequencing consortium (2000) (94)
Characterization of five partial deletions of the factor VIII gene. (1987) (94)
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. (2012) (94)
Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome. (1991) (93)
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening (2009) (92)
Molecular heterogeneity of inherited antithrombin III deficiency. (1983) (92)
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. (1982) (91)
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature (2013) (91)
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. (1982) (90)
Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia (1999) (88)
The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome. (2005) (88)
The TPTE gene family: cellular expression, subcellular localization and alternative splicing. (2003) (88)
Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis. (1994) (88)
Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin (2004) (87)
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy (2008) (86)
Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. (1990) (85)
On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups. (1986) (85)
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study (2013) (82)
Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II. (1985) (82)
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (1996) (82)
Functional genetic variation of human miRNAs and phenotypic consequences (2008) (82)
Association of the connexin36 gene with juvenile myoclonic epilepsy (2004) (81)
Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes (2014) (81)
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions (2005) (80)
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease (2007) (80)
Isolation and characterization of the mouse Aire gene. (1999) (80)
Abnormal RNA processing due to the exon mutation of beta E-globin gene. (1982) (80)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion (2011) (79)
Identifying protein-coding genes in genomic sequences (2009) (79)
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families (2014) (79)
Paternal nondisjunction in trisomy 21: excess of male patients. (1993) (78)
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. (2004) (78)
Single–minded and Down syndrome? (1995) (78)
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells (2017) (78)
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes (2001) (78)
Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. (1991) (78)
Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3. (1995) (77)
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. (1997) (77)
Language skills in children with velocardiofacial syndrome (deletion 22q11.2). (2002) (77)
A genetic linkage map of 27 markers on human chromosome 21. (1991) (77)
OMIM passes the 1,000-disease-gene mark (2000) (76)
Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). (1989) (76)
Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4). (1986) (76)
LRP5 gene polymorphisms and idiopathic osteoporosis in men. (2005) (74)
Carrier screening for recessive disorders (2019) (74)
In Vitro Whole-Genome Analysis Identifies a Susceptibility Locus for HIV-1 (2008) (74)
Mendelian disorders and multifactorial traits: the big divide or one for all? (2010) (74)
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. (2016) (74)
Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study. (2001) (73)
Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. (1992) (73)
Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome. (1997) (73)
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 (2014) (72)
Disease-causing mutations in the human genome (2000) (72)
Human chromosome 21: genome mapping and exploration, circa 1993. (1993) (72)
The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3. (2004) (72)
Polymorphism and molecular pathology of the human beta-globin gene. (1983) (71)
Phylogeny of human beta-globin haplotypes and its implications for recent human evolution. (1990) (71)
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients (2002) (71)
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non‐syndromic autosomal recessive deafness (2001) (71)
Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. (1990) (70)
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 (1998) (70)
Isolation and initial characterization of the mouse Dnmt3l gene (2001) (70)
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity (2012) (70)
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. (2013) (69)
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. (1998) (68)
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. (2011) (68)
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome (2013) (67)
Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation (2009) (67)
Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. (1997) (65)
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14. (1999) (65)
Genetic and epigenetic regulation of human lincRNA gene expression. (2013) (65)
Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome (2012) (64)
Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene. (1989) (64)
A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly (2014) (63)
The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions (1995) (63)
A genetic linkage map of 17 markers on human chromosome 21. (1989) (63)
Extrachromosomal driver mutations in glioblastoma and low grade glioma (2014) (63)
Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations. (1990) (62)
Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2. (1996) (62)
The molecular basis of hemophilia A in man. (1988) (62)
Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing* (2011) (62)
Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations (2005) (62)
Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements. (1989) (61)
Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome. (1992) (61)
Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome (2007) (61)
Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor β-Subunit Mutations outside the Ion Channel Pore (2008) (61)
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas. (2012) (60)
The mapping and sequencing of the human genome. (1990) (60)
Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. (1983) (60)
A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. (1987) (60)
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness (2001) (60)
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. (1997) (60)
Normal phenotype with paternal uniparental isodisomy for chromosome 21. (1993) (60)
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts (2018) (60)
A Teratocarcinoma-Like Human Embryonic Stem Cell (hESC) Line and Four hESC Lines Reveal Potentially Oncogenic Genomic Changes (2010) (59)
Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. (1998) (59)
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. (1995) (59)
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. (1990) (59)
Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. (1992) (59)
Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes. (2013) (59)
