Stylianos Antonarakis - Publications

Affiliations: 
Pediatrics Johns Hopkins University School of Medicine, Baltimore, MD, United States 

458 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, ... ... Antonarakis SE, et al. De novo coding variants in the gene cause a neurodevelopmental disorder with intellectual disability. Journal of Medical Genetics. PMID 34930816 DOI: 10.1136/jmedgenet-2021-107751  1
2021 Illouz T, Biragyn A, Frenkel-Morgenstern M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores-Aguilar L, Dierssen M, De Toma I, Lifshitz H, Antonarakis SE, Yu E, Herault Y, et al. Correction to: Specific Susceptibility to COVID-19 in Adults with Down Syndrome. Neuromolecular Medicine. PMID 34797469 DOI: 10.1007/s12017-021-08695-7  1
2021 Mattioli F, Darvish H, Paracha SA, Tafakhori A, Firouzabadi SG, Chapi M, Baig HMA, Reymond A, Antonarakis SE, Ansar M. Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder. Npj Genomic Medicine. 6: 94. PMID 34764295 DOI: 10.1038/s41525-021-00255-z  1
2021 Lee C, Antonarakis SE, Hamosh A, Burn J. Three decades of the Human Genome Organization. American Journal of Medical Genetics. Part A. PMID 34581472 DOI: 10.1002/ajmg.a.62512  0.01
2021 Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, et al. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34522029 DOI: 10.1038/s41436-021-01306-7  1
2021 Illouz T, Biragyn A, Iulita MF, Flores-Aguilar L, Dierssen M, De Toma I, Antonarakis SE, Yu E, Herault Y, Potier MC, Botté A, Roper R, Sredni B, London J, Mobley W, et al. Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome. Frontiers in Immunology. 12: 621440. PMID 34248930 DOI: 10.3389/fimmu.2021.621440  0.01
2021 Illouz T, Biragyn A, Iulita MF, Flores-Aguilar L, Dierssen M, De Toma I, Antonarakis SE, Yu E, Herault Y, Potier MC, Botté A, Roper R, Sredni B, London J, Mobley W, et al. Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome. Frontiers in Immunology. 12: 621440. PMID 34248930 DOI: 10.3389/fimmu.2021.621440  1
2021 Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, et al. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34163037 DOI: 10.1038/s41436-021-01232-8  1
2021 Antonarakis SE. History of the methodology of disease gene identification. American Journal of Medical Genetics. Part A. PMID 34159713 DOI: 10.1002/ajmg.a.62400  0.01
2021 Antonarakis SE. History of the methodology of disease gene identification. American Journal of Medical Genetics. Part A. PMID 34159713 DOI: 10.1002/ajmg.a.62400  0.01
2021 Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, ... ... Antonarakis SE, et al. PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34113002 DOI: 10.1038/s41436-021-01215-9  1
2021 Illouz T, Biragyn A, Frenkel-Morgenstern M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores-Aguilar L, Dierssen M, De Toma I, Lifshitz H, Antonarakis SE, Yu E, Herault Y, et al. Correction to: Specific Susceptibility to COVID-19 in Adults with Down Syndrome. Neuromolecular Medicine. PMID 33948879 DOI: 10.1007/s12017-021-08657-z  1
2021 Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, ... ... Antonarakis SE, et al. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33824500 DOI: 10.1038/s41436-021-01133-w  1
2021 Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2. Human Molecular Genetics. PMID 33693784 DOI: 10.1093/hmg/ddab026  1
2021 Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2. Human Molecular Genetics. PMID 33693784 DOI: 10.1093/hmg/ddab026  1
2021 Illouz T, Biragyn A, Frenkel-Morgenstern M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores-Aguilar L, Del Mar Dierssen Sotos M, De Toma I, Lifshitz H, Antonarakis SE, Yu E, Herault Y, et al. Specific Susceptibility to COVID-19 in Adults with Down Syndrome. Neuromolecular Medicine. PMID 33660221 DOI: 10.1007/s12017-021-08651-5  1
2021 Illouz T, Biragyn A, Frenkel-Morgenstern M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores-Aguilar L, Del Mar Dierssen Sotos M, De Toma I, Lifshitz H, Antonarakis SE, Yu E, Herault Y, et al. Specific Susceptibility to COVID-19 in Adults with Down Syndrome. Neuromolecular Medicine. PMID 33660221 DOI: 10.1007/s12017-021-08651-5  1
2021 Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, ... ... Antonarakis SE, et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics. PMID 33434492 DOI: 10.1016/j.ajhg.2020.12.014  1
2021 Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, ... ... Antonarakis SE, et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American Journal of Human Genetics. PMID 33434492 DOI: 10.1016/j.ajhg.2020.12.014  1
2020 Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brösse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, ... ... Antonarakis SE, et al. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human Mutation. PMID 33131106 DOI: 10.1002/humu.24130  1
