S. Antonarakis

R. Delorme, M. Leboyer, C. N. Henrichsen, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy

S. Antonarakis, 2020, European Journal of Human Genetics.

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

S. Antonarakis, A. Takata, N. Matsumoto, 2020, Human mutation.

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.

A. V. Vulto-van Silfhout, S. Antonarakis, B. Asselbergh, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Apolipoprotein B-100 Hopkins (arginine4019----tryptophan). A new apolipoprotein B-100 variant in a family with premature atherosclerosis and hyperapobetalipoproteinemia.

S. Antonarakis, P. Bachorik, M. Miller, 1989, JAMA.

Molecular genetics of hemophilia A in man (factor VIII deficiency).

S. Antonarakis, H. Youssoufian, H. Kazazian, 1987, Molecular biology & medicine.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

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

S. Antonarakis, H. Scott, M. Lalioti, 2003, Cytogenetic and Genome Research.

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

S. Antonarakis, S. Gimelli, F. Béna, 2015, Sexual Development.

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.

K. Buetow, S. Antonarakis, H. Kazazian, 1989, American journal of human genetics.

Arg16 homozygosity of the β2‐adrenergic receptor improves the outcome after β2‐agonist tocolysis for preterm labor

S. Antonarakis, J. Blouin, R. Landau, 2005 .

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

A. Chakravarti, S. Antonarakis, C. Rossier, 1996, American journal of human genetics.

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

S. Antonarakis, C. Der, J. Sondek, 2003, Biochimica et biophysica acta.

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

S. Antonarakis, H. Kazazian, M. Higuchi, 1990, Genomics.

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.

Praveen Sethupathy, Artemis G Hatzigeorgiou, Gregory R Grant, 2007, American journal of human genetics.

Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours

S. Antonarakis, S. Nikolaev, P. Makrythanasis, 2017, The Journal of pathology.

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

S. Antonarakis, S. Nikolaev, D. Robyr, 2012, Cancer research.

ic andhypoxia-inducibl e expression ofthehuman erythropoietin geneintransgenic mice (enhancer elements/gene regulation/in situ hybridization/polycythemia)

S. Antonarakis, G. Semenza, J. Gearhart, 1991 .

An Xba I polymorphism 3' to the human erythropoietin (EPO) gene.

S. Antonarakis, G. Semenza, J. Ladias, 1987, Nucleic Acids Research.

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

S Povey, P J McAlpine, J Frezal, 1997, Genomics.

Gene age predicts the strength of purifying selection acting on gene expression variation in humans.

E. Dermitzakis, T. Lappalainen, S. Antonarakis, 2014, American journal of human genetics.

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

Y. Hérault, J. Rossier, S. Antonarakis, 2009, Journal of neuroscience research.

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

S. Antonarakis, K. McElreavey, S. Nath, 2007, American journal of human genetics.

Linkage mapping of the cystathionine β-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region

A. Chakravarti, S. Antonarakis, D. Avramopoulos, 2004, Human Genetics.

D21S210: A highly polymorphic (GT)n marker closely linked to the β-amyloid protein precursor (APP) gene

M. McInnis, A. Chakravarti, S. Antonarakis, 1993, Human Genetics.

Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.

A. Chakravarti, S. Antonarakis, D. Avramopoulos, 1992, Genomics.

Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.

A. Chakravarti, S. Antonarakis, D. Avramopoulos, 1992, Genomics.

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

S. Antonarakis, Xiang-Jiao Yang, E. Beaver, 2020, American journal of human genetics.

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

J. Bailey, D. Cox, A. Chakravarti, 2000, Genome research.

The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia

S. Orkin, S. Antonarakis, F. Grosveld, 1983 .

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]

S. Antonarakis, G. Thomas, E. Mules, 1986, Human Genetics.

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

D. Misceo, S. Antonarakis, S. Riazuddin, 2017, Genetics in Medicine.

The implications of alternative splicing in the ENCODE protein complement

Hagen Blankenburg, Fidel Ramírez, Thomas Lengauer, 2007, Proceedings of the National Academy of Sciences.

Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer’s Disease

S. Antonarakis, F. Schmitt, S. A. Hussaini, 2018, Cell Reports.

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

S. Antonarakis, C. Rossier, S. Israels, 2013 .

Erratum: The DNA sequence of human chromosome 21: The chromosome 21 mapping and sequencing consortium (Nature (2000) 405 (311-319))

Shinsei Minoshima, Susumu Mitsuyama, Yoshiyuki Sakaki, 2000 .

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

A. Chakravarti, S. Antonarakis, R. White, 1995, Human molecular genetics.

Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

S. Antonarakis, D. Nižetić, S. Gimelli, 2015, Stem cells.

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

Fabrice de Chaumont, Marie-Claude Potier, Alexander Hoischen, 2012, Human molecular genetics.

Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.

S. Antonarakis, G. Cutting, Y. Yamada, 1988, Genomics.

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

S. Antonarakis, M. Lalioti, Haiming Chen, 1996, Human Genetics.

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

S. Antonarakis, P. Peterson, C. Rossier, 1998, Genomics.

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

S. Antonarakis, K. Kawasaki, S. Minoshima, 1998, Human Genetics.

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

S. Antonarakis, C. Rossier, M. Guipponi, 1998, Human Genetics.

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

S. Antonarakis, A. Paoloni-Giacobino, Haiming Chen, 1997, Genomics.

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

X. Estivill, S. Antonarakis, M. Nadal, 1996, Human Genetics.

EGASP: the human ENCODE Genome Annotation Assessment

E. Birney, M. Ashburner, S. Lewis, 2015 .

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

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

S. Antonarakis, B. Olsen, T. Krieg, 2001, Cytogenetic and Genome Research.

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

S. Antonarakis, K. Calvo, P. Knoepfler, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Apolipoprotein A1 Baltimore (Arg10→Leu), a new ApoA1 variant

S. Antonarakis, S. Karathanasis, J. Ladias, 1990, Human Genetics.

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

S. Antonarakis, N. Shimizu, J. Kudoh, 1998, Immunology today.

DNA polymorphism and molecular pathology of the human globin gene clusters

S. Orkin, S. Antonarakis, H. Kazazian, 2004, Human Genetics.

DNA polymorphism and molecular pathology of the human globin gene clusters

S. Orkin, S. Antonarakis, H. Kazazian, 2004, Human Genetics.

Peutz-Jeghers Syndrome: Confirmation of Linkage to Chromosome 19p1 3.3 and Identification of a Potential Second Locus, on 1 9q1 3.4

S. Antonarakis, A. Bermejo-Fenoll, Richards, 2006 .

Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).

P. Oettgen, S. Antonarakis, S. Karathanasis, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Isolation and initial characterization of the mouse Dnmt3l gene

S. Antonarakis, R. Lyle, P. Peterson, 2001, Cytogenetic and Genome Research.

Animal Cytogenetics and Comparative Mapping

S. Antonarakis, R. Lyle, P. Koopman, 2001 .

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

S. Orkin, S. Antonarakis, H. Kazazian, 1984, Proceedings of the National Academy of Sciences of the United States of America.

The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

S. Antonarakis, H. Kazazian, W. H. Lo, 1986, Human Genetics.

Specific BACE1 genotypes provide additional risk for late‐onset alzheimer disease in APOE ε4 carriers

S. Antonarakis, C. Bouras, F. Herrmann, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

S. Antonarakis, S. Deutsch, S. Ferrari, 2005, Current opinion in lipidology.

Mutation in GLI3 in postaxial polydactyly type A

K. Grzeschik, S. Antonarakis, U. Radhakrishna, 1997, Nature Genetics.

Molecular heterogeneity of β-thalassemia in Mestizo Mexicans

S. Antonarakis, H. Kazazian, B. Ibarra, 1991 .

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

S. Antonarakis, A. F. Scott, S. Charache, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.

S. Antonarakis, H. Youssoufian, C. Wong, 1988, American journal of human genetics.

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

S. Antonarakis, H. Kazazian, H. Inaba, 1989, Human Genetics.

Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

S. Antonarakis, H. Kazazian, C. Boehm, 1982, Proceedings of the National Academy of Sciences of the United States of America.

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

S. Antonarakis, H. Scott, R. Chrast, 1999, Transgenic Research.

Comprar Vogel and Motulsky's Human Genetics · Problems and Approaches | Speicher, Michael | 9783540376538 | Springer

S. Antonarakis, M. Speicher, A. Motulsky, 2010 .

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, Molecular Neurobiology.

A response to Suzuki et al. “How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?”

A. Reymond, S. Antonarakis, S. Deutsch, 2005 .

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

S. Antonarakis, H. Scott, M. Guipponi, 2008, Frontiers in bioscience : a journal and virtual library.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Polymorphism and molecular pathology of the human beta-globin gene.

S. Orkin, S. Antonarakis, H. Kazazian, 1983, Progress in hematology.

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.

S. Orkin, S. Antonarakis, C. Boehm, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes

S. Antonarakis, H. Kazazian, F. Hill, 1998 .

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

S. Antonarakis, E. Falconnet, C. Borel, 2018, Proceedings of the National Academy of Sciences.

c-Ha-ras-1 Oncogene Lies between P-Globin and Insulin Loci on Human Chromosome lp

S. Antonarakis, D. Meyers, M. Levine, 2006 .

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

S. Antonarakis, C. Rossier, H. Chen, 1996, Genomics.

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

A. Reymond, X. Estivill, S. Antonarakis, 2005, Human mutation.

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

S. Antonarakis, P. Makrythanasis, N. Al-Allawi, 2014, BMC Medical Genetics.

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

S. Antonarakis, M. Higuchi, H. Kazazian, 1989, Proceedings of the National Academy of Sciences of the United States of America.