RFLP for the human lipoprotein lipase (LPL) gene: HindIII. (1987) (58)
Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. (2014) (58)
DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels (1991) (58)
A cSNP map and database for human chromosome 21. (2001) (57)
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)] (1986) (57)
Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping. (1996) (57)
Phenotypic variability in siblings with Farber disease. (1984) (57)
Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. (1999) (56)
Network-Guided Analysis of Genes with Altered Somatic Copy Number and Gene Expression Reveals Pathways Commonly Perturbed in Metastatic Melanoma (2011) (56)
Detection of aneuploidies by paralogous sequence quantification (2004) (56)
The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia (1983) (55)
Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass (2005) (55)
Alpha thalassemia changes erythrocyte heterogeneity in sickle cell disease. (1985) (55)
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 (2002) (54)
Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. (2001) (54)
Construction of human chromosome 21-specific yeast artificial chromosomes. (1989) (54)
Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration (2015) (53)
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. (2003) (53)
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. (1997) (53)
Peutz–Jeghers LKB1 mutants fail to activate GSK-3β, preventing it from inhibiting Wnt signaling (2005) (53)
Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. (1993) (53)
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. (2006) (53)
Mouse Models for Down Syndrome-Associated Developmental Cognitive Disabilities (2011) (53)
Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene. (1989) (53)
Schizophrenia and chromosomal deletions within 22q11.2. (1995) (53)
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. (1997) (53)
Patterns of meiotic recombination on the long arm of human chromosome 21. (2000) (53)
Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations (2014) (53)
Genetic diseases: diagnosis by restriction endonuclease analysis. (1982) (52)
Genetic Variability of &mgr;-Opioid Receptor in an Obstetric Population (2004) (51)
Mutation Nomenclature (2003) (51)
Nineteen additional unpredicted transcripts from human chromosome 21. (2002) (51)
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. (2016) (50)
Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): rapid detection of deletions and duplications of gene sequences. (1994) (50)
A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. (2002) (50)
A narcolepsy susceptibility locus maps to a 5Mb region of chromosome 21q (2004) (50)
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. (1999) (49)
Biallelic variants in KIF14 cause intellectual disability with microcephaly (2018) (49)
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains (2001) (49)
An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2–q11.2 in a large Turkish pedigree (2001) (48)
Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene. (1984) (48)
Hemophilia A due to mutations that create new N-glycosylation sites. (1992) (48)
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro (2005) (48)
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders (2015) (47)
Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (1998) (47)
Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes (1994) (47)
Vogel and Motulsky's Human Genetics (2010) (47)
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 (1999) (47)
Efficient targeted transcript discovery via array-based normalization of RACE libraries (2008) (47)
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression. (2017) (47)
MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother (2007) (47)
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping (2000) (47)
PRENATAL DIAGNOSIS OF HAEMOPHILIA A BY FACTOR VIII GENE ANALYSIS (1985) (47)
Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the beta-globin gene cluster. (1984) (46)
Abnormal processing of beta Knossos RNA (1984) (46)
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice (2011) (45)
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein (2005) (45)
Yeast artificial chromosome vectors for efficient clone manipulation and mapping. (1991) (44)
Eye gaze during face processing in children and adolescents with 22q11.2 deletion syndrome. (2010) (44)
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination. (1995) (43)
Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. (1996) (43)
Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres (2009) (43)
The human gene encoding insulin-like growth factor I is located on chromosome 12 (2004) (43)
800 ANAIXSIS OF DNA HAPLOTYPES SUGGESTS A GENETIC PREDISPOSITION TO TRISOMY 21 ASSOCIATED WITH DNA SEQUENCES ON CHROMOSOME 21 (1985) (43)
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins (2015) (43)
The effect of genetic variation on promoter usage and enhancer activity (2017) (43)
beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene. (1983) (43)
Molecular mechanism in the formation of a human ring chromosome 21. (1989) (43)
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein. (2000) (43)
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. (2010) (43)
Molecular genetics of hemophilia A in man (factor VIII deficiency). (1987) (42)
CARRIER TESTING STRATEGY IN HAEMOPHILIA A (1986) (42)
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. (2016) (42)
The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103. (1997) (42)
Localization of 102 exons to a 2.5 Mb region involved in Down syndrome. (1995) (42)
Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5 q , 6 q , 10 p , and 13 q : Schizophrenia Linkage Collaborative Group III * (41)
A transmission disequilibrium and linkage analysis of D22S278 marker alleles in 574 families: further support for a susceptibility locus for schizophrenia at 22q12 (1998) (41)
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T. (2001) (41)
Specific BACE1 genotypes provide additional risk for late‐onset alzheimer disease in APOE ε4 carriers (2003) (41)
Split‐hand/split‐foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region (2006) (40)
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly (1998) (39)
"Compensatory" uniparental disomy of chromosome 21 in two cases. (1994) (39)
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34. (2006) (38)
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats. (2010) (38)
From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (2001) (38)
Differential gene expression studies to explore the molecular pathophysiology of Down syndrome (2001) (38)
Mind the GAP, Rho, Rab and GDI (1998) (38)
Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer’s Disease (2018) (37)
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events (2008) (37)
Chromosomal localization and racial distribution of the polymorphic human dihydrofolate reductase pseudogene (DHFRP1). (1988) (37)