2020 Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brösse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, ... ... Antonarakis SE, et al. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human Mutation. PMID 33131106 DOI: 10.1002/humu.24130  1
2020 Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, et al. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. American Journal of Human Genetics. PMID 32822602 DOI: 10.1016/J.Ajhg.2020.08.002  1
2020 Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, et al. De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. American Journal of Human Genetics. PMID 32822602 DOI: 10.1016/J.Ajhg.2020.08.002  1
2020 Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, ... ... Antonarakis SE, et al. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics. PMID 32738225 DOI: 10.1016/J.Ajhg.2020.06.016  1
2020 Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, ... ... Antonarakis SE, et al. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics. PMID 32738225 DOI: 10.1016/J.Ajhg.2020.06.016  1
2020 Antonarakis SE. Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy. European Journal of Human Genetics : Ejhg. 28: 1479-1480. PMID 32572200 DOI: 10.1038/s41431-020-0671-3  0.01
2020 Antonarakis SE. Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy. European Journal of Human Genetics : Ejhg. 28: 1479-1480. PMID 32572200 DOI: 10.1038/s41431-020-0671-3  0.01
2020 Taylor MR, Martin EA, Sinnen B, Trilokekar R, Ranza E, Antonarakis SE, Williams ME. Kirrel3-mediated synapse formation is attenuated by disease-associated missense variants. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 32503885 DOI: 10.1523/JNEUROSCI.3058-19.2020  1
2020 Raftopoulou C, Roumelioti FM, Dragona E, Gimelli S, Sloan-Béna F, Gorgoulis V, Antonarakis SE, Gagos S. Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes. Cancers. 12. PMID 32150835 DOI: 10.3390/cancers12030591  0.01
2020 Raftopoulou C, Roumelioti FM, Dragona E, Gimelli S, Sloan-Béna F, Gorgoulis V, Antonarakis SE, Gagos S. Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes. Cancers. 12. PMID 32150835 DOI: 10.3390/cancers12030591  1
2020 Ansar M, Ebstein F, Özkoç H, Paracha SA, Iwaszkiewicz J, Gesemann M, Zoete V, Ranza E, Santoni FA, Sarwar MT, Ahmed J, Krüger E, Bachmann-Gagescu R, Antonarakis SE. Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Human Molecular Genetics. PMID 32129449 DOI: 10.1093/hmg/ddaa032  1
2020 Ranza E, Z'Graggen W, Lidgren M, Beghetti M, Guipponi M, Antonarakis SE, Absoud M, Goyal S, Pal DK, Korff CM. SCN8A heterozygous variants are associated with anoxic-epileptic seizures. American Journal of Medical Genetics. Part A. PMID 32040247 DOI: 10.1002/ajmg.a.61513  1
2020 Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Down syndrome. Nature Reviews. Disease Primers. 6: 9. PMID 32029743 DOI: 10.1038/s41572-019-0143-7  0.01
2020 Antonarakis SE, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH. Down syndrome. Nature Reviews. Disease Primers. 6: 9. PMID 32029743 DOI: 10.1038/s41572-019-0143-7  0.01
2019 Ansar M, Ranza E, Shetty M, Paracha SA, Azam M, Kern I, Iwaszkiewicz J, Farooq O, Pournaras CJ, Malcles A, Kecik M, Rivolta C, Muzaffar W, Qurban A, Ali L, ... ... Antonarakis SE, et al. Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. Human Molecular Genetics. PMID 31903486 DOI: 10.1093/hmg/ddz303  1
2019 Ansar M, Ranza E, Shetty M, Paracha SA, Azam M, Kern I, Iwaszkiewicz J, Farooq O, Pournaras CJ, Malcles A, Kecik M, Rivolta C, Muzaffar W, Qurban A, Ali L, ... ... Antonarakis SE, et al. Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. Human Molecular Genetics. PMID 31903486 DOI: 10.1093/hmg/ddz303  1
2019 Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, ... ... Antonarakis SE, et al. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. American Journal of Human Genetics. PMID 31607425 DOI: 10.1016/J.Ajhg.2019.09.013  1
2019 Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, ... ... Antonarakis SE, et al. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. American Journal of Human Genetics. PMID 31607425 DOI: 10.1016/J.Ajhg.2019.09.013  1
2019 Stamoulis G, Garieri M, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Sloan-Béna F, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE. Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance. Nature Communications. 10: 4495. PMID 31582743 DOI: 10.1038/s41467-019-12273-8  1
2019 Stamoulis G, Garieri M, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Sloan-Béna F, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE. Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance. Nature Communications. 10: 4495. PMID 31582743 DOI: 10.1038/s41467-019-12273-8  1
2019 Antonarakis SE. Carrier screening for recessive disorders. Nature Reviews. Genetics. 20: 549-561. PMID 31142809 DOI: 10.1038/s41576-019-0134-2  0.01
2019 Antonarakis SE. Carrier screening for recessive disorders. Nature Reviews. Genetics. 20: 549-561. PMID 31142809 DOI: 10.1038/s41576-019-0134-2  0.01