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)

S. Antonarakis, D. Nižetić, G. Basso, 1998, Genes, chromosomes & cancer.

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

S. Antonarakis, H. Chen, 1995, Genomics.

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

S. Antonarakis, T. Stossel, M. Glogauer, 2001, Nature Cell Biology.

DNA polymorphisms in the 3' untranslated region of genes on human chromosome 21.

A. Chakravarti, S. Antonarakis, D. Avramopoulos, 1993, Genomics.

Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels.

S. Antonarakis, J. Coresh, P. Kwiterovich, 1992, American journal of human genetics.

Specific Susceptibility to COVID-19 in Adults with Down Syndrome

Y. Hérault, S. Antonarakis, M. Frenkel-Morgenstern, 2021, NeuroMolecular Medicine.

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

S. Antonarakis, 2022, Genome research.

Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.

S. Antonarakis, H. Kazazian, C. Boehm, 1983, The New England journal of medicine.

Apolipoprotein B Gene Haplotypes: Association between Ag and DNA Polymorphisms

S. Antonarakis, V. Schumaker, A. Lusis, 1988, Arteriosclerosis.

Kindreds for the APP

Andrew, Eric, G. Schellenberg, 2006 .

Highly polymorphic repeat marker within the β-amyloid precursor protein gene

S. Antonarakis, C. Brahe, F. Tassone, 2004, Human Genetics.

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

S. Antonarakis, Nicolas Nicastro, J. Horvath, 2016, The Cerebellum.

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

S. Antonarakis, O. Haas, M. Morris, 2003, Human mutation.

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

S. Antonarakis, E. Chouery, A. Mégarbané, 2014, Bone.

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

S. Antonarakis, C. Rossier, M. Muenke, 1999 .

Deciphering cell lineage specification during male sex determination with single-cell RNA sequencing

Lee B. Smith, E. Dermitzakis, S. Antonarakis, 2017, bioRxiv.

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

S. Antonarakis, S. Gimelli, F. Béna, 2009, European journal of medical genetics.

Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.

S. Antonarakis, H. Kazazian, P. Waber, 1984, American journal of human genetics.

Is Hydroxyurea Leukemogenic in Essential Thrombocythemia?

S. Antonarakis, S. Sommer, G. Nozari, 1998 .

Down syndrome and the complexity of genome dosage imbalance

Stylianos E. Antonarakis, S. Antonarakis, 2016, Nature Reviews Genetics.

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

A. Hoischen, S. Antonarakis, S. Nikolaev, 2013, Blood.

Trisomy 21: chromosome 21 and Down syndrome

S. Antonarakis, 1989 .

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

M. Delorenzi, S. Antonarakis, S. Deutsch, 2007, American journal of human genetics.

Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A

S. Antonarakis, H. Kazazian, H. Youssoufian, 1988, Human Genetics.

Galanin pathogenic mutations in temporal lobe epilepsy.

S. Antonarakis, P. Ryvlin, A. Crespel, 2015, Human molecular genetics.

Galanin pathogenicmutations in temporal lobe epilepsy

Krista, Malika, S. Antonarakis, 2015 .

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.

S. Antonarakis, J. Constantino, L. Nosková, 2022, American journal of human genetics.

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

S. Antonarakis, R. Timpl, G. Cutting, 1991, Human Genetics.

Nonuniform Recombination within the Human P-Globin Gene Cluster

S. Antonarakis, H. Kazazian, P. Waber, 2006 .

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

S. Antonarakis, S. Eliez, A. Gos, 1997, American journal of medical genetics.

Abstracts of the 8th International Meeting

A. Rademaker, R. Eddy, T. Shows, 1999, Cytogenetic and Genome Research.

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

A. Sharp, S. Antonarakis, H. Brunner, 2010, Genome research.

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

N. de Leeuw, U. Surti, A. Pagnamenta, 2016, American journal of human genetics.

Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and Reunion

S. Antonarakis, J. Gusella, H. Kazazian, 1985, Annals of the New York Academy of Sciences.

The role of biobanking in rare diseases: European consensus expert group report.

S. Antonarakis, T. Meitinger, K. Kuhn, 2009, Biopreservation and biobanking.

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

S. Antonarakis, R. Lyle, K. Kawasaki, 2001, Human Genetics.

Methods for cloning large DNA segments as artificial chromosomes in S. cerevisiae.

S. Antonarakis, C. Connelly, P. Hieter, 1990 .

No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements.

S. Antonarakis, A. Schinzel, S. Basaran, 1992, American journal of human genetics.

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.

S. Antonarakis, M. Petersen, A. Schinzel, 1991, American journal of human genetics.

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

S. Antonarakis, N. Michelsen, L. Tranebjaerg, 2005, American journal of medical genetics. Supplement.

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.

S. Antonarakis, M. Petersen, A. Schinzel, 1990, American journal of human genetics.

A linkage map of three anonymous human DNA fragments and SOD‐1 on chromosome 21.

A. Chakravarti, S. Antonarakis, R. Tanzi, 1985, The EMBO journal.

Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.

M. B. Peterson, A. Chakravarti, S. Antonarakis, 1992, American journal of human genetics.

Evidence for multiple origins of the beta E-globin gene in Southeast Asia.

H. Ostrer, A. Chakravarti, S. Orkin, 1982, Proceedings of the National Academy of Sciences of the United States of America.

MYELOID NEOPLASIA Exome sequencing identi ﬁ es putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome

A. Hoischen, S. Antonarakis, S. Nikolaev, 2013 .

Fortuitous detection of uniparental isodisomy of chromosome 6.

S. Antonarakis, A. Gos, P. Tiberghien, 1997, Journal of medical genetics.

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

S. Antonarakis, C. Rossier, H. Scott, 1998, Genomics.

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

S. Antonarakis, H. Chen, 1997, Cytogenetics and Cell Genetics.

The Angelman Syndrome (AS)

S. Antonarakis, E. Engel, 2002 .

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

S. Antonarakis, C. Jefford, S. Gagos, 2008, Cancer research.

A Teratocarcinoma-Like Human Embryonic Stem Cell (hESC) Line and Four hESC Lines Reveal Potentially Oncogenic Genomic Changes

J. Kere, S. Antonarakis, S. Gimelli, 2010, PloS one.

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)

S. Antonarakis, C. Rossier, C. Gehrig, 2000, Cytogenetic and Genome Research.

The human gene encoding insulin-like growth factor I is located on chromosome 12

S. Antonarakis, A. V. van Kessel, J. Sussenbach, 2004, Human Genetics.

Nonuniform recombination within the human beta-globin gene cluster.

K. Buetow, A. Chakravarti, S. Antonarakis, 1984, American journal of human genetics.

William Allan Award Introduction: Haig H. Kazazian, Jr.

S. Antonarakis, 2009 .

DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels

S. Antonarakis, C. Derby, A. Lusis, 1991, Human Genetics.

Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21 a

A. Chakravarti, S. Antonarakis, J. Gusella, 1985, Annals of the New York Academy of Sciences.

Molecular genetics of coagulation factor VIII gene and haemophilia A

S. Antonarakis, 1998, Haemophilia : the official journal of the World Federation of Hemophilia.

Molecular heterogeneity of inherited antithrombin III deficiency.

S. Orkin, S. Antonarakis, E. Fearon, 1983, The New England journal of medicine.

Alpha thalassemia changes erythrocyte heterogeneity in sickle cell disease.

A. Schechter, S. Antonarakis, D. Weatherall, 1985, The Journal of clinical investigation.

Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis

S. Antonarakis, P. Makrythanasis, H. Hamamy, 2015 .

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

S. Antonarakis, H. Kazazian, J. Oldenburg, 1991, Proceedings of the National Academy of Sciences of the United States of America.

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.

S. Antonarakis, M. Higuchi, H. Kazazian, 1990, Blood.

Correction: Genetic Structure of Europeans: A View from the North–East

R. Mägi, L. Peltonen, X. Estivill, 2010, PLoS ONE.

Chromosomal localization and racial distribution of the polymorphic human dihydrofolate reductase pseudogene (DHFRP1).

S. O’Brien, S. Antonarakis, A. Nienhuis, 1988, American journal of human genetics.

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

S. Antonarakis, M. Petersen, M. Mikkelsen, 1997, Human Genetics.

A transmission disequilibrium and linkage analysis of D22S278 marker alleles in 574 families: further support for a susceptibility locus for schizophrenia at 22q12

R. Murray, H. Pétursson, D. Collier, 1998, Schizophrenia Research.

APECED mutations in the autoimmune regulator (AIRE) gene

S. Antonarakis, N. Shimizu, J. Kudoh, 2001, Human mutation.

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

S. Antonarakis, W. Reith, B. Mach, 1997, Human mutation.

Abstracts of the 37th American Cytogenetics Conference

C. Steinlein, M. Schmid, S. Antonarakis, 2002, Cytogenetic and Genome Research.

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

S. Antonarakis, C. Rossier, M. Morris, 1996, Genome research.

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

S. Antonarakis, M. Rutter, A. Buckler, 1995, Human molecular genetics.

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

S. Antonarakis, M. Morris, R. Chrast, 1995, Genomics.

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

M. Spielmann, S. Antonarakis, L. Pennacchio, 2015, Human molecular genetics.

The molecular genetics of hemophilia A and B in man. Factor VIII and factor IX deficiency.