Gene age predicts the strength of purifying selection acting on gene expression variation in humans. (2014) (37)
Gene finding in the chicken genome (2005) (37)
Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia. (1999) (37)
Evidence supporting a single origin of the beta(C)-globin gene in blacks. (1985) (37)
Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease. (1989) (36)
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. (2008) (36)
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes (2000) (36)
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. (1997) (35)
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. (1999) (35)
Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients (2008) (35)
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD) (2000) (35)
Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. (1990) (35)
Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. (1992) (35)
Pathogenic variants in non‐protein‐coding sequences (2013) (34)
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. (2021) (34)
Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region (2015) (34)
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster (2014) (34)
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. (2007) (33)
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. (2000) (33)
Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal. (1991) (33)
Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels. (1992) (32)
Molecular Genetics of Coagulation Factor VIII Gene and Hemophilia A (1995) (32)
Chromosome 21: from sequence to applications. (2001) (32)
Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas. (1989) (32)
Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12. (2003) (32)
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. (1990) (32)
Arg16 homozygosity of the β2‐adrenergic receptor improves the outcome after β2‐agonist tocolysis for preterm labor (2005) (31)
Report of the Fourth International Workshop on Human Chromosome 21. (1993) (31)
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents (2010) (30)
The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS (1996) (30)
Mutations in ZMYND 10 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies , Cause Primary Ciliary Dyskinesia (2013) (30)
Tandem repeat sequence variation as causative Cis‐eQTLs for protein‐coding gene expression variation: The case of CSTB (2012) (30)
Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation (2013) (30)
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency (1997) (30)
The vanishing twin: An explanation for discordance between chorionic villus karyotype and fetal phenotype (1991) (29)
Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both. (1991) (29)
The human sugar-phosphate/phosphate exchanger family SLC37 (2004) (29)
MspI polymorphism in the 3' flanking region of the human factor VIII gene. (1987) (29)
The cellular basis for different fetal hemoglobin levels among sickle cell individuals with two, three, and four alpha-globin genes. (1987) (29)
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features (2010) (28)
FOXL2‐mutations in blepharophimosis‐ptosis—epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients (2002) (28)
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report (2014) (28)
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets (2017) (28)
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. (2000) (28)
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36. (1996) (28)
Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development. (2008) (28)
The role of biobanking in rare diseases: European consensus expert group report. (2009) (28)
c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p. (1984) (28)
A Systematic Enhancer Screen Using Lentivector Transgenesis Identifies Conserved and Non-Conserved Functional Elements at the Olig1 and Olig2 Locus (2010) (28)
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster (1999) (28)
Frequency of replication/transcription errors in (A)/(T) runs of human genes (2001) (28)
Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21. (1991) (28)
Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance. (1992) (27)
The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion (2003) (27)
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. (2018) (27)
Molecular etiology of factor VIII deficiency in hemophilia A. (1995) (27)
Vogel and Motulsky's Human Genetics: Problems and Approaches (1986) (27)
Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening. (2008) (27)
Promoter polymorphisms and allelic imbalance in ABCB1 expression (2007) (27)
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 (2006) (26)
Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28. (1993) (26)
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development. (2004) (25)
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) (1998) (25)
Abnormal processing of beta Knossos RNA. (1984) (25)
A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21 (2005) (25)
Mapping of small RNAs in the human ENCODE regions. (2008) (25)
Genome linkage scanning: systematic or intelligent? (1994) (25)
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non‐syndromic split‐hand/foot malformation (2006) (25)
NANOG priming before full reprogramming may generate germ cell tumours. (2011) (24)
Perturbations of Heart Development and Function in Cardiomyocytes from Human Embryonic Stem Cells with Trisomy 21 (2015) (24)
Specific Susceptibility to COVID-19 in Adults with Down Syndrome (2021) (24)
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. (1998) (24)
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. (2011) (24)
Fortuitous detection of uniparental isodisomy of chromosome 6. (1997) (24)
Gene Defects in β‐Thalassemia and Their Prenatal Diagnosis (1990) (24)
No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements. (1992) (24)
A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years (1997) (24)
Galanin pathogenic mutations in temporal lobe epilepsy. (2015) (23)
DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster (1988) (23)
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. (2019) (23)
Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3 (2008) (23)
Apolipoprotein B-100 Hopkins (arginine4019----tryptophan). A new apolipoprotein B-100 variant in a family with premature atherosclerosis and hyperapobetalipoproteinemia. (1989) (23)
A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes. (1999) (23)
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders (2016) (23)
The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype (2015) (23)
The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation (1986) (23)
Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2. (1995) (23)
Farber disease: pathologic diagnosis in sibs with phenotypic variability. (1987) (23)
Genomic determinants in the phenotypic variability of Down syndrome. (2012) (22)
What is expanded in progressive myoclonus epilepsy? (1997) (22)
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing (2016) (22)
Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells (2008) (22)