2019 Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, ... ... Antonarakis SE, et al. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. American Journal of Human Genetics. PMID 31079899 DOI: 10.1016/j.ajhg.2019.04.002  1
2019 Delaneau O, Zazhytska M, Borel C, Giannuzzi G, Rey G, Howald C, Kumar S, Ongen H, Popadin K, Marbach D, Ambrosini G, Bielser D, Hacker D, Romano L, Ribaux P, ... ... Antonarakis SE, et al. Chromatin three-dimensional interactions mediate genetic effects on gene expression. Science (New York, N.Y.). 364. PMID 31048460 DOI: 10.1126/Science.Aat8266  1
2019 Liu Y, Mi Y, Mueller T, Kreibich S, Williams EG, Van Drogen A, Borel C, Frank M, Germain PL, Bludau I, Mehnert M, Seifert M, Emmenlauer M, Sorg I, Bezrukov F, ... ... Antonarakis SE, et al. Multi-omic measurements of heterogeneity in HeLa cells across laboratories. Nature Biotechnology. PMID 30778230 DOI: 10.1038/S41587-019-0037-Y  1
2018 Rehman AU, Najafi M, Kambouris M, Gazali LA, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, ... ... Antonarakis SE, et al. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Human Mutation. PMID 30520571 DOI: 10.1002/humu.23694  1
2018 Garieri M, Stamoulis G, Blanc X, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE. Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts. Proceedings of the National Academy of Sciences of the United States of America. 115: 13015-13020. PMID 30510006 DOI: 10.1073/pnas.1806811115  0.01
2018 Garieri M, Stamoulis G, Blanc X, Falconnet E, Ribaux P, Borel C, Santoni F, Antonarakis SE. Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts. Proceedings of the National Academy of Sciences of the United States of America. 115: 13015-13020. PMID 30510006 DOI: 10.1073/pnas.1806811115  1
2018 Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, ... ... Antonarakis SE, et al. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. Human Molecular Genetics. PMID 30481285 DOI: 10.1093/hmg/ddy406  1
2018 Ansar M, Chung HL, Taylor RL, Nazir A, Imtiaz S, Sarwar MT, Manousopoulou A, Makrythanasis P, Saeed S, Falconnet E, Guipponi M, Pournaras CJ, Ansari MA, Ranza E, Santoni FA, ... ... Antonarakis SE, et al. Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. American Journal of Human Genetics. 103: 568-578. PMID 30290152 DOI: 10.1016/j.ajhg.2018.09.004  1
2018 Miranda AM, Herman M, Cheng R, Nahmani E, Barrett G, Micevska E, Fontaine G, Potier MC, Head E, Schmitt FA, Lott IT, Jiménez-Velázquez IZ, Antonarakis SE, Di Paolo G, Lee JH, et al. Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease. Cell Reports. 23: 2967-2975. PMID 29874583 DOI: 10.1016/J.Celrep.2018.05.011  0.01
2018 Ansar M, Chung H, Waryah YM, Makrythanasis P, Falconnet E, Rao AR, Guipponi M, Narsani AK, Fingerhut R, Santoni FA, Ranza E, Waryah AM, Bellen HJ, Antonarakis SE. Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. Human Molecular Genetics. PMID 29771303 DOI: 10.1093/hmg/ddy180  1
2018 Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A. Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. Journal of Human Genetics. PMID 29717186 DOI: 10.1038/s10038-018-0459-2  1
2018 Stévant I, Neirijnck Y, Borel C, Escoffier J, Smith LB, Antonarakis SE, Dermitzakis ET, Nef S. Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing. Cell Reports. 22: 1589-1599. PMID 29425512 DOI: 10.1016/j.celrep.2018.01.043  1
2018 Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, ... ... Antonarakis SE, et al. Biallelic variants in KIF14 cause intellectual disability with microcephaly. European Journal of Human Genetics : Ejhg. PMID 29343805 DOI: 10.1038/S41431-017-0088-9  1
2018 Nikolaev SI, Vetiska S, Bonilla X, Boudreau E, Jauhiainen S, Rezai Jahromi B, Khyzha N, DiStefano PV, Suutarinen S, Kiehl TR, Mendes Pereira V, Herman AM, Krings T, Andrade-Barazarte H, Tung T, ... ... Antonarakis SE, et al. Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain. The New England Journal of Medicine. PMID 29298116 DOI: 10.1056/Nejmoa1709449  1
2018 Popadin K, Peischl S, Garieri M, Sailani MR, Letourneau A, Santoni F, Lukowski SW, Bazykin GA, Nikolaev S, Meyer D, Excoffier L, Reymond A, Antonarakis SE. Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection. Genome Research. 28: 1-10. PMID 29237728 DOI: 10.1101/Gr.228411.117  1
2017 Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S. Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. Neuropediatrics. PMID 29284168 DOI: 10.1055/s-0037-1613681  1
2017 Garieri M, Delaneau O, Santoni F, Fish RJ, Mull D, Carninci P, Dermitzakis ET, Antonarakis SE, Fort A. The effect of genetic variation on promoter usage and enhancer activity. Nature Communications. 8: 1358. PMID 29116076 DOI: 10.1038/S41467-017-01467-7  1
2017 Liu Y, Borel C, Li L, Müller T, Williams EG, Germain PL, Buljan M, Sajic T, Boersema PJ, Shao W, Faini M, Testa G, Beyer A, Antonarakis SE, Aebersold R. Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells. Nature Communications. 8: 1212. PMID 29089484 DOI: 10.1038/S41467-017-01422-6  1