S. Antonarakis, 1988, Advances in human genetics.

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

S. Antonarakis, J. Gearhart, H. Kazazian, 1995, Nature Genetics.

MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population

S. Antonarakis, H. Kazazian, H. Inaba, 2004, Human Genetics.

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

S. Antonarakis, H. Youssoufian, H. Kazazian, 1988, American journal of human genetics.

Characterization of five partial deletions of the factor VIII gene.

S. Antonarakis, H. Youssoufian, S. Aronis, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

S. Antonarakis, H. Kazazian, H. Youssoufian, 1986, Nature.

CARRIER TESTING STRATEGY IN HAEMOPHILIA A

S. Antonarakis, K. Davies, J. Phillips, 1986, The Lancet.

PRENATAL DIAGNOSIS OF HAEMOPHILIA A BY FACTOR VIII GENE ANALYSIS

S. Antonarakis, C. Caskey, H. Kazazian, 1985, The Lancet.

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

S. Antonarakis, M. Morris, M. Neerman-Arbez, 1999 .

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

F E Preston, P G Mori, S S Sommer, 1995, Blood.

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.

Yoshiaki Ito, Joëlle Michaud, Hamish S Scott, 2002, Blood.

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

S. Antonarakis, E. Falconnet, C. Borel, 2019, Nature Communications.

Time and space dimensions of gene dosage imbalance of aneuploidies revealed by single cell transcriptomes

S. Antonarakis, E. Falconnet, C. Borel, 2018, bioRxiv.

Molecular etiology of factor VIII deficiency in hemophilia A

S. Antonarakis, H. Kazazian, E. Tuddenham, 1995, Human mutation.

Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

B. Migeon, J. Axelman, S. Antonarakis, 1993, Genomics.

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

S. Antonarakis, H. Kazazian, M. Higuchi, 1997, American journal of human genetics.

The molecular basis of hemophilia A in man.

S. Antonarakis, H. Kazazian, 1988, Trends in genetics : TIG.

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene.

S. Antonarakis, H. Youssoufian, S. Aronis, 1988, Genomics.

Diagnosis of genetic disorders at the DNA level.

S. Antonarakis, 1989, The New England journal of medicine.

Human Genomic Variants and Inherited Disease

S. Antonarakis, D. Cooper, 2019, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Mutations in Human Genetic Disease

S. Antonarakis, D. Cooper, 2012 .

Human Gene Mutation: Mechanisms and Consequences

S. Antonarakis, D. Cooper, 2010 .

Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.

S. Antonarakis, H. Kazazian, H. Kazazian, 1991, Genomics.

Approaches to the Diagnosis of Renal Genetic Disorders Using DNA Analysis

S. Antonarakis, C. Francomano, 1990 .

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

S. Antonarakis, C. Rossier, M. Morris, 2000, Blood.

HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Molecular Analysis of the ERGIC-53 Gene in 35 Families With Combined Factor V-Factor VIII Deficiency

S. Antonarakis, C. Rossier, M. Morris, 2015 .

TheLocusforCombinedFactor V-Factor VilDeficiency (F5F8D) Mapsto18q21, between D18S849andD18S1103

S. Antonarakis, E. Tuddenham, 1997 .

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

S. Antonarakis, C. Rossier, M. Muenke, 1999, Human Genetics.

No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome.

S. Antonarakis, L. Jackson, N. De Marchi, 1994, American journal of medical genetics.

Down syndrome

S. Antonarakis, M. Rafii, R. Reeves, 2020, Nature Reviews Disease Primers.

The complete sequence of a human genome

Aaron M. Streets, Ira M. Hall, Nathan D. Olson, 2021, bioRxiv.

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

M. Peitsch, S. Antonarakis, C. Rossier, 1997, Genomics.

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

S. Antonarakis, H. Scott, M. Lalioti, 1999, Human molecular genetics.

Isolation and characterization of the mouse Aire gene.

S. Antonarakis, N. Shimizu, J. Kudoh, 1999, Biochemical and biophysical research communications.

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

P. Holmans, R. Straub, S. Antonarakis, 2000, American journal of human genetics.

Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5 q , 6 q , 10 p , and 13 q : Schizophrenia Linkage Collaborative Group III *

M. Owen, P. Holmans, R. Straub, 2022 .

Extensive Natural Variation for Cellular Hydrogen Peroxide Release Is Genetically Controlled

E. Dermitzakis, S. Antonarakis, T. Meitinger, 2012, PloS one.

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

J. Beckmann, S. Antonarakis, A. Telenti, 2008, Nucleic acids research.

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

C. V. Jongeneel, Robert Lyle, Emmanouil T Dermitzakis, 2005, Human molecular genetics.

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

S. Antonarakis, S. Deutsch, R. Lyle, 2004, Genome research.

Chromosome 21 and Down syndrome: the post-sequence era.

A. Reymond, E. Dermitzakis, S. Antonarakis, 2003, Cold Spring Harbor symposia on quantitative biology.

Positional cloning of the APECED gene

Shinsei Minoshima, Stylianos E. Antonarakis, Hamish S. Scott, 1997, Nature Genetics.

Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype1

R. Uibo, S. Antonarakis, G. Smyth, 2009, The Journal of Immunology.

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

S. Antonarakis, D. Avramopoulos, W. Lowther, 1994, Human mutation.

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

C. T. Morgan, S. Antonarakis, R. Lyle, 2006, American journal of medical genetics. Part A.

Vogel and Motulsky's Human Genetics

S. Antonarakis, M. Speicher, A. Motulsky, 2010 .

Mutation Nomenclature

S. Antonarakis, J. T. Dunnen, Stylianos E. Antonarakis, 2003, Current protocols in human genetics.

Vogel and Motulsky's Human Genetics: Problems and Approaches

S. Antonarakis, M. Speicher, F. Vogel, 1986 .

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Richard D Emes, S. Antonarakis, G. Pals, 2013, American journal of human genetics.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Richard D Emes, S. Antonarakis, G. Pals, 2013, American journal of human genetics.

Molecular mechanism in the formation of a human ring chromosome 21.

S. Antonarakis, W. Earnshaw, G. Stetten, 1989, Proceedings of the National Academy of Sciences of the United States of America.

DNA methylation profiles of human active and inactive X chromosomes.

Andrew J Sharp, Stephen B Montgomery, Manisha Brahmachary, 2011, Genome research.

Phenotypic variability in siblings with Farber disease.

H. Moser, S. Antonarakis, S. Qualman, 1984, The Journal of pediatrics.

Farber disease: pathologic diagnosis in sibs with phenotypic variability.

H. Moser, S. Antonarakis, J. Boitnott, 1987, American journal of medical genetics. Supplement.

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

S. Antonarakis, M. Resh, B. Conne, 2014, PLoS genetics.

10 years of Genomics, chromosome 21, and Down syndrome.

S. Antonarakis, 1998, Genomics.

A contiguous physical map of the pericentromeric region of chromosome 21q between D21Z1 and D21S13E.

M. McInnis, S. Antonarakis, L. Stuyver, 1993, Genomics.

Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both.

S. Antonarakis, E. Jabs, D. Meyers, 1991, Genomics.

Human chromosome 21: genome mapping and exploration, circa 1993.

S. Antonarakis, 1993, Trends in genetics : TIG.

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

C. Stefanis, A. Chakravarti, D. Housman, 1998, Nature Genetics.

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

S. Antonarakis, D. Avramopoulos, A. Schinzel, 1993, Nature Genetics.

Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome.

A. Chakravarti, S. Antonarakis, S. Slaugenhaupt, 1987, Science.

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

A. Reymond, D. Bertrand, S. Antonarakis, 2003, Gene.

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

S. Orkin, S. Antonarakis, H. Kazazian, 1982, Nature.

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

M. McInnis, S. Antonarakis, R. Margolis, 1995, Somatic cell and molecular genetics.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

S. Antonarakis, A. Serretti, E. Falconnet, 2018, Human molecular genetics.

Molecular characterization of β‐globin gene mutations in patients with β‐thalassaemia intermedia in South China

S. Antonarakis, Julie Kang, A. Li, 1988 .

Production of F cells in sickle cell anemia: regulation by a genetic locus or loci separate from the beta-globin gene cluster.

S. Antonarakis, G. Dover, S. Boyer, 1984, Blood.

Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia.

S. Orkin, S. Antonarakis, B. Alter, 1984, Blood.

Abnormal RNA processing due to the exon mutation of βE-globin gene

Stylianos E. Antonarakis, Stuart H. Orkin, Haig H. Kazazian, 1982, Nature.

Molecular characterization of seven beta‐thalassemia mutations in Asian Indians.

S. Orkin, S. Antonarakis, P. Waber, 1984, The EMBO journal.

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

S. Antonarakis, K. Krause, C. Borel, 2009, Human mutation.

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

Y. Hérault, J. Delgado-García, S. Antonarakis, 2009, Human molecular genetics.

Human chromosome 21 gene expression atlas in the mouse

Gregor Eichele, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, 2002, Nature.