Reduced recombination rate on chromosomes 21 that have undergone nondisjunction. (1986) (22)
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3 (1997) (22)
BACking up the promises (2001) (22)
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. (2000) (22)
Methods for cloning large DNA segments as artificial chromosomes in S. cerevisiae. (1990) (22)
A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region (1997) (22)
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. (2007) (22)
Chromosome Conformation Capture Uncovers Potential Genome-Wide Interactions between Human Conserved Non-Coding Sequences (2011) (22)
Linearization and purification of BAC DNA for the development of transgenic mice (1999) (22)
Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene. (1988) (22)
The molecular genetics of hemophilia A and B in man. Factor VIII and factor IX deficiency. (1988) (21)
Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling. (2003) (21)
Early-onset dementias: clinical, neuropathological and genetic characteristics (1996) (21)
Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically. (1994) (21)
Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2 (1997) (21)
Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15 (1997) (21)
Cognition and Hippocampal Plasticity in the Mouse Is Altered by Monosomy of a Genomic Region Implicated in Down Syndrome (2014) (21)
CNVs and genetic medicine (excitement and consequences of a rediscovery) (2009) (21)
Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21 (2000) (20)
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay (2018) (20)
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection (2018) (20)
Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). (1992) (20)
Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34. (1988) (20)
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance (2019) (20)
Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor. (2005) (20)
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. (2019) (19)
Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2–q22.3 (1996) (19)
Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions. (1991) (19)
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. (2007) (19)
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3 (2018) (19)
Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions. (2015) (19)
D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21. (1992) (19)
Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia. (1994) (19)
Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32: (1996) (19)
Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13. (1997) (18)
Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter (2005) (18)
Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1 (1998) (18)
Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q. (2005) (18)
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes (2010) (18)
The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes. (1996) (18)
The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family (2001) (17)
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function (2018) (17)
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 (2017) (17)
Etiology and Pathogenesis of Down Syndrome (1997) (17)
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature (2018) (17)
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. (2020) (17)
β-Amyloid gene is not present in three copies in autopsy-validated Alzheimer's disease (1987) (17)
Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene. (1988) (17)
Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2. (1990) (16)
Molecular genetics of coagulation factor VIII gene and haemophilia A (1998) (16)
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. (1998) (16)
PvuII polymorphic site upstream to the human ApoCIII gene (1986) (16)
Molecular characterization of β‐globin gene mutations in patients with β‐thalassaemia intermedia in South China (1988) (16)
Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus. (1996) (16)
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology. (2002) (16)
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus (2012) (16)
Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome (2021) (16)
Localization of the human gene for mu-crystallin to chromosome 16p. (1992) (16)
No association between DUP25 and anxiety disorders (2004) (15)
Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin (2008) (15)
Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes (2005) (15)
BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients (2012) (15)
Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1→q22.2 (1999) (15)
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. (2020) (15)
YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome (1996) (15)
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q (1991) (15)
Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21. (1996) (14)
Germ-Line chromosomal localization of genes in chromosome 11p linkage: Parathyroid hormone, β-globin, c-Ha-ras-1, and insulin (1985) (14)
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree (2016) (14)
DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I. (1986) (14)
Translating molecular advances in Down syndrome and Fragile X syndrome into therapies (2017) (14)
Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects (2002) (14)
Third International Workshop on Human Chromosome 21. (1992) (14)
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. (2014) (14)
An alpha satellite DNA polymorphism specific for the centromeric region of chromosome 13. (1990) (14)
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene (1996) (14)
Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors (2002) (14)
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder (2017) (14)
Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain (1995) (14)
Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype. (2005) (14)
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. (2019) (13)
Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms. (2009) (13)
Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3. (1997) (13)
Detection of Genomic Variation by Selection of a 9 Mb DNA Region and High Throughput Sequencing (2009) (13)
Mutations in Human Genetic Disease (2012) (13)
Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3. (1996) (13)
The genomic landscape of human cellular circadian variation points to a novel role for the signalosome (2017) (13)
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation (2016) (13)
A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. (1989) (13)
Molecular heterogeneity of β-thalassemia in Mestizo Mexicans (1991) (12)
DNA polymorphism and molecular pathology of the human globin gene clusters (2004) (12)
Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene. (1988) (12)
Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and Reunion (1985) (12)
Dinucleotide repeat (GT)n markers on chromosome 21. (1992) (12)
Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. (1984) (12)
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. (2003) (12)
Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. (1990) (12)
CATCHing putative causative variants in consanguineous families (2015) (12)
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene‐associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht‐Lundborg (2003) (12)
A contiguous physical map of the pericentromeric region of chromosome 21q between D21Z1 and D21S13E. (1993) (12)
Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome (1990) (12)
Nonuniform Recombination within the Human P-Globin Gene Cluster (2006) (11)
The varieties of mutation. (1988) (11)
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother (2018) (11)
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. (1996) (11)
Discussion on mutation nomenclature (1994) (11)
Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours (2017) (11)
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis (2015) (11)
No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome. (1994) (11)
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. (2020) (11)
Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1. (1995) (10)
A novel zinc finger cDNA with a polymorphic pentanucleotide repeat (ATTTT)n maps on human chromosome 19p. (1993) (10)
Nonuniform recombination within the human beta-globin gene cluster: A reply to B. S. Weir and W. G. Hill. (1986) (10)
Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing (2017) (10)
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia. (2011) (10)
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 (2014) (10)
Comprar Vogel and Motulsky's Human Genetics · Problems and Approaches | Speicher, Michael | 9783540376538 | Springer (2010) (10)
High-Throughput Sequencing and Rare Genetic Diseases (2012) (10)
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene. (1996) (10)
Multiplex targeted high‐throughput sequencing for Mendelian cardiac disorders (2014) (10)
Human Genome Sequence and Variation (2010) (10)
A linkage map of three anonymous human DNA fragments and SOD‐1 on chromosome 21. (1985) (9)
SERPINI1 pathogenic variants: An emerging cause of childhood‐onset progressive myoclonic epilepsy (2017) (9)
Structure of the human CRFB4 gene: Comparison with its IFNAR neighbor (1995) (9)
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 (2001) (9)
Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation. (1989) (9)
Multipoint mapping studies of six loci on chromosome 11. (1987) (9)
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy (2020) (9)
Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene. (1994) (9)
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2020) (9)
DNA polymorphisms in the 3' untranslated region of genes on human chromosome 21. (1993) (9)
Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1) (1999) (9)
Intra- and inter-chromosomal chromatin interactions mediate genetic effects on regulatory networks (2017) (9)
Apolipoprotein A1 Baltimore (Arg10→Leu), a new ApoA1 variant (1990) (8)
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. (2004) (8)
Genomic, Proteomic and Phenotypic Heterogeneity in HeLa Cells across Laboratories: Implications for Reproducibility of Research Results (2018) (8)
Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter. (1996) (8)
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells (2015) (8)
Corrigendum: The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS (Nucleic Acids Research (1996) 24 (100-102)) (1996) (8)
Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21 (1994) (8)
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients (2017) (8)
Genomic Imprinting and Uniparental Disomy in Medicine (2001) (8)
The human lanosterol synthase gene maps to chromosome 21q22.3 (1996) (8)
An Xba I polymorphism 3' to the human erythropoietin (EPO) gene. (1987) (8)
Mapping of the human holocarboxylase synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22. (1996) (8)
Apolipoprotein B Gene Haplotypes: Association between Ag and DNA Polymorphisms (1988) (8)
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele (2012) (8)
Molecular mapping of chromosome 21 and the region responsible for Down syndrome. (1989) (8)
Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21. (1992) (8)
Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. (1992) (7)
Recombinant DNA technology in the diagnosis of human genetic disorders. (1989) (7)
The 21q22.1 STS marker, VN02 (EST00541 cDNA), is part of the 3' sequence of the human Na+/myo-inositol cotransporter (SLC5A3) gene. (1996) (7)
Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. (1992) (7)
Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A (1988) (7)
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder (2021) (7)
Linkage mapping of the cystathionine β-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region (2004) (7)
Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21. (1995) (7)
Human Gene Mutation: Mechanisms and Consequences (2010) (7)
Assignment1 of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping (1999) (6)
Lessons from the Genome-Wide Association Studies for Complex Multifactorial Disorders and Traits (2010) (6)
Dinucleotide repeat polymorphism within ERCC5 gene. (1994) (6)
Human gene mutation in inherited disease: Molecular mechanisms and clinical consequences (2013) (6)
Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene. (1986) (6)
Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants (2019) (6)
Scott Isolation and characterization of the UBASH 3 A gene on 21 q 22 . 3 encoding a potential nuclear protein with a novel combination of domains (6)
Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21 a (1985) (6)
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). (1999) (6)
Familial epilepsy in Algeria: Clinical features and inheritance profiles (2015) (5)
Array‐CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation (2010) (5)
SCN8A heterozygous variants are associated with anoxic‐epileptic seizures (2020) (5)
The SH3D1A gene maps to human chromosome 21q22.1-->q22.2. (1997) (5)
Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes (2020) (5)
beta-Amyloid gene is not present in three copies in autopsy-validated Alzheimer's disease. (1987) (5)
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (5)
DNAH3: Characterization of the sequence and mutation search in patients with Primary Ciliary Dyskinesia (2002) (5)
Beta-thalassemia in China: a systematic molecular characterization of beta-thalassemia mutations. (1988) (5)
Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome (2007) (5)
The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypes (2001) (5)
Two polymorphisms for the human hepatic lipase (HL) gene. (1988) (5)
Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China. (1988) (5)
Sequence variation in ultraconserved and highly conserved elements does not cause X‐linked mental retardation (2007) (5)
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. (1993) (5)
YAC cloning of DNA embedded in an agarose matrix. (1990) (5)
Deciphering cell lineage specification during male sex determination with single-cell RNA sequencing (2017) (5)