2017 Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, ... ... Antonarakis SE, et al. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation. Cardiovascular Genetics. 10. PMID 29025761 DOI: 10.1161/Circgenetics.116.001690  0.01
2017 Gaspar L, Howald C, Popadin K, Maier B, Mauvoisin D, Moriggi E, Gutierrez-Arcelus M, Falconnet E, Borel C, Kunz D, Kramer A, Gachon F, Dermitzakis ET, Antonarakis SE, Brown SA. The genomic landscape of human cellular circadian variation points to a novel role for the signalosome. Elife. 6. PMID 28869038 DOI: 10.7554/Elife.24994  1
2017 Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, ... ... Antonarakis SE, et al. Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28837161 DOI: 10.1038/gim.2017.113  1
2017 Maria A, Chetan GK, Sibin MK, Mckee T, Merkler D, Narasinga RK, Ribaux P, Blouin JL, Makrythanasis P, Seplyarskiy VB, Antonarakis SE, Nikolaev SI. Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors. The Journal of Pathology. PMID 28805995 DOI: 10.1002/path.4957  1
2017 Ranza E, Garcia-Tarodo S, Varvagiannis K, Guipponi M, Lobrinus JA, Bottani A, Kern I, Kurian M, Pittet MP, Antonarakis SE, Fluss J, Korff CM. SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy. American Journal of Medical Genetics. Part A. PMID 28631894 DOI: 10.1002/ajmg.a.38317  1
2017 Antonarakis SE. Genomic databases: A WHO affair. Science (New York, N.Y.). 356: 812-813. PMID 28546180 DOI: 10.1126/science.aan4717  0.01
2017 Antonarakis SE. Genomic databases: A WHO affair. Science (New York, N.Y.). 356: 812-813. PMID 28546180 DOI: 10.1126/science.aan4717  0.01
2017 Guipponi M, Santoni F, Schneider M, Gehrig C, Bustillo XB, Kates WR, Morrow B, Armando M, Vicari S, Sloan-Béna F, Gagnebin M, Shashi V, Hooper SR, Eliez S, Antonarakis SE. No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients. Translational Psychiatry. 7: e1039. PMID 28221368 DOI: 10.1038/tp.2016.258  1
2017 Santoni FA, Stamoulis G, Garieri M, Falconnet E, Ribaux P, Borel C, Antonarakis SE. Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression. American Journal of Human Genetics. 100: 444-453. PMID 28190458 DOI: 10.1016/j.ajhg.2017.01.028  0.01
2017 Santoni FA, Stamoulis G, Garieri M, Falconnet E, Ribaux P, Borel C, Antonarakis SE. Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression. American Journal of Human Genetics. 100: 444-453. PMID 28190458 DOI: 10.1016/j.ajhg.2017.01.028  1
2017 Fort A, Panousis NI, Garieri M, Antonarakis SE, Lappalainen T, Dermitzakis ET, Delaneau O. MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay data sets. Bioinformatics (Oxford, England). PMID 28186259 DOI: 10.1093/Bioinformatics/Btx074  1
2017 Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, ... ... Antonarakis SE, et al. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications. 8: 14279. PMID 28176794 DOI: 10.1038/Ncomms14279  1
2017 Antonarakis SE. Down syndrome and the complexity of genome dosage imbalance. Nature Reviews. Genetics. 18: 147-163. PMID 28029161 DOI: 10.1038/nrg.2016.154  0.01
2017 Antonarakis SE. Down syndrome and the complexity of genome dosage imbalance. Nature Reviews. Genetics. 18: 147-163. PMID 28029161 DOI: 10.1038/nrg.2016.154  0.01
2017 Gaspar L, Howald C, Popadin K, Maier B, Mauvoisin D, Moriggi E, Gutierrez-Arcelus M, Falconnet E, Borel C, Kunz D, Kramer A, Gachon F, Dermitzakis ET, Antonarakis SE, Brown SA. Author response: The genomic landscape of human cellular circadian variation points to a novel role for the signalosome Elife. DOI: 10.7554/Elife.24994.028  1
2016 Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, et al. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. American Journal of Human Genetics. PMID 27889060 DOI: 10.1016/J.Ajhg.2016.10.009  1
2016 Chen L, Ge B, Casale FP, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yan Y, Kundu K, Ecker S, Datta A, Richardson D, Burden F, Mead D, Mann AL, ... ... Antonarakis SE, et al. Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Cell. 167: 1398-1414.e24. PMID 27863251 DOI: 10.1016/J.Cell.2016.10.026  1
2016 Chen L, Ge B, Casale FP, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yan Y, Kundu K, Ecker S, Datta A, Richardson D, Burden F, Mead D, Mann AL, ... ... Antonarakis SE, et al. Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells. Cell. 167: 1398-1414.e24. PMID 27863251 DOI: 10.1016/J.Cell.2016.10.026  1
2016 Ferreira PG, Oti M, Barann M, Wieland T, Ezquina S, Friedländer MR, Rivas MA, Esteve-Codina A, Rosenstiel P, Strom TM, Lappalainen T, Guigó R, Sammeth M. Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing. Scientific Reports. 6: 32406. PMID 27617755 DOI: 10.1038/Srep32406  1
2016 Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, et al. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. American Journal of Human Genetics. PMID 27569549 DOI: 10.1016/J.Ajhg.2016.06.032  1