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

S. Antonarakis, D. Kelsell, M. Dubé, 2000, European Journal of Human Genetics.

Gene Defects in β‐Thalassemia and Their Prenatal Diagnosis

S. Antonarakis, H. Kazazian, C. Boehm, 1990 .

Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions.

S. Antonarakis, H. Kazazian, G. Dover, 1991, Blood.

The cellular basis for different fetal hemoglobin levels among sickle cell individuals with two, three, and four alpha-globin genes.

S. Antonarakis, D. Higgs, G. Dover, 1987, Blood.

Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.

S. Orkin, S. Antonarakis, H. Kazazian, 1984, The Journal of biological chemistry.

Abnormal processing of beta Knossos RNA

S. Orkin, S. Antonarakis, D. Loukopoulos, 1984 .

Beta-thalassemia in China: a systematic molecular characterization of beta-thalassemia mutations.

S. Antonarakis, H. Kazazian, P. Waber, 1988, Hemoglobin.

Thalassemia due to a mutation in the cleavage‐polyadenylation signal of the human beta‐globin gene.

S. Orkin, S. Antonarakis, H. Kazazian, 1985, The EMBO journal.

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

S. Orkin, S. Antonarakis, P. Waber, 1982, Nature.

Early History of Mammals Is Elucidated with the ENCODE Multiple Species Sequencing Data

Bruno Nyffeler, E. H. Margulies, S. Antonarakis, 2007, PLoS genetics.

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

S. Antonarakis, B. Conrad, Stylianos E Antonarakis, 2007, Annual review of genomics and human genetics.

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.

A. Bairoch, S. Antonarakis, A. Gos, 1999 .

Extrachromosomal driver mutations in glioblastoma and low grade glioma

S. Antonarakis, S. Nikolaev, F. Béna, 2014, Nature Communications.

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

Xavier Estivill, Andrew J Sharp, Stefano Vicari, 2013, Genome research.

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?

S. Antonarakis, S. Gimelli, F. Béna, 2012, European journal of medical genetics.

Genomic determinants in the phenotypic variability of Down syndrome.

S. Antonarakis, A. Letourneau, 2012, Progress in brain research.

Lessons from the Genome-Wide Association Studies for Complex Multifactorial Disorders and Traits

J. Beckmann, S. Antonarakis, 2010 .

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

J. Beckmann, A. Sharp, S. Antonarakis, 2009, Cytogenetic and Genome Research.

Mendelian disorders deserve more attention

Stylianos E. Antonarakis, Jacques S. Beckmann, J. Beckmann, 2006, Nature Reviews Genetics.

Chromosome 21 and Down syndrome: from genomics to pathophysiology

Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, Alexandre Reymond, 2004, Nature Reviews Genetics.

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome.

S. Antonarakis, A. Bergen, A. C. Warren, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Promoter polymorphisms and allelic imbalance in ABCB1 expression

D. Goldstein, J. Beckmann, M. Weale, 2007, Pharmacogenetics and genomics.

The challenge of Down syndrome.

C. Epstein, S. Antonarakis, 2006, Trends in molecular medicine.

The nature and mechanisms of human gene mutation

Stylianos E. Antonarakis, Michael Krawczak, David Neil Cooper, 1995 .

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

A. Reymond, E. Dermitzakis, C. Ucla, 2005, PLoS genetics.

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

S. Antonarakis, A. Kengne, A. Wonkam, 2015, Omics : a journal of integrative biology.

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

Jonathan C. Cohen, A. Chakravarti, J. Hardy, 2010, Nature Reviews Genetics.

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat

J. Weber, M. McInnis, A. Chakravarti, 1991, Human Genetics.

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

J L Blouin, O Raoul, S. Antonarakis, 1994, American journal of human genetics.

Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21.

A. Chakravarti, S. Antonarakis, T. Cox, 1992, Genomics.

The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.

M. McInnis, A. Chakravarti, S. Antonarakis, 1992, American journal of human genetics.

A genetic linkage map of 27 markers on human chromosome 21.

A. Chakravarti, S. Antonarakis, S. Slaugenhaupt, 1991, Genomics.

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

L. Tsui, S. Antonarakis, H. Kazazian, 1990, The New England journal of medicine.

Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat.

J. Weber, A. Chakravarti, S. Antonarakis, 1990, Genomics.

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

L. Tsui, J. Zieleński, S. Antonarakis, 1990, Nature.

Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina.

S. Antonarakis, G. Uhl, H. Kazazian, 1991, Proceedings of the National Academy of Sciences of the United States of America.

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

S. Antonarakis, D. Duboule, F. Spitz, 2002, Genomics.

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

S. Antonarakis, S. Deutsch, T. Schwede, 2003, Blood.

The D 1424 N MYH 9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly / Fechtner syndrome

S. Antonarakis, S. Deutsch, T. Schwede, 2003 .

for the phenotypes in May-Hegglin anomaly / Fechtner syndrome mutation results in an unstable protein responsible MYH 9 Asp

S. Antonarakis, S. Deutsch, T. Schwede, 2003 .

Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants

S. Antonarakis, Brooke L. Sinnen, Matthew R. Taylor, 2019, The Journal of Neuroscience.

Guidelines for investigating causality of sequence variants in human disease

D. G. MacArthur, T. A. Manolio, D. P. Dimmock, 2014, Nature.

Chromosome 21: from sequence to applications.

S. Antonarakis, S. Antonarakis, 2001, Current opinion in genetics & development.

Vogel and Motulsky's Human Genetics-ReadingSample

S. Antonarakis, M. Speicher, A. Motulsky, 2016 .

Human Genome Sequence and Variation

S. Antonarakis, 2010 .

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

A. Bairoch, S. Antonarakis, A. Gos, 1999, Human Genetics.

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

S. Antonarakis, S. Eliez, M. Debbané, 2006, The American journal of psychiatry.

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

Stephan Eliez, Carl Feinstein, Booil Jo, 2005, Nature Neuroscience.

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

M. Baulac, V. Navarro, S. Antonarakis, 2014, Neurology.

History of the methodology of disease gene identification

S. Antonarakis, 2021, American journal of medical genetics. Part A.

Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients

Marie-Claude Addor, Michael A Morris, Jacques S Beckmann, 2008, American journal of medical genetics. Part A.

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.

S. Antonarakis, P. Pearson, G. Stetten, 1993, American journal of medical genetics.

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.

D. Murphy, S. Antonarakis, A. Reiss, 1992, American journal of medical genetics.

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kiely N. James, J. Lupski, S. Jhangiani, 2018, European Journal of Human Genetics.

genome Structured RNAs in the ENCODE selected regions of the human Related Content

M. Gerstein, Andrea Tanzer, A. Reymond, 2007 .

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

Sylvain Foissac, Philipp Kapranov, Thomas R. Gingeras, 2008, Nature Methods.

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

E. Dermitzakis, T. Lappalainen, S. Antonarakis, 2013, eLife.

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

S. Antonarakis, S. Gimelli, F. Béna, 2013, EMBO molecular medicine.

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

D. Housman, S. Antonarakis, M. Karayiorgou, 1995, American journal of medical genetics.

analysis of transcription , and evolution Pseudogenes in the ENCODE regions : Consensus annotation , Material Supplemental

M. Gerstein, J. Harrow, A. Frankish, 2007 .

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

Antony V. Cox, E. Eichler, A. Reymond, 2007, Genome research.

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

A. Reymond, C. Ucla, C. N. Henrichsen, 2001, Genomics.

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

A. Reymond, O. Jousson, S. Antonarakis, 2001, Human Genetics.

Title DNA-Methylation Patterns in Trisomy 21 Using Cells fromMonozygotic Twins

S. Antonarakis, D. Nižetić, C. Borel, 2018 .

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

S. Antonarakis, D. Nižetić, C. Borel, 2015, PloS one.

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.

E. Birney, E. Kirkness, A. Reymond, 2004, Genome research.

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

S. Antonarakis, Inayat Shah, A. Nazir, 2023, Genes.

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

S. Antonarakis, H. Jacobs, J. Isola, 1997, Biochemical and biophysical research communications.

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

S. Antonarakis, C. Rossier, H. Scott, 1997, Human Genetics.

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

P. Seeburg, S. Antonarakis, M. Higuchi, 1997, Genomics.

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Stylianos E. Antonarakis, Filip Pattyn, Frank Speleman, 2009, PLoS genetics.

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes

S. Antonarakis, S. Gagos, Christina Raftopoulou, 2020, Cancers.

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

S. Antonarakis, S. Nikolaev, K. Popadin, 2016, Genome research.

DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

R. Hudson, A. Chakravarti, P. Oettgen, 1988, Human Genetics.

Advances in Human Genetics 1

S. Antonarakis, 1988, Advances in Human Genetics.

The DNA sequence of human chromosome 21.

Y Sakaki, K Kumpf, E Soeda, 2000, Nature.

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.

S. Antonarakis, A. F. Scott, C. Wong, 1989, Genomics.

The DNA sequence of human chromosome 21 The chromosome 21 mapping and sequencing consortium

M. Hattori, Y. Sakaki, S. Antonarakis, 2000 .

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

S. Antonarakis, H. Lehrach, B. Korn, 1998, Genomics.

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

A Gos, M A Morris, A Chakravarti, 1995, American journal of human genetics.