PIGG variant pathogenicity assessment reveals characteristic features within 19 families (2021) (5)
BglII polymorphic site downstream to the human apolipoprotein AIV (apoAIV) gene. (1986) (4)
Trisomic Phase Inference (2002) (4)
Transcriptional and post-transcriptional profile of human chromosome 21. (2009) (4)
A molecular genetic approach to amyotrophic lateral sclerosis. (1991) (4)
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3. (2000) (4)
Cytological and molecular studies of nucleolar organizing region variants and recombination in trisomy 21. (1989) (4)
Extensive Natural Variation for Cellular Hydrogen Peroxide Release Is Genetically Controlled (2012) (4)
CpG Dinucleotides and Human Disorders (2006) (4)
Erratum: Severe hemophilia A in a female by cryptic translocation: Order and orientation of factor VIII within Xq28 (Genomics (1993) 16:1 (20-25)) (1993) (4)
Genomic databases: A WHO affair (2017) (3)
Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations. (1983) (3)
A novel form of human polymorphism involving the hDHFR-psi 1 pseudogene identifies three RFLPs (1987) (3)
An MspI polymorphism at the MX1 locus in 21q22.3. (1991) (3)
The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia. (1983) (3)
Human genome meeting 2016 (2016) (3)
The CEPH consortium linkage map of human chromosome 13. (1993) (3)
Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat (1991) (3)
Human genome meeting 2016 (2016) (3)
A DNA polymorphism with KpnI of the human liver-type phosphofructokinase (PFKL) gene. (1988) (3)
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non‐syndromic autosomal recessive deafness (2002) (3)
correction: The DNA sequence of human chromosome 21 (2000) (3)
“Old” and “New” Syndromes with Uniparental Disomy (2002) (3)
Mutations in human disease: nature and consequences (2002) (3)
From sequence to functional understanding: the difficult road ahead (2011) (3)
Erratum: Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition (Nucleic Acids Research (1994) 22 (3511-3533)) (1994) (2)
HEMOPHILIA A: RECURRENT MUTATIONS AND AN UNUSUAL DELETION (1987) (2)
Abstracts of the 8th International Meeting (1999) (2)
Rare pathogenic variants in WNK3 cause X-linked intellectual disability. (2022) (2)
Chromosome 21 and Down syndrome: the post-sequence era. (2003) (2)
Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene (1989) (2)
Short arms of human acrocentric chromosomes and the completion of the human genome sequence (2022) (2)
Correction to: Specific Susceptibility to COVID-19 in Adults with Down Syndrome (2021) (2)
MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population (2004) (2)
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. (2022) (2)
Prenatal diagnosis and carrier detection by DNA analysis. (1992) (2)
D21S210: A highly polymorphic (GT)n marker closely linked to the β-amyloid protein precursor (APP) gene (1993) (2)
Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy (2020) (2)
Title DNA-Methylation Patterns in Trisomy 21 Using Cells fromMonozygotic Twins (2018) (2)
History of the methodology of disease gene identification (2021) (2)
Welcome to PathoGenetics (2008) (2)
Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome (2004) (2)
Premeiotic trisomy 21 in oocytes and Down syndrome: a reply to Zheng and Byers's hypothesis. (1996) (2)
A response to Suzuki et al. “How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?” (2005) (2)
The molecular basis of hemophilia A (factor VIII deficiency) in man; progress report from the Johns Hopkins University Hemophilia Project. (1990) (2)
Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes (2015) (2)
Mapping by Sequence Homology (1996) (2)
Next generation diagnostics on cardiomyopathy (2014) (2)
Two PstI DNA polymorphisms adjacent to the human gene for the interferon-induced p78 protein (MX1 gene). (1989) (2)
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder (2021) (2)
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications (2021) (2)
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2. (2021) (2)
Hemophilia A persistence and gene mutational vulnerability. (1987) (2)
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls (2009) (2)
January 2003 (2002) (2)
Correction: Genetic Structure of Europeans: A View from the North–East (2010) (2)
Three decades of the Human Genome Organization (2021) (2)
Approaches to the Diagnosis of Renal Genetic Disorders Using DNA Analysis (1990) (2)
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? (2012) (2)
Trapping and sequence analysis of 1138 putative exons from human chromosome 18 (2003) (2)
- Beuren syndrome patients with atypical segmental aneuploidies identify new Two high throughput technologies to detect (2006) (2)
Erratum to: The Molecular Genetics of Hemophilia A and B in Man (1988) (1)
Disease: Greig Cephalopolysyndactyly syndrome (2003) (1)
Summary Report 1 (1999) (1)
Perturbations of Heart Development and Function in Cardiomyocytes from hESC with Trisomy 21 (2015) (1)
myoclonic epilepsy Association of the connexin36 gene with juvenile (2005) (1)
Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. (1998) (1)
CLINICAL, NEURORADIOLOGICAL AND MOLECULAR INVESTIGATION OF ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): DISSECTION OF LAMIN B1-MEDIATED PATHOPHYSIOLOGICAL MECHANISMS IN CELLULAR AND MOUSE MODELS (2011) (1)
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay (2017) (1)
Highly polymorphic repeat marker within the beta-amyloid precursor protein gene. (1994) (1)
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. (2023) (1)
Pvull and Xhol/EcoRV polymorphisms adjacent to the α- A-crystallin (CRYA1) gene on human chromosome 21 (1990) (1)
Content and Variation of the Human Genome (2016) (1)
TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm (2013) (1)
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. (2022) (1)
Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis (2015) (1)
Mutations in human genetic disease: nature and consequences (2003) (1)
Prenatal diagnosis by restriction analysis: methodology and experience. (1982) (1)
PvuII and XhoI/EcoRV polymorphisms adjacent to the alpha A-crystallin (CRYA1) gene on human chromosome 21. (1990) (1)
Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes (1998) (1)
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder (2021) (1)
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy. (2022) (1)
Human Genomic Variants and Inherited Disease (2019) (1)
The D 1424 N MYH 9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly / Fechtner syndrome (2003) (1)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (1)
Chromosome 21 genetic linkage data set based on CEPH pedigrees. (1992) (1)
RECURRENT MUTATIONS AND AN UNUSUAL DELETION IN HEMOPHILIA A (1987) (1)
The human genome project and its impact in medicine (1996) (1)
Narrowing of a susceptibility region for schizophrenia on chromosome 8P21-P22 to within 4MB: (1996) (1)
Identification and analysis of functional elements in 1 % of the human genome by the ENCODE pilot project The ENCODE Project Consortium * (2007) (1)
Correction to: Specific Susceptibility to COVID-19 in Adults with Down Syndrome (2021) (1)