2016 Makrythanasis P, Guipponi M, Santoni FA, Zaki M, Issa MY, Ansar M, Hamamy H, Antonarakis SE. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree. Human Genomics. 10: 26. PMID 27421267 DOI: 10.1186/s40246-016-0082-2  0.01
2016 Makrythanasis P, Guipponi M, Santoni FA, Zaki M, Issa MY, Ansar M, Hamamy H, Antonarakis SE. Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree. Human Genomics. 10: 26. PMID 27421267 DOI: 10.1186/s40246-016-0082-2  1
2016 Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, ... ... Antonarakis SE, ... ... Antonarakis S, et al. Human genome meeting 2016: Houston, TX, USA. 28 February - 2 March 2016 Human Genomics. 10: 12-12. PMID 27294413 DOI: 10.1186/S40246-016-0063-5  1
2016 Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, ... ... Antonarakis SE, et al. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics. PMID 26996948 DOI: 10.1016/j.ajhg.2016.02.007  1
2016 Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Chaabene RB, Santoni FA, ... ... Antonarakis SE, et al. Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. Nature Genetics. 48: 398-406. PMID 26950094 DOI: 10.1038/Ng.3525  1
2016 den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Human Mutation. PMID 26931183 DOI: 10.1002/humu.22981  1
2016 Seplyarskiy VB, Soldatov RA, Popadin KY, Antonarakis SE, Bazykin GA, Nikolaev SI. APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication. Genome Research. 26: 174-82. PMID 26755635 DOI: 10.1101/gr.197046.115  0.01
2016 Seplyarskiy VB, Soldatov RA, Popadin KY, Antonarakis SE, Bazykin GA, Nikolaev SI. APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication. Genome Research. 26: 174-82. PMID 26755635 DOI: 10.1101/gr.197046.115  1
2015 Letourneau A, Santoni FA, Bonilla X, Reza Sailani M, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, ... ... Antonarakis SE, et al. Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature. PMID 26633627 DOI: 10.1038/Nature16135  1
2015 Nicastro N, Ranza E, Antonarakis SE, Horvath J. Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation. Cerebellum (London, England). PMID 26607151 DOI: 10.1007/s12311-015-0749-6  1
2015 Dieudonné FX, O'Connor PB, Gubler-Jaquier P, Yasrebi H, Conne B, Nikolaev S, Antonarakis S, Baranov PV, Curran J. The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype. Bmc Genomics. 16: 986. PMID 26589636 DOI: 10.1186/s12864-015-2179-8  1
2015 Dieudonné FX, O'Connor PB, Gubler-Jaquier P, Yasrebi H, Conne B, Nikolaev S, Antonarakis S, Baranov PV, Curran J. The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype. Bmc Genomics. 16: 986. PMID 26589636 DOI: 10.1186/s12864-015-2179-8  1
2015 Calvel P, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J. A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. PMID 26544196 DOI: 10.1159/000441512  1
2015 Calvel P, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J. A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. PMID 26544196 DOI: 10.1159/000441512  1
2015 Guipponi M, Santoni FA, Setola V, Gehrig C, Rotharmel M, Cuenca M, Guillin O, Dikeos D, Georgantopoulos G, Papadimitriou G, Curtis L, Méary A, Schürhoff F, Jamain S, Avramopoulos D, ... ... Antonarakis SE, et al. Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes. Plos One. 10: e0141630. PMID 26488584 DOI: 10.1371/Journal.Pone.0141630  1
2015 Guipponi M, Santoni FA, Setola V, Gehrig C, Rotharmel M, Cuenca M, Guillin O, Dikeos D, Georgantopoulos G, Papadimitriou G, Curtis L, Méary A, Schürhoff F, Jamain S, Avramopoulos D, ... ... Antonarakis SE, et al. Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes. Plos One. 10: e0141630. PMID 26488584 DOI: 10.1371/Journal.Pone.0141630  1
2015 Rosa A, Chande A, Ziglio S, De Sanctis V, Bertorelli R, Goh SL, McCauley SM, Nowosielska A, Antonarakis SE, Luban J, Santoni FA, Pizzato M. HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation. Nature. 526: 212-7. PMID 26416734 DOI: 10.1038/Nature15399  1
2015 Rosa A, Chande A, Ziglio S, De Sanctis V, Bertorelli R, Goh SL, McCauley SM, Nowosielska A, Antonarakis SE, Luban J, Santoni FA, Pizzato M. HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation. Nature. 526: 212-7. PMID 26416734 DOI: 10.1038/Nature15399  1
2015 Santoni FA, Makrythanasis P, Antonarakis SE. CATCHing putative causative variants in consanguineous families. Bmc Bioinformatics. 16: 310. PMID 26415661 DOI: 10.1186/s12859-015-0727-5  0.01
2015 Santoni FA, Makrythanasis P, Antonarakis SE. CATCHing putative causative variants in consanguineous families. Bmc Bioinformatics. 16: 310. PMID 26415661 DOI: 10.1186/s12859-015-0727-5  1
2015 Pule GD, Ngo Bitoungui VJ, Chetcha Chemegni B, Kengne AP, Antonarakis S, Wonkam A. Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions. Omics : a Journal of Integrative Biology. 19: 627-31. PMID 26393293 DOI: 10.1089/omi.2015.0124  0.01