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

P. De Camilli, S. Antonarakis, O. Arancio, 2008, Proceedings of the National Academy of Sciences.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of human genetics.

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

P. Khaitovich, S. Antonarakis, S. Nikolaev, 2008, American journal of human genetics.

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

S. Antonarakis, A. Poretti, P. Makrythanasis, 2017, Neuropediatrics.

Content and Variation of the Human Genome

S. Antonarakis, 2016 .

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

Xavier Estivill, Dean Nizetic, Gareth Denyer, 2008, American journal of human genetics.

Detection of Genomic Variation by Selection of a 9 Mb DNA Region and High Throughput Sequencing

A. Sharp, S. Antonarakis, S. Nikolaev, 2009, PloS one.

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

S. Antonarakis, L. Tranebjaerg, M. Petersen, 1991, American journal of human genetics.

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the β–amyloid precursor protein gene

A. Hofman, M. McInnis, S. Antonarakis, 1992, Nature Genetics.

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

Emmanouil T Dermitzakis, Serge Nef, Lee B. Smith, 2018, Cell reports.

Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker.

A. Chakravarti, S. Antonarakis, S. Slaugenhaupt, 1990, Genomics.

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

C. V. Jongeneel, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, 2002, Nature.

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

S. Antonarakis, B. Morrow, S. Eliez, 2017, Translational Psychiatry.

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

S Eliez, A L Reiss, M A Morris, 2001, Archives of general psychiatry.

Paternal nondisjunction in trisomy 21: excess of male patients.

S. Antonarakis, T. Hassold, M. Petersen, 1993, Human molecular genetics.

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

S. Antonarakis, E. Krüger, V. Zoete, 2020, Human molecular genetics.

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

S. Antonarakis, E. Falconnet, H. Bellen, 2019, American journal of human genetics.

CATCHing putative causative variants in consanguineous families

Stylianos E. Antonarakis, Federico Santoni, Periklis Makrythanasis, 2015, BMC Bioinformatics.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

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

Periklis Makrythanasis, S. Antonarakis, S. Nikolaev, 2014, Genome research.

Binding of PTEN to Specific PDZ Domains Contributes to PTEN Protein Stability and Phosphorylation by Microtubule-associated Serine/Threonine Kinases*

S. Antonarakis, A. Andres-Pons, R. Pulido, 2005, Journal of Biological Chemistry.

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

A. Reymond, S. Antonarakis, D. Picard, 2005, Human molecular genetics.

Genome linkage scanning: systematic or intelligent?

S. Antonarakis, 1994, Nature Genetics.

NANOG priming before full reprogramming may generate germ cell tumours.

J. Kere, S. Antonarakis, M. Zucchelli, 2011, European cells & materials.

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

Alexandre Reymond, Giuseppe Merla, C. Howald, 2004, Human molecular genetics.

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

C. Howald, A. Reymond, S. Antonarakis, 2004, Human Molecular Genetics.

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

S. Antonarakis, N. Shimizu, J. Kudoh, 1998, Molecular endocrinology.

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

J. Schuurs-Hoeijmakers, S. Antonarakis, R. Płoski, 2021, Genetics in Medicine.

Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.

S. Antonarakis, P. Diergaarde, I. Maumenee, 1989, American journal of medical genetics.

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

X. Estivill, S. Antonarakis, T. Meitinger, 2012, European Journal of Human Genetics.

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

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.

S. Antonarakis, R. Lyle, H. Aung, 2005, Proceedings of the National Academy of Sciences of the United States of America.

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

D. Housman, R. Shprintzen, S. Antonarakis, 1994, The Journal of nervous and mental disease.

Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2.

D. Housman, S. Antonarakis, M. Karayiorgou, 1994, American journal of medical genetics.

Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene.

S. Antonarakis, G. Semenza, M. .. Nejfelt, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Recombinant DNA technology in the diagnosis of human genetic disorders.

S. Antonarakis, 1989, Clinical chemistry.

Genetic diseases: diagnosis by restriction endonuclease analysis.

S. Antonarakis, H. Kazazian, J. Phillips, 1982, The Journal of pediatrics.

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

Anuj Srivastava, Anuradha Lakshminarayana, Jay Shendure, 2015, Genome research.

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

S. Antonarakis, J. Luban, V. Sanctis, 2015, Nature.

Cognition and Hippocampal Plasticity in the Mouse Is Altered by Monosomy of a Genomic Region Implicated in Down Syndrome

Stylianos E. Antonarakis, Yann Herault, Mara Dierssen, 2014, Genetics.

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

S. Antonarakis, S. Gimelli, Nelle Lambert, 2018, Journal of Human Genetics.

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

Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, Nikolaos I. Panousis, 2017, Bioinform..

Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II.

S. Antonarakis, D. Meyers, R. Korneluk, 1985, Proceedings of the National Academy of Sciences of the United States of America.

Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): rapid detection of deletions and duplications of gene sequences.

S. Antonarakis, A. Shuldiner, J. Roth, 1994, Genomics.

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

S. Antonarakis, P. Milani, S. Auvin, 2016, American journal of human genetics.

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

J L Blouin, S. Antonarakis, G. Thomas, 1993, American journal of human genetics.

Genomic Imprinting and Uniparental Disomy in Medicine

S. Antonarakis, E. Engel, 2001 .

Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21.

S. Antonarakis, E. Schwinger, M. Petersen, 1992, Genomics.

A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome.

D. J. Driscoll, D. Housman, S. Antonarakis, 1989, Genomics.

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

S. Antonarakis, R. Lyle, S. Gagos, 2008, American journal of medical genetics. Part A.

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

Lee B. Smith, E. Dermitzakis, S. Antonarakis, 2018 .

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain

Vitor Mendes Pereira, Stylianos E. Antonarakis, Taufik Valiante, 2018, The New England journal of medicine.

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

S. Mundlos, S. Antonarakis, B. Niggemann, 2008, Human mutation.

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

S. Antonarakis, S. Nikolaev, V. Zoete, 2016, Nature Genetics.

Regulation of fibrinogen production by microRNAs.

S. Antonarakis, C. Borel, E. Migliavacca, 2010, Blood.

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

Patrick B. F. O'Connor, S. Antonarakis, S. Nikolaev, 2015, BMC Genomics.

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

S. Antonarakis, C. Borel, N. Lin-Marq, 2005, Molecular Genetics and Genomics.

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

S. Antonarakis, U. Radhakrishna, K. Buchet-Poyau, 2002, Cytogenetic and Genome Research.

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

A. Sharp, S. Antonarakis, S. Gimelli, 2010, Human molecular genetics.

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

D. L. Mumme, S. Antonarakis, A. Reiss, 2002, The Journal of pediatrics.

"Compensatory" uniparental disomy of chromosome 21 in two cases.

S. Antonarakis, E. Schwinger, M. Petersen, 1994, Journal of medical genetics.

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

Miguel Armengot, S. Antonarakis, M. Armengot, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Perturbations of Heart Development and Function in Cardiomyocytes from Human Embryonic Stem Cells with Trisomy 21

S. Antonarakis, V. Tohonen, F. Santoni, 2015, Stem cells.

Down Syndrome: From Understanding the Neurobiology to Therapy

Stylianos E. Antonarakis, Yann Herault, Katheleen Gardiner, 2010, The Journal of Neuroscience.

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.

S. Antonarakis, S. Deutsch, S. Nath, 2007, American journal of human genetics.

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

S. Antonarakis, S. Nikolaev, R. Lyle, 2008, Mammalian Genome.

Mouse Models for Down Syndrome-Associated Developmental Cognitive Disabilities

S. Antonarakis, A. Baldini, W. Mobley, 2011, Developmental Neuroscience.

Germ-Line chromosomal localization of genes in chromosome 11p linkage: Parathyroid hormone, β-globin, c-Ha-ras-1, and insulin

W. S. Hayward, S. Antonarakis, S. Jhanwar, 1985, Somatic cell and molecular genetics.

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

A. Sharp, S. Antonarakis, F. Béna, 2012, Journal of Medical Genetics.

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

A. Reymond, S. Antonarakis, R. Lyle, 2003, Gene.

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

U. C. Patel, S. Antonarakis, R. Lyle, 2006, American journal of medical genetics. Part A.

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

P. Silver, S. Antonarakis, C. Rossier, 1998, Genomics.

Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome

Y. Hérault, S. Antonarakis, M. Dierssen, 2021, Frontiers in Immunology.

Protocols to establish genotype-phenotype correlations in Down syndrome.

E. Courchesne, C. Epstein, J. Korenberg, 1991, American journal of human genetics.

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21

S. Antonarakis, M. Petersen, A. Schinzel, 2005, Human Genetics.

Genetic Variability of μ-Opioid Receptor in an Obstetric Population

S. Antonarakis, J. Blouin, R. Landau, 2004 .

The effect of genetic variation on promoter usage and enhancer activity

O. Delaneau, E. Dermitzakis, Piero Carninci, 2017, Nature Communications.

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

S. Antonarakis, C. Stoll, A. Bottani, 1997, American journal of medical genetics.

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

S. Antonarakis, S. Deutsch, S. Nath, 2006, American journal of medical genetics. Part A.

Dodecamer Repeat Expansion in Progressive Myoclonus Epilepsy 1

S. Antonarakis, H. Scott, M. Lalioti, 2006 .

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

S. Antonarakis, E. Falconnet, H. Bellen, 2018, Human molecular genetics.

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

U. C. Patel, S. Antonarakis, S. Husain, 2006, American journal of human genetics.

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

S. Antonarakis, S. Nikolaev, D. Nižetić, 2014, Nature Communications.

Trisomic Phase Inference

Andrew G. Clark, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, 2002, Computational Methods for SNPs and Haplotype Inference.