EGASP: the human ENCODE Genome Annotation Assessment (2015) (1)
Analysis of the Born in Bradford birth cohort (2014) (1)
Time and space dimensions of gene dosage imbalance of aneuploidies revealed by single cell transcriptomes (2018) (1)
implications for mechanisms of pathogenesis familial platelet disorder with predisposition to acute myelogenous leukemia: In vitro analyses of known and novel RUNX1/AML1 mutations in dominant (2013) (1)
Cover Image, Volume 40, Issue 3 (2019) (1)
Highly polymorphic repeat marker within the β-amyloid precursor protein gene (2004) (1)
Amino Acid Substitutions in the Factor VIII Coagulation Protein that Cause Hemophilia A in Man1 (1991) (1)
Trisomy 21: chromosome 21 and Down syndrome (1989) (1)
DNAH3: characterisation of the full length gene and mutation search in patients with Primary Ciliary Dyskinesia (2001) (1)
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells (2017) (1)
Chromosome mapping using DNA probes: a case study (chromosome 11) and future possibilities. (1987) (1)
Wes of a Consanguineous Family with Schizophrenia and Mental Retardation in North Algeria. (2015) (1)
Genetic analysis workshop IV: The 11p data sets (1986) (1)
Guidelines for Human Gene Mapping (1997) (1)
Use of DNA Polymorphisms to Establish the Linkage Map of the Pth, Beta-Globin, C-Ha-Ras-1, and Insulin Loci on 11p (1984) (1)
Next generation diagnostics on cardiomyopathy (2014) (1)
Nonrandom association of polymorphic restriction sites in the f 3-globin gene cluster ( DNA polymorphism / hemoglobinopathies / population haplotype frequencies / prenatal diagnosis ) (1)
HEMOPHILIA A: EXPERIENCE WITH PRENATAL DIAGNOSIS AND CARRIER DETECTION USING DNA ANALYSIS (1987) (1)
No deleterious mutations were found in three genes on human chromosome 17q in patients with Primary Ciliary Dyskinesia (2000) (1)
TheLocusforCombinedFactor V-Factor VilDeficiency (F5F8D) Mapsto18q21, between D18S849andD18S1103 (1997) (0)
Abstracts of the 37th American Cytogenetics Conference (2002) (0)
c-Ha-ras-1 Oncogene Lies between P-Globin and Insulin Loci on Human Chromosome lp (2006) (0)
Expression atlas of the mouse orthologues of the Williams-Beuren syndrome critical region genes (2003) (0)
Resource Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing (2018) (0)
Editorial Board (2011) (0)
Non-Mendelian inheritance in split-hand/foot malformation associated with CNVs on chromosome 17p (2011) (0)
Factor VIII (F8) inversions in severe hemophilia A: Male germ cell origin and diagnosis with RT-PCR (1994) (0)
Kindreds for the APP (2006) (0)
Recurrent 1q21.1 microdeletions associated with variable disease phenotypes (2008) (0)
Genetic Counseling and Prenatal Diagnosis (2002) (0)
MOLECULAR DIAGNOSIS OF HAEMOPHILIA A AND OTHER COAGULATION DISORDERS 35 (1997) (0)
Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p1 3.3 and Identification of a Potential Second Locus, on 1 9q1 3.4 (2006) (0)
Gene defects in beta-thalassemia and their prenatal diagnosis. (1990) (0)
MYELOID NEOPLASIA Exome sequencing identi ﬁ es putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome (2013) (0)
Genomic Imprinting in the Mouse (2002) (0)
List of Contributors (2019) (0)
Excess Synaptojanin 1 Co ntributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer ’ s Disease Graphical Abstract Highlights (0)
Pontine tegmental cap dysplasia (2020) (0)
Multipoint mapping studies of the beta-globin, insulin, and c-Ha-ras-1 loci on 11p. (1986) (0)
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome (2023) (0)
On the origin and spread of fJ-thalassemia: Recurrent observation of four mutations in different ethnic groups (0)
Epilogue of an Unfinished Story (2002) (0)
Vogel and Motulsky's Human Genetics-ReadingSample (2016) (0)
Human chromosome 21: Linkage mapping and cloning in yeast artificial chromosomes (1991) (0)
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2 (2020) (0)
The Human Genome: a challenge for the theological arguments? (2018) (0)
Origin of the /3-globin gene in Blacks mutation or gene conversion or both (haplotypes/hemoglobinopathies/sickle cell anemia/DNA polymorphis (2016) (0)
Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants of CYP2U1 (2023) (0)
The Beckwith‐Wiedemann Syndrome (BWS) (2002) (0)
Contents Vol. 123, 2008 (2009) (0)
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees (2023) (0)
Detection of Uniparental Disomy and Imprinting by DNA Analysis (2002) (0)
Etiology of Human Disease at the DNA Level. Based on Papers Presented at a Symposium Held in Bjorkborn, Karlskoga, Sweden, 11-14 June 1990.Jan Lindsten , Ulf Pettersson (1993) (0)
Advances in Human Genetics 1 (1988) (0)
Two-dimensional electrophoresis southern transfer method for detecting human genome variability using a LINE-1 sequence probe. (1995) (0)
The analysis of nondisjunction in human ovarian teratomas using dna markers (1991) (0)
Trisomy for Synaptojanin1 in Down’s Syndrome is Functionally Linked to the Enlargement of Early Endosomes, the First Morphological Evidence of Alzheimer’s Disease (2011) (0)
Human genome meeting 2016 (2016) (0)
Genetic variation and human disease: Principles and evolutionary approaches: (Cambridge studies in biological anthropology vol. 11) by Kenneth M. Weiss Cambridge University Press, 1993. £45.00/$69.95 hbk (384 pages) ISBN 0 521 33421 7 (1994) (0)
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes (2012) (0)
255. Dnmt3L: a coordinator of epigenetic modifications during spermatogenesis (2004) (0)
Down Syndrome‐Hirschsprung Linked through RET Enhancer (2009) (0)
analysis of transcription , and evolution Pseudogenes in the ENCODE regions : Consensus annotation , Material Supplemental (2007) (0)
Contributors and Participants (1982) (0)
Contents Vol. 100, 2003 (2003) (0)
Subject Index Vol. 92, 2001 (2001) (0)
Amino acid substitutions in the factor VIII coagulation protein that cause hemophilia A in man. (1991) (0)
Research Letter Sequence Variation in Ultraconserved and Highly Conserved Elements Does Not Cause X-Linked Mental Retardation (2007) (0)
Animal Cytogenetics and Comparative Mapping (2001) (0)
Author and Subject Index (2011) (0)
Pontine Tegmental Cap Dysplasia: A rare hindbrain malformation and the search of the genetic etiology (2015) (0)
Carrier screening for recessive disorders (2019) (0)
Subject Index Vol. 84, 1999 (1999) (0)
Title : Variation in novel exons ( RACEfrags ) of the MECP 2 gene in Rett syndrome patients and controls (0)
PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES BY RESTRICTION ANALYSIS: METHODOLOGY AND EXPERIENCE (1982) (0)
Molecular dissection of the contribution of single genes to changes in global gene expression in Down syndrome (2001) (0)
Disruptions of distant regulatory elements outside FOXL2 in BPES syndrome: exploring the role of microdeletions and variants in Conserved Non-Coding sequences (CNCs) (2008) (0)
Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types (2017) (0)
412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders (2012) (0)
[Multidisciplinary management of hereditary colorectal cancer]. (2001) (0)
hMLH 1 mutation . an extended HNPCC family with an ancestral Complex genetic predisposition to cancer in (0)