2015 Pule GD, Ngo Bitoungui VJ, Chetcha Chemegni B, Kengne AP, Antonarakis S, Wonkam A. Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions. Omics : a Journal of Integrative Biology. 19: 627-31. PMID 26393293 DOI: 10.1089/omi.2015.0124  0.01
2015 Chentouf A, Dahdouh A, Guipponi M, Oubaiche ML, Chaouch M, Hamamy H, Antonarakis SE. Familial epilepsy in Algeria: Clinical features and inheritance profiles. Seizure. 31: 12-8. PMID 26362371 DOI: 10.1016/j.seizure.2015.06.015  0.01
2015 Chentouf A, Dahdouh A, Guipponi M, Oubaiche ML, Chaouch M, Hamamy H, Antonarakis SE. Familial epilepsy in Algeria: Clinical features and inheritance profiles. Seizure. 31: 12-8. PMID 26362371 DOI: 10.1016/j.seizure.2015.06.015  1
2015 Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Hibaoui Y, Popadin K, Bonilla X, Guipponi M, Gehrig C, Vannier A, Carre-Pigeon F, Feki A, Nizetic D, Antonarakis SE. DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins. Plos One. 10: e0135555. PMID 26317209 DOI: 10.1371/journal.pone.0135555  1
2015 Letourneau A, Cobellis G, Fort A, Santoni F, Garieri M, Falconnet E, Ribaux P, Vannier A, Guipponi M, Carninci P, Borel C, Antonarakis SE. HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells. Plos One. 10: e0126475. PMID 25955728 DOI: 10.1371/Journal.Pone.0126475  1
2015 Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, ... ... Antonarakis SE, et al. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Research. 25: 948-57. PMID 25917818 DOI: 10.1101/Gr.186882.114  1
2015 Brault V, Duchon A, Romestaing C, Sahun I, Pothion S, Karout M, Borel C, Dembele D, Bizot JC, Messaddeq N, Sharp AJ, Roussel D, Antonarakis SE, Dierssen M, Hérault Y. Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region. Plos Genetics. 11: e1005062. PMID 25803843 DOI: 10.1371/Journal.Pgen.1005062  1
2015 Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, ... Antonarakis SE, et al. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). Human Molecular Genetics. 24: 3143-54. PMID 25701871 DOI: 10.1093/Hmg/Ddv065  1
2015 Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S, Baldo C, Dagna-Bricarelli F, Hannan S, Mortensen M, Ballard D, Syndercombe Court D, ... ... Antonarakis SE, et al. Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration. Stem Cells (Dayton, Ohio). 33: 2077-84. PMID 25694335 DOI: 10.1002/Stem.1968  1
2015 Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S, Baldo C, Dagna-Bricarelli F, Hannan S, Mortensen M, Ballard D, Syndercombe Court D, ... ... Antonarakis SE, et al. Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration. Stem Cells (Dayton, Ohio). 33: 2077-84. PMID 25694335 DOI: 10.1002/Stem.1968  1
2015 Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, ... ... Antonarakis SE, et al. Galanin pathogenic mutations in temporal lobe epilepsy. Human Molecular Genetics. 24: 3082-91. PMID 25691535 DOI: 10.1093/hmg/ddv060  1
2015 Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, ... ... Antonarakis SE, et al. Galanin pathogenic mutations in temporal lobe epilepsy. Human Molecular Genetics. 24: 3082-91. PMID 25691535 DOI: 10.1093/hmg/ddv060  1
2015 Bosman A, Letourneau A, Sartiani L, Del Lungo M, Ronzoni F, Kuziakiv R, Tohonen V, Zucchelli M, Santoni F, Guipponi M, Dumevska B, Hovatta O, Antonarakis SE, Jaconi ME. Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21. Stem Cells (Dayton, Ohio). 33: 1434-46. PMID 25645121 DOI: 10.1002/stem.1961  0.01
2015 Bosman A, Letourneau A, Sartiani L, Del Lungo M, Ronzoni F, Kuziakiv R, Tohonen V, Zucchelli M, Santoni F, Guipponi M, Dumevska B, Hovatta O, Antonarakis SE, Jaconi ME. Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21. Stem Cells (Dayton, Ohio). 33: 1434-46. PMID 25645121 DOI: 10.1002/stem.1961  1
2015 Gutierrez-Arcelus M, Ongen H, Lappalainen T, Montgomery SB, Buil A, Yurovsky A, Bryois J, Padioleau I, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Giger T, Borel C, ... ... Antonarakis SE, et al. Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. Plos Genetics. 11: e1004958. PMID 25634236 DOI: 10.1371/journal.pgen.1004958  1
2015 Borel C, Ferreira PG, Santoni F, Delaneau O, Fort A, Popadin KY, Garieri M, Falconnet E, Ribaux P, Guipponi M, Padioleau I, Carninci P, Dermitzakis ET, Antonarakis SE. Biased allelic expression in human primary fibroblast single cells. American Journal of Human Genetics. 96: 70-80. PMID 25557783 DOI: 10.1016/J.Ajhg.2014.12.001  1
2014 Hibaoui Y, Grad I, Letourneau A, Santoni FA, Antonarakis SE, Feki A. Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. Genomics Data. 2: 226-9. PMID 26484098 DOI: 10.1016/j.gdata.2014.07.006  1
2014 Hibaoui Y, Grad I, Letourneau A, Santoni FA, Antonarakis SE, Feki A. Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. Genomics Data. 2: 226-9. PMID 26484098 DOI: 10.1016/j.gdata.2014.07.006  1
2014 Hamamy H, Makrythanasis P, Al-Allawi N, Muhsin AA, Antonarakis SE. Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. Bmc Medical Genetics. 15: 135. PMID 25516138 DOI: 10.1186/s12881-014-0135-0  0.01