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

S. Antonarakis, J. Luban, F. Santoni, 2013, Retrovirology.

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

A. Chakravarti, S. Antonarakis, Y. Nakamura, 1997, Genomics.

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

Shinsei Minoshima, Stylianos E. Antonarakis, Kazunori Shibuya, 2001, Nature Genetics.

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

A. Sharp, S. Antonarakis, H. Brunner, 2017 .

Carrier screening for recessive disorders

S. Antonarakis, 2019, Nature Reviews Genetics.

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

A. Reymond, L. Excoffier, S. Antonarakis, 2018, Genome research.

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

S. Antonarakis, S. Gimelli, F. Béna, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

2019 William Allan Award

S. Antonarakis, 2020 .

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

Fumiko Hoeft, Doron Gothelf, S. Antonarakis, 2007, Human brain mapping.

Identification of Sequence Variants and Analysis of the Role of the Catechol-O-Methyl-Transferase Gene in Schizophrenia Susceptibility

D. Housman, S. Antonarakis, M. Karayiorgou, 1998, Biological Psychiatry.

The Autoimmune Regulator Protein Has Transcriptional Transactivating Properties and Interacts with the Common Coactivator CREB-binding Protein*

S. Antonarakis, M. Vihinen, J. Ollila, 2000, The Journal of Biological Chemistry.

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

S. Antonarakis, N. Shimizu, J. Kudoh, 1999, Biochemical and biophysical research communications.

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

S. Antonarakis, N. Shimizu, M. Devoto, 1998, Human Genetics.

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.

X. Estivill, S. Antonarakis, E. Antonarakis, 2000, Genome research.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Colin A. Johnson, S. Antonarakis, N. Matsumoto, 2016, American journal of human genetics.

Mutation analyses of North American APS‐1 patients

Qiaoyi Chen, Pärt Peterson, S. Antonarakis, 1999, Human mutation.

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

S. Antonarakis, H. Scott, C. Brahe, 1998, Genomics.

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

A. Reymond, S. Antonarakis, H. Darvish, 2021, npj Genomic Medicine.

High-Throughput Sequencing and Rare Genetic Diseases

S. Antonarakis, P. Makrythanasis, S. Antonarakis, 2012, Molecular Syndromology.

From sequence to functional understanding: the difficult road ahead

S. Antonarakis, P. Makrythanasis, 2011, Genome Medicine.

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

S. Antonarakis, E. Neidhart, M. Tafti, 2004, Annals of neurology.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

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

A. Reymond, S. Antonarakis, S. Deutsch, 2004, Human Mutation.

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

S Minoshima, S. Antonarakis, N. Shimizu, 2000, Genomics.

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

S. Antonarakis, E. Falconnet, N. Katsanis, 2019, American journal of human genetics.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

S. Antonarakis, J. Hunter, Yaping Yang, 2018, Human mutation.

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.

E. Dermitzakis, R. Rizzoli, S. Antonarakis, 2004, American journal of human genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Rachel L. Taylor, S. Antonarakis, C. Pournaras, 2018, American journal of human genetics.

The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia.

S. Orkin, S. Antonarakis, F. Grosveld, 1983, Blood.

Gene finding in the chicken genome

Eduardo Eyras, Paul Flicek, Stylianos E. Antonarakis, 2005, BMC Bioinformatics.

The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions

S. Antonarakis, 1995, Progress in clinical and biological research.

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

A. Reymond, R. Guigó, L. Excoffier, 2009, Human mutation.

Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome

S. Antonarakis, P. C. Huang, I. Maumenee, 1990, Human Genetics.

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Structure of the human CRFB4 gene: Comparison with its IFNAR neighbor

M. McInnis, S. Antonarakis, G. Lutfalla, 1995, Journal of Molecular Evolution.

Structure of the human CRFB4 gene: Comparison with its IFNAR neighbor

M. McInnis, S. Antonarakis, G. Lutfalla, 2004, Journal of Molecular Evolution.

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

A. Reymond, S. Antonarakis, N. Shimizu, 2002, Human molecular genetics.

The varieties of mutation.

S. Antonarakis, H. Kazazian, 1988, Progress in medical genetics.

Landscape of transcription in human cells

Nadav S. Bar, Pedro G. Ferreira, Morgan C. Giddings, 2012, Nature.

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.

S. Antonarakis, E. Falconnet, C. Borel, 2017, American journal of human genetics.

What is expanded in progressive myoclonus epilepsy?

S. Antonarakis, H. Scott, M. Lalioti, 1997, Nature Genetics.

PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES BY RESTRICTION ANALYSIS: METHODOLOGY AND EXPERIENCE

S. Antonarakis, H. Kazazian, C. Boehm, 1982 .

Tandem repeat sequence variation as causative Cis‐eQTLs for protein‐coding gene expression variation: The case of CSTB

E. Dermitzakis, A. Sharp, S. Antonarakis, 2012, Human mutation.

Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer’s Disease

Geoffrey M. Barrett, S. Antonarakis, F. Schmitt, 2018, Cell reports.

Transcriptional and post-transcriptional profile of human chromosome 21.

C. Ucla, S. Antonarakis, S. Nikolaev, 2009, Genome research.

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.

S. Antonarakis, N. Shimizu, S. Minoshima, 1997, Genome research.

Title : Variation in novel exons ( RACEfrags ) of the MECP 2 gene in Rett syndrome patients and controls

A. Reymond, R. Guigó, L. Excoffier, 2022 .

An alpha satellite DNA polymorphism specific for the centromeric region of chromosome 13.

A. Bowcock, S. Antonarakis, L. Farrer, 1990, Genomics.

Report of the Fourth International Workshop on Human Chromosome 21.

A. Chakravarti, S. Antonarakis, D. Nižetić, 1993, Genomics.

Dinucleotide repeat (GT)n markers on chromosome 21.

M. McInnis, A. Chakravarti, S. Antonarakis, 1992, Genomics.

D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21.

M. McInnis, A. Chakravarti, S. Antonarakis, 1992, Genomics.

Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21.

M. McInnis, A. Chakravarti, S. Antonarakis, 1991, Genomics.

Pvull and Xhol/EcoRV polymorphisms adjacent to the α- A-crystallin (CRYA1) gene on human chromosome 21

S. Antonarakis, M. Petersen, C. Jaworski, 1990 .

Two PstI DNA polymorphisms adjacent to the human gene for the interferon-induced p78 protein (MX1 gene).

S. Antonarakis, M. Petersen, A. C. Warren, 1989, Nucleic acids research.

Construction of human chromosome 21-specific yeast artificial chromosomes.

S. Antonarakis, P. Hieter, Y. Kan, 1989, Proceedings of the National Academy of Sciences of the United States of America.

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.

S. Antonarakis, A. Aguzzi, M. Prinz, 2000, Human molecular genetics.

β-Amyloid gene is not present in three copies in autopsy-validated Alzheimer's disease

D. Price, M. Folstein, S. Antonarakis, 1987 .

Third International Workshop on Human Chromosome 21.

S. Antonarakis, 1992, Genomics.

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

S. Antonarakis, C. Rossier, M. Guipponi, 2001, Human mutation.

Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome

S. Antonarakis, M. Linden, S. Eliez, 2012, Psychiatry Research.

Schizophrenia susceptibility and chromosome 6p24–22

J. Ott, D. Housman, S. Antonarakis, 1995, Nature Genetics.

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).

R. Murray, D. Collier, M. Gill, 1996, American journal of medical genetics.

Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32:

A. Chakravarti, D. Housman, S. Antonarakis, 1996 .

The search for allelic variants that cause monogenic disorders or predispose to common, complex polygenic phenotypes

S. Antonarakis, 2001, Dialogues in clinical neuroscience.

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

S. Antonarakis, C. Rossier, A. Paoloni-Giacobino, 2001, Human Genetics.

Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms.

M. McInnis, S. Antonarakis, C. Ross, 1993, Genomics.

Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome

A. Michelson, S. Orkin, S. Antonarakis, 2004, Human Genetics.

Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus.

D. Housman, S. Antonarakis, M. Karayiorgou, 1996, Cold Spring Harbor symposia on quantitative biology.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families

S. Antonarakis, S. Ellard, R. Truty, 2021, Genetics in Medicine.

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

D. Housman, S. Antonarakis, K. Chandy, 1999, American journal of medical genetics.

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

J. Potash, S. Antonarakis, P. Sklar, 2003, Molecular Psychiatry.

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

D. Housman, S. Antonarakis, M. Karayiorgou, 1996, Cold Spring Harbor symposia on quantitative biology.

myoclonic epilepsy Association of the connexin36 gene with juvenile

J. Villemure, S. Antonarakis, S. Deutsch, 2005 .

Association of the connexin36 gene with juvenile myoclonic epilepsy

M Rees, J. Villemure, S. Antonarakis, 2004, Journal of Medical Genetics.