Hearing Loss Is Not an Obligatory Hallmark of SPATA5 Early-Onset Epileptic Encephalopathy with Microcephaly and Hypomyelination (2022) (0)
Contents, Vol. 78, 1997 (1997) (0)
P3987Targeted exome sequencing for mendelian cardiac disorders within the Genome Clinic in Geneva (2017) (0)
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder. (2022) (0)
Towards an integrated chromosome 21 map: progress of the European chromosome 21 consortium. (1996) (0)
BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients (2012) (0)
Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype (2022) (0)
[The contribution of molecular genetics to clinical cardiology: the example of hypertrophic cardiomyopathy]. (2005) (0)
Prenatal Diagnosis and Carrier Detection by DNA Analysis (1992) (0)
Masthead (2011) (0)
117 SPLIT HAND-SPLIT FOOT MALFORMATION 3 AT 10Q24: CLINICAL AND LABORATORY DIAGNOSIS AND GENE SEARCH. (2006) (0)
A Distant Regulatory 7.4 Kb Deletion Upstream of FOXL2 Causes BPES (2009) (0)
A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY (2012) (0)
STK11 (LKB1) and Peutz-Jeghers Syndrome (2016) (0)
The 36th American Cytogenetics Conference (2000) (0)
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders (2016) (0)
SHANK3 mutation in consanguineous schizophrenia family in northwest Algeria (2017) (0)
Molecular heterogeneity of beta-thalassemia in mestizo Mexicans. (1991) (0)
Consangunity and psychosis in Algeria. A family study (2015) (0)
Title : Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK 2 mutations (2018) (0)
Mechanisms Generating Uniparental Disomy and Genomic Imprinting Disorders (2002) (0)
Molecular characterization of beta-thalassemia major and beta-thalassemia intermedia in China and Southeast Asia. (1987) (0)
Uniparental Disomy for Individual Human Chromosomes: Review of Cases (2002) (0)
The ‘X–Linked’ Severe Form of Myopia Locus at Xq28 (MYP1): Narrowing of the Critical Region and Exclusion of Twelve Known Genes Localized in the Interval (2005) (0)
fl-Thalassemia in Chinese : Use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects ( RNA splicing / DNA polymorphism haplotypes / transient gene expression ) (0)
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (2021) (0)
2019 William Allan Award (2020) (0)
CATCHing putative causative variants in consanguineous families (2015) (0)
Contents Vol. 97, 2002 (2002) (0)
Islands of euchromatic-like sequence and expressed genes within the short arm of HSA21: sequence and copy number variability. (2006) (0)
Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy (2020) (0)
Novel class of human RNAs associated with gene termini suggests an uncharacterized RNA copying mechanism (2022) (0)
Evidence for multiple origins of the fiE-globin gene in Southeast Asia ( DNA polymorphisms / haplotypes / population genetics / hemoglobinopathies ) (2003) (0)
Transcriptome modifications in postnatal cerebellum devleopment of Ts1Cje mice, a model for Trisomy 21 (2004) (0)
Identification, Characterization, and Treatment for a Taurine Transporter (SLC6A6) Variant Resulting in Taurine Deficiency and Pathologies in a Consanguineous Family. (2020) (0)
genome Structured RNAs in the ENCODE selected regions of the human Related Content (2007) (0)
Subject Index, Vol. 70, 1995 (1995) (0)
Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome (2015) (0)
(3-Thalassemia inAmerican Blacks: Novel mutations inthe"TATA"boxand anacceptor splice site (DNApolymorphism haplotypes/transient geneexpression/RNA processing) (1984) (0)
Primary Ciliary Dyskinesia: A search for the responsible genes through linkage and candidate gene approaches (2000) (0)
William Allan Award Introduction: Haig H. Kazazian, Jr. (2009) (0)
Masthead (2011) (0)
Author response: The genomic landscape of human cellular circadian variation points to a novel role for the signalosome (2017) (0)
Origin of the i 3 S-globin gene in Blacks : The contribution of recurrent mutation or gene conversion or both ( haplotypes / hemoglobinopathies / sickle cell anemia / DNA polymorphisms ) (0)
Addendum to the report of the fourth international workshop on human chromosome 12 mapping 1997 (1997) (0)
Human genome meeting 2016 (2016) (0)
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation (2015) (0)
Pontine Tegmental Cap Dysplasia: A rare case in pediatric neurology and the search of the genetic etiology (2015) (0)
RING 21 CHROMOSOME: LOCALIZATION OF THE BREAKPOINTS WITHIN A 2 KB DNA FRAGMENT (1984) (0)
Human Chromosome 21: Mapping of the chromosomes and cloning of cDNAs (1991) (0)
A novel TMPRSS 3 missense mutation in a DFNB 8 / 10 family prevents proteolytic activation of the protein WATTENHOFER (2018) (0)
A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig 1 and Olig 2 locus FRIEDLI (2017) (0)
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother (2018) (0)
The Angelman Syndrome (AS) (2002) (0)
A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1 (2013) (0)
Biallelic variants in KIF14 cause intellectual disability with microcephaly (2018) (0)
The Prader‐(Labhardt)‐Willi Syndrome (2002) (0)
Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci. (1993) (0)
ic andhypoxia-inducibl e expression ofthehuman erythropoietin geneintransgenic mice (enhancer elements/gene regulation/in situ hybridization/polycythemia) (1991) (0)
Masthead (2016) (0)
Improving leukemic CD34+/CD38− blasts characterization with single-cell transcriptome sequencing (2017) (0)
Is Hydroxyurea Leukemogenic in Essential Thrombocythemia? (1998) (0)
AN INTACT GENOME, ISOGENIC HIPSC MODEL FROM A MOSAIC DOWN SYNDROME INDIVIDUAL REVEALS NEUROGENESIS AND MITOCHONDRIAL DEFECTS CAUSED BY TRISOMY 21 (2013) (0)
Subject Index Vol. 97, 2002 (2002) (0)
The effect of genetic variation on promoter usage and enhancer activity (2017) (0)
Structure of the human CRFB4 gene: Comparison with its IFNAR neighbor (2004) (0)
Subject Index Vol. 100, 2003 (2003) (0)
Summary Report<footref rid="foot01">1</footref> (1999) (0)
identifies novel differentially methylated regions on chromosome Methylation profiling in individuals with uniparental disomy Material Supplemental (2017) (0)
Dodecamer Repeat Expansion in Progressive Myoclonus Epilepsy 1 (2006) (0)
[MOOCs (Massive Open Online Courses): the end of conventional medical schools?]. (2014) (0)
FOXI3 pathogenic variants cause one form of craniofacial microsomia (2023) (0)
Galanin pathogenicmutations in temporal lobe epilepsy (2015) (0)
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree (2016) (0)
Multi-omic measurements of heterogeneity in HeLa cells across laboratories (2019) (0)
Subject Index, Vol. 78, 1997 (1997) (0)
The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype (2015) (0)
Genetic heterogeneity is extensive in beta thalassemia (1983) (0)
and Marguerite T → IVS 4 ? + ? 1 G FGA afibrinogenemia mutation , Activation of multiple cryptic donor splice sites by the common congenital (2001) (0)
for the phenotypes in May-Hegglin anomaly / Fechtner syndrome mutation results in an unstable protein responsible MYH 9 Asp (2003) (0)

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