2014 Hamamy H, Makrythanasis P, Al-Allawi N, Muhsin AA, Antonarakis SE. Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report. Bmc Medical Genetics. 15: 135. PMID 25516138 DOI: 10.1186/s12881-014-0135-0  1
2014 Popadin KY, Gutierrez-Arcelus M, Lappalainen T, Buil A, Steinberg J, Nikolaev SI, Lukowski SW, Bazykin GA, Seplyarskiy VB, Ioannidis P, Zdobnov EM, Dermitzakis ET, Antonarakis SE. Gene age predicts the strength of purifying selection acting on gene expression variation in humans. American Journal of Human Genetics. 95: 660-74. PMID 25480033 DOI: 10.1016/j.ajhg.2014.11.003  1
2014 Nikolaev S, Santoni F, Garieri M, Makrythanasis P, Falconnet E, Guipponi M, Vannier A, Radovanovic I, Bena F, Forestier F, Schaller K, Dutoit V, Clement-Schatlo V, Dietrich PY, Antonarakis SE. Extrachromosomal driver mutations in glioblastoma and low-grade glioma Nature Communications. 5. PMID 25471132 DOI: 10.1038/ncomms6690  1
2014 Guipponi M, Santoni FA, Setola V, Gehrig C, Rotharmel M, Cuenca M, Guillin O, Dikeos D, Georgantopoulos G, Papadimitriou G, Curtis L, Méary A, Schürhoff F, Jamain S, Avramopoulos D, ... ... Antonarakis SE, et al. Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. Plos One. 9: e112745. PMID 25420024 DOI: 10.1371/Journal.Pone.0112745  1
2014 Gannagé-Yared MH, Makrythanasis P, Chouery E, Sobacchi C, Mehawej C, Santoni FA, Guipponi M, Antonarakis SE, Hamamy H, Mégarbané A. Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. Bone. 68: 142-5. PMID 25180662 DOI: 10.1016/j.bone.2014.08.014  0.01
2014 Gannagé-Yared MH, Makrythanasis P, Chouery E, Sobacchi C, Mehawej C, Santoni FA, Guipponi M, Antonarakis SE, Hamamy H, Mégarbané A. Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. Bone. 68: 142-5. PMID 25180662 DOI: 10.1016/j.bone.2014.08.014  1
2014 Nikolaev SI, Garieri M, Santoni F, Falconnet E, Ribaux P, Guipponi M, Murray A, Groet J, Giarin E, Basso G, Nizetic D, Antonarakis SE. Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations. Nature Communications. 5: 4654. PMID 25105841 DOI: 10.1038/ncomms5654  0.01
2014 Nikolaev SI, Garieri M, Santoni F, Falconnet E, Ribaux P, Guipponi M, Murray A, Groet J, Giarin E, Basso G, Nizetic D, Antonarakis SE. Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations. Nature Communications. 5: 4654. PMID 25105841 DOI: 10.1038/ncomms5654  1
2014 Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, ... ... Antonarakis SE, et al. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Human Mutation. 35: 1203-10. PMID 25044680 DOI: 10.1002/humu.22617  0.01
2014 Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, ... ... Antonarakis SE, et al. Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. Human Mutation. 35: 1203-10. PMID 25044680 DOI: 10.1002/humu.22617  1
2014 Blouin JL, Bevillard J, Makrythanasis P, Guipponi M, Santoni F, Antonarakis SE, Fokstuen S. Next generation diagnostics on cardiomyopathy. Molecular Cytogenetics. 7: I4. PMID 24949098 DOI: 10.1186/1755-8166-7-S1-I4  1
2014 Makrythanasis P, Temtamy S, Aglan MS, Otaify GA, Hamamy H, Antonarakis SE. A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. Human Mutation. 35: 959-63. PMID 24864036 DOI: 10.1002/humu.22597  0.01
2014 Makrythanasis P, Temtamy S, Aglan MS, Otaify GA, Hamamy H, Antonarakis SE. A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. Human Mutation. 35: 959-63. PMID 24864036 DOI: 10.1002/humu.22597  1
2014 Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, Weckhuysen S, Fosselle E, Suls A, De Jonghe P, Vasselon Raina M, Lesca G, Depienne C, An-Gourfinkel I, Vlaicu M, ... ... Antonarakis SE, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology. 82: 2101-6. PMID 24814846 DOI: 10.1212/WNL.0000000000000488  1
2014 Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, ... ... Antonarakis SE, et al. Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. Plos Genetics. 10: e1004340. PMID 24784881 DOI: 10.1371/Journal.Pgen.1004340  1
2014 MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 508: 469-76. PMID 24759409 DOI: 10.1038/Nature13127  1
2014 Sahún I, Marechal D, Pereira PL, Nalesso V, Gruart A, Garcia JM, Antonarakis SE, Dierssen M, Herault Y. Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome. Genetics. 197: 899-912. PMID 24752061 DOI: 10.1534/Genetics.114.165241  1
2014 Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, ... ... Antonarakis SE, et al. Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature. 508: 345-50. PMID 24740065 DOI: 10.1038/Nature13200  1
2014 Makrythanasis P, Hamamy H, Antonarakis SE, Mauron A, Hurst SA. Analysis of the Born in Bradford birth cohort. Lancet (London, England). 383: 123. PMID 24411966 DOI: 10.1016/S0140-6736(14)60019-2  0.01
2014 Makrythanasis P, Hamamy H, Antonarakis SE, Mauron A, Hurst SA. Analysis of the Born in Bradford birth cohort. Lancet (London, England). 383: 123. PMID 24411966 DOI: 10.1016/S0140-6736(14)60019-2  1