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

Maria Gutierrez-Arcelus, Stephen B Montgomery, Alisa Yurovsky, 2013, eLife.

A considerable effort is now being directed toward the creation of the transcription ( genic ) map of this chromosome and the cloning and characterization of its genes

A. Chakravarti, S. Antonarakis, C. Rossier, 2007 .

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

S. Antonarakis, C. Bouras, Haiming Chen, 1996, Human Genetics.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

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

S. Antonarakis, B. Conrad, S. Marguerat, 2005, EMBO reports.

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

S. Antonarakis, R. Lyle, H. Scott, 2001, Brain Research Reviews.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.

S. Antonarakis, K. Blakemore, G. Stetten, 1990, Molecular biology & medicine.

Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome

S. Antonarakis, A. Multani, M. Morris, 2007 .

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

R. Ravazzolo, S. Antonarakis, S. Gimelli, 2010, Genetics in Medicine.

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

S. Antonarakis, B. Conrad, M. Barker, 2007, American journal of medical genetics. Part A.

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

R. Ravazzolo, S. Antonarakis, S. Gimelli, 2010, American journal of medical genetics. Part A.

Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype.

S. Antonarakis, C. Williams, M. K. McCormick, 2005, American journal of medical genetics. Supplement.

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications

S. Antonarakis, F. Santoni, J. Meylan, 2021, bioRxiv.

Familial epilepsy in Algeria: Clinical features and inheritance profiles

S. Antonarakis, M. Guipponi, H. Hamamy, 2015, Seizure.

RFLP for the human lipoprotein lipase (LPL) gene: HindIII.

S. Antonarakis, T. Kirchgessner, M. Schotz, 1987, Nucleic acids research.

Carrier screening for recessive disorders

S. Antonarakis, 2019, Nature Reviews Genetics.

Linkage analysis of maturity-onset diabetes of the young (MODY): genetic heterogeneity and nonpenetrance.

S. Antonarakis, D. Bowden, G. Akots, 1992, American journal of human genetics.

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

Jasjit K. Banwait, S. Antonarakis, S. Deutsch, 2012, European Journal of Human Genetics.

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

S. Antonarakis, R. Lyle, J. Sztajzel, 2008, Human mutation.

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

S. Antonarakis, M. Morris, I. Bouchardy, 2007, Brain and Development.

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

S. Antonarakis, A. Gos, M. Morris, 1996, Genomics.

A novel TMPRSS 3 missense mutation in a DFNB 8 / 10 family prevents proteolytic activation of the protein WATTENHOFER

A. Reymond, S. Antonarakis, B. Rossier, 2018 .

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

A. Reymond, S. Antonarakis, B. Rossier, 2005, Human Genetics.

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

S. Antonarakis, R. Lyle, S. Vishnupriya, 2011, Investigative ophthalmology & visual science.

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

S. Antonarakis, I. Maumenee, E. P. Economou, 1992, American journal of medical genetics.

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

S. Antonarakis, A. Gos, M. Morris, 1995, Receptors & channels.

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

Stylianos E. Antonarakis, Xavier Estivill, Torsten Schwede, 2002, Journal of Molecular Medicine.

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

A. Pandya, S. Antonarakis, J. Kudoh, 2001, Journal of medical genetics.

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.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

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.

S. Antonarakis, N. Shimizu, K. Kawasaki, 2000, Genomics.

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

S. Antonarakis, H. Scott, A. Mohyuddin, 2000, Advances in oto-rhino-laryngology.

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

S. Antonarakis, C. Rossier, M. Lalioti, 1996, Genomics.

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.

S. Antonarakis, A. Gos, C. Rossier, 1996, Genomics.

Dinucleotide repeat polymorphism within ERCC5 gene.

A. Chakravarti, S. Antonarakis, D. Scherly, 1994, Human molecular genetics.

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

S. Antonarakis, A. Coppola, E. Falconnet, 2014, Stem cell research.

Hemophilia A due to mutations that create new N-glycosylation sites.

S. Antonarakis, M. Higuchi, C. Kasper, 1992, Proceedings of the National Academy of Sciences of the United States of America.

LRP5 gene polymorphisms and idiopathic osteoporosis in men.

R. Rizzoli, S. Antonarakis, S. Deutsch, 2005, Bone.

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

S. Antonarakis, M. Morris, C. Biron, 2001, Human Genetics.

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

S. Antonarakis, M. Morris, M. Neerman-Arbez, 1999, European Journal of Human Genetics.

Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor β-Subunit Mutations outside the Ion Channel Pore

I. Scheffer, D. Bertrand, S. Antonarakis, 2008, Molecular Pharmacology.

Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia.

S. Antonarakis, M. Morris, M. Neerman-Arbez, 1999, The Journal of clinical investigation.

Consangunity and psychosis in Algeria. A family study

S. Antonarakis, F. Béna, M. Guipponi, 2015, European Psychiatry.

Three decades of the Human Genome Organization

S. Antonarakis, A. Hamosh, Charles Lee, 2021, American journal of medical genetics. Part A.

800 ANAIXSIS OF DNA HAPLOTYPES SUGGESTS A GENETIC PREDISPOSITION TO TRISOMY 21 ASSOCIATED WITH DNA SEQUENCES ON CHROMOSOME 21

S. Antonarakis, H. Kazazian, S. Kittur, 1985, Pediatric Research.

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

J. Lupski, R. Gibbs, D. Muzny, 2023, HGG advances.

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

S. Antonarakis, M. Morris, C. Attanasio, 2001, Blood.

SCN8A heterozygous variants are associated with anoxic‐epileptic seizures

S. Antonarakis, C. Korff, W. Z'Graggen, 2020, American journal of medical genetics. Part A.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

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

D. Misceo, S. Antonarakis, S. Riazuddin, 2018, Genetics in Medicine.

Intra- and inter-chromosomal chromatin interactions mediate genetic effects on regulatory networks

O. Delaneau, C. Howald, A. Reymond, 2017, bioRxiv.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

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

Steven A. Brown, C. Howald, E. Dermitzakis, 2017, eLife.

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

S. Antonarakis, C. Feinstein, S. Eliez, 2000, European Child & Adolescent Psychiatry.

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

S. Antonarakis, P. Makrythanasis, H. Hamamy, 2014, Human mutation.

Etiology and Pathogenesis of Down Syndrome

S. Antonarakis, 1997 .

PvuII and XhoI/EcoRV polymorphisms adjacent to the alpha A-crystallin (CRYA1) gene on human chromosome 21.

S. Antonarakis, M. Petersen, J. Lewis, 1990, Nucleic acids research.

Mind the GAP, Rho, Rab and GDI

S. Antonarakis, L. Aelst, 1998, Nature Genetics.

The human sugar-phosphate/phosphate exchanger family SLC37

S. Antonarakis, L. Bartoloni, 2004, Pflügers Archiv.

A molecular genetic approach to amyotrophic lateral sclerosis.

M. Pericak-Vance, M. McInnis, S. Antonarakis, 1991, International journal of neurology.

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

L. Personnaz, J. Rossier, C. Epstein, 2005, Human molecular genetics.

CpG Dinucleotides and Human Disorders

S. Antonarakis, 2006 .

Origin of the /3-globin gene in Blacks mutation or gene conversion or both (haplotypes/hemoglobinopathies/sickle cell anemia/DNA polymorphis

S. Antonarakis, H. Kazazian, C. Boehm, 2016 .

Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2.

S. Antonarakis, G. Cutting, L. Kasch, 1990, Genomics.

DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I.

S. Antonarakis, T. Cohen, S. Karathanasis, 1986, Nucleic acids research.

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

S. Antonarakis, J. Blouin, R. Landau, 2005, Clinical pharmacology and therapeutics.

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

A. Reymond, S. Antonarakis, H. Darvish, 2021, npj Genomic Medicine.

Gene structure and chromosomal localization of the human P2X7 receptor.

S. Antonarakis, A. Gos, M. Morris, 1998, Receptors & channels.

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

A. Munnich, S. Antonarakis, N. Katsanis, 2007, Human mutation.

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

S. Antonarakis, N. Shimizu, J. Kudoh, 2000, Genomics.

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

S. Antonarakis, P. Hutter, M. Morris, 1994, Human molecular genetics.

Two polymorphisms for the human hepatic lipase (HL) gene.

S. Antonarakis, M. Schotz, A. J. Lusis, 1988, Nucleic acids research.

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

S. Antonarakis, C. Korff, M. Pittet, 2017, American journal of medical genetics. Part A.

Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells

Evan G. Williams, R. Aebersold, S. Antonarakis, 2017, Nature Communications.

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))

S. Antonarakis, H. Kazazian, A. Wacey, 1996 .

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

Stylianos E. Antonarakis, Rainer Schwaab, Adam I. Wacey, 1996, Nucleic Acids Res..

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

M. Hattori, Y. Sakaki, S. Antonarakis, 1999, Cytogenetic and Genome Research.

A Systematic Enhancer Screen Using Lentivector Transgenesis Identifies Conserved and Non-Conserved Functional Elements at the Olig1 and Olig2 Locus

S. Antonarakis, D. Duboule, D. Robyr, 2010, PloS one.

A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig 1 and Olig 2 locus FRIEDLI

S. Antonarakis, D. Duboule, D. Robyr, 2017 .

Molecular EtioBo Hemophilia A of Factor WII Deficien

S. Antonarakis, H. Kazazian, E. Tuddenham, 2005 .

Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene.

S. Antonarakis, H. Kazazian, G. Cutting, 1988, Molecular biology & medicine.

The vanishing twin: An explanation for discordance between chorionic villus karyotype and fetal phenotype

S. Antonarakis, K. Blakemore, M. Petersen, 1991, Prenatal diagnosis.

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

S. Antonarakis, P. Hutter, R. Scott, 1996, Journal of medical genetics.

Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes.

J. Ott, D. Housman, S. Antonarakis, 1995, American journal of medical genetics.

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

M C Peitsch, M Mirotsou, M. Peitsch, 1997, American journal of human genetics.

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

N. Guex, S. Antonarakis, C. Rossier, 1998, American journal of human genetics.

A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM.

M G McInnis, T C Matise, A Chakravarti, 1993, Genomics.

DNA polymorphism analysis in families with recurrence of free trisomy 21.

S. Antonarakis, C. Talbot, M. Rethoré, 1992, American journal of human genetics.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham, S. Antonarakis, D. Cooper, 1994, Nucleic acids research.

Contributors and Participants

D. Cox, A. Kong, N. Mendell, 1982 .

Explorer A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Charlotte N. Henrichsen, A. Reymond, A. Ballabio, 2016 .

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

S. Antonarakis, Haiming Chen, 1997, Human Genetics.

A novel zinc finger cDNA with a polymorphic pentanucleotide repeat (ATTTT)n maps on human chromosome 19p.

S. Antonarakis, D. Avramopoulos, A. C. Warren, 1993, Genomics.

and Marguerite T → IVS 4 ? + ? 1 G FGA afibrinogenemia mutation , Activation of multiple cryptic donor splice sites by the common congenital

S. Antonarakis, M. Morris, Neerman-Arbez Catia Attanasio, 2001 .

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

S. Antonarakis, C. Pournaras, C. Rivolta, 2019, Human molecular genetics.

Pathogenic variants in non‐protein‐coding sequences

S. Antonarakis, P. Makrythanasis, S. Antonarakis, 2013, Clinical genetics.

BglII polymorphic site downstream to the human apolipoprotein AIV (apoAIV) gene.

P. Oettgen, S. Antonarakis, S. Karathanasis, 1986, Nucleic Acids Research.

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

C. Howald, A. Reymond, S. Antonarakis, 2005, Journal of Medical Genetics.

Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man.

S. Antonarakis, A. Ullrich, E. Fearon, 1983, Proceedings of the National Academy of Sciences of the United States of America.

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.

S. Antonarakis, C. Buresi, A. Malafosse, 1998, American journal of human genetics.

Hemophilia A persistence and gene mutational vulnerability.

S. Antonarakis, 1987, Hospital practice.

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.

U. C. Patel, K. Grzeschik, S. Antonarakis, 1999, American journal of human genetics.

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

S. Antonarakis, C. Rossier, M. Morris, 1995, Genomics.

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

A. Reymond, S. Antonarakis, T. Vellai, 2004, Genomics.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

BDNF and DYRK1A Are Variable and Inversely Correlated in Lymphoblastoid Cell Lines from Down Syndrome Patients

A. Hoischen, S. Antonarakis, B. Menten, 2012, Molecular Neurobiology.

c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p.

S. Antonarakis, E. Fearon, D. Meyers, 1984, American journal of human genetics.

Genetic analysis workshop IV: The 11p data sets

T. Beaty, S. Antonarakis, H. Kazazian, 1986, Genetic epidemiology. Supplement.

Early-onset dementias: clinical, neuropathological and genetic characteristics

P. Hof, S. Antonarakis, C. Bouras, 1996, Acta Neuropathologica.

Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells

Jonathan M. Mudge, J. Harrow, A. Frankish, 2012, PloS one.

Discussion on mutation nomenclature

S. Antonarakis, V. McKusick, H. Kazazian, 1994, Human mutation.

Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

S. Antonarakis, D. Cooper, H. Kazazian, 1991 .

Use of DNA Polymorphisms to Establish the Linkage Map of the Pth, Beta-Globin, C-Ha-Ras-1, and Insulin Loci on 11p

M. Wigler, S. Antonarakis, A. Ullrich, 1984 .

Chromosome Conformation Capture Uncovers Potential Genome-Wide Interactions between Human Conserved Non-Coding Sequences

Stylianos E. Antonarakis, Laurent Farinelli, Sonia Verp, 2011, PloS one.

beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

S. Orkin, S. Antonarakis, C. Boehm, 1983, American journal of human genetics.

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

S. Antonarakis, J. Blouin, S. Fokstuen, 2002, American journal of medical genetics. Part A.

Abnormal processing of beta Knossos RNA.

S. Orkin, S. Antonarakis, D. Loukopoulos, 1984, Blood.

Multiplex targeted high‐throughput sequencing for Mendelian cardiac disorders

S. Antonarakis, S. Nikolaev, L. Farinelli, 2014, Clinical genetics.

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

S. Antonarakis, P. Hutter, G. Perrin, 1996, Human mutation.

Phylogeny of human beta-globin haplotypes and its implications for recent human evolution.

A. Chakravarti, J. Long, S. Antonarakis, 1990, American journal of physical anthropology.

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

S. Scherer, L. Tsui, S. Antonarakis, 1998, Human Genetics.

“Old” and “New” Syndromes with Uniparental Disomy

S. Antonarakis, E. Engel, 2002 .

BACking up the promises

S. Antonarakis, 2001, Nature Genetics.

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

S. Antonarakis, H. Herken, C. Gehrig, 2001, European Journal of Human Genetics.

Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing

A. D. Meglio, L. Hood, T. Bourgeron, 2017 .

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

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

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

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

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

S. Antonarakis, M. Armengot, C. Gehrig, 1999, European Journal of Human Genetics.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Reece K. Hart, D. Maglott, S. Antonarakis, 2016, Human mutation.

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

S. Antonarakis, S. Gimelli, F. Béna, 2014, Human mutation.

Structured RNAs in the ENCODE selected regions of the human genome.

M. Gerstein, Andrea Tanzer, A. Reymond, 2007, Genome research.

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

S. Antonarakis, A. Coppola, E. Falconnet, 2014, Stem cell research.

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

S. Antonarakis, S. Nikolaev, D. Robyr, 2012, Cancer research.

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.

S. Antonarakis, E. Falconnet, C. Borel, 2017, American journal of human genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Evidence for transcript networks composed of chimeric RNAs in human cells

Jonathan M. Mudge, J. Harrow, A. Frankish, 2017 .

Functional genetic variation of human miRNAs and phenotypic consequences

S. Antonarakis, C. Borel, 2008, Mammalian Genome.

Genetic and epigenetic regulation of human lincRNA gene expression.

E. Dermitzakis, S. Antonarakis, M. Gutierrez-Arcelus, 2013, American journal of human genetics.

Novel class of human RNAs associated with gene termini suggests an uncharacterized RNA copying mechanism

P. Kapranov, S. Foissac, S. Antonarakis, 2022 .

Reduced recombination rate on chromosomes 21 that have undergone nondisjunction.

A. Chakravarti, S. Antonarakis, S. Slaugenhaupt, 1986, Cold Spring Harbor symposia on quantitative biology.

Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene.

S. Antonarakis, H. Kazazian, C. Boehm, 1986, Cold Spring Harbor symposia on quantitative biology.

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

S. Antonarakis, A. Bermejo-Fenoll, J. Blouin, 1997, American journal of human genetics.

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.

S. Antonarakis, H. Kazazian, L. Kasch, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Mouse Models for Down Syndrome-Associated Developmental Cognitive Disabilities

S. Antonarakis, A. Baldini, W. Mobley, 2011, Developmental Neuroscience.

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

S. Antonarakis, C. Jefford, S. Gagos, 2008, Cancer research.

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

S. Antonarakis, M. Higuchi, H. Scott, 1997, Human Genetics.

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.

N. Guex, A. Reymond, S. Antonarakis, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

A. Reymond, E. Dermitzakis, C. Ucla, 2005, PLoS genetics.

Regulation of fibrinogen production by microRNAs.

S. Antonarakis, C. Borel, E. Migliavacca, 2010, Blood.

A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

S. Antonarakis, P. Makrythanasis, H. Hamamy, 2014, Human mutation.

Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas.

U. Surti, A. Chakravarti, S. Antonarakis, 1989, Progress in clinical and biological research.

PvuII polymorphic site upstream to the human ApoCIII gene

Stylianos E. Antonarakis, P. Oettgen, S. K. Karathanasis, 1986, Nucleic Acids Res..

Perturbations of Heart Development and Function in Cardiomyocytes from Human Embryonic Stem Cells with Trisomy 21

S. Antonarakis, V. Tohonen, F. Santoni, 2015, Stem cells.

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

Marco Emilio Poleggi, S. Antonarakis, S. Gimelli, 2016, Human Genomics.

Galanin pathogenic mutations in temporal lobe epilepsy.

S. Antonarakis, P. Ryvlin, A. Crespel, 2015, Human molecular genetics.

Next generation diagnostics on cardiomyopathy

S. Antonarakis, F. Santoni, P. Makrythanasis, 2014, Molecular Cytogenetics.