2014 Santoni FA, Makrythanasis P, Nikolaev S, Guipponi M, Robyr D, Bottani A, Antonarakis SE. Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Research. 24: 349-55. PMID 24389049 DOI: 10.1101/gr.163832.113  0.01
2014 Santoni FA, Makrythanasis P, Nikolaev S, Guipponi M, Robyr D, Bottani A, Antonarakis SE. Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster. Genome Research. 24: 349-55. PMID 24389049 DOI: 10.1101/gr.163832.113  1
2014 Hibaoui Y, Grad I, Letourneau A, Sailani MR, Dahoun S, Santoni FA, Gimelli S, Guipponi M, Pelte MF, Béna F, Antonarakis SE, Feki A. Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. Embo Molecular Medicine. 6: 259-77. PMID 24375627 DOI: 10.1002/emmm.201302848  1
2014 Coppola A, Romito A, Borel C, Gehrig C, Gagnebin M, Falconnet E, Izzo A, Altucci L, Banfi S, Antonarakis SE, Minchiotti G, Cobellis G. Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications. Stem Cell Research. 12: 323-37. PMID 24365598 DOI: 10.1016/j.scr.2013.11.008  1
2013 Popadin K, Gutierrez-Arcelus M, Dermitzakis ET, Antonarakis SE. Genetic and epigenetic regulation of human lincRNA gene expression. American Journal of Human Genetics. 93: 1015-26. PMID 24268656 DOI: 10.1016/j.ajhg.2013.10.022  0.01
2013 Popadin K, Gutierrez-Arcelus M, Dermitzakis ET, Antonarakis SE. Genetic and epigenetic regulation of human lincRNA gene expression. American Journal of Human Genetics. 93: 1015-26. PMID 24268656 DOI: 10.1016/j.ajhg.2013.10.022  1
2013 Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzàlez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, ... ... Antonarakis SE, et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 501: 506-11. PMID 24037378 DOI: 10.1038/Nature12531  1
2013 Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, ... ... Antonarakis SE, et al. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. American Journal of Human Genetics. 93: 346-56. PMID 23891471 DOI: 10.1016/J.Ajhg.2013.07.009  1
2013 Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, ... ... Antonarakis SE, et al. The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Research. 23: 1410-21. PMID 23783273 DOI: 10.1101/Gr.147991.112  1
2013 Gutierrez-Arcelus M, Lappalainen T, Montgomery SB, Buil A, Ongen H, Yurovsky A, Bryois J, Giger T, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Padioleau I, Borel C, ... ... Antonarakis SE, et al. Passive and active DNA methylation and the interplay with genetic variation in gene regulation. Elife. 2: e00523. PMID 23755361 DOI: 10.7554/eLife.00523  1
2013 Nikolaev SI, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, Hoischen A, Veltman JA, Groet J, Nizetic D, Antonarakis SE. Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. Blood. 122: 554-61. PMID 23733339 DOI: 10.1182/blood-2013-03-491936  0.01
2013 Nikolaev SI, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, Hoischen A, Veltman JA, Groet J, Nizetic D, Antonarakis SE. Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. Blood. 122: 554-61. PMID 23733339 DOI: 10.1182/blood-2013-03-491936  1
2013 Nica AC, Ongen H, Irminger JC, Bosco D, Berney T, Antonarakis SE, Halban PA, Dermitzakis ET. Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome. Genome Research. 23: 1554-62. PMID 23716500 DOI: 10.1101/gr.150706.112  1
2013 Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, ... ... Antonarakis SE, et al. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 162: 388-403. PMID 23533028 DOI: 10.1002/ajmg.b.32148  1
2013 Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, ... ... Antonarakis SE, et al. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 162: 388-403. PMID 23533028 DOI: 10.1002/ajmg.b.32148  1
2013 De Iaco A, Santoni F, Vannier A, Guipponi M, Antonarakis S, Luban J. TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm. Retrovirology. 10: 20. PMID 23414560 DOI: 10.1186/1742-4690-10-20  1
2013 Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, ... ... Antonarakis SE, et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clinical Genetics. 84: 539-45. PMID 23320472 DOI: 10.1111/Cge.12081  1
2013 Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Ku?inskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, ... ... Antonarakis SE, et al. Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. European Journal of Human Genetics : Ejhg. 21: 659-65. PMID 23249956 DOI: 10.1038/Ejhg.2012.229  1
2012 Nikolaev SI, Sotiriou SK, Pateras IS, Santoni F, Sougioultzis S, Edgren H, Almusa H, Robyr D, Guipponi M, Saarela J, Gorgoulis VG, Antonarakis SE, Halazonetis TD. A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas. Cancer Research. 72: 6279-89. PMID 23204322 DOI: 10.1158/0008-5472.Can-12-3869  1
2012 Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, Tanzer A, Lagarde J, Lin W, Schlesinger F, Xue C, Marinov GK, Khatun J, Williams BA, Zaleski C, ... ... Antonarakis SE, et al. Landscape of transcription in human cells. Nature. 489: 101-8. PMID 22955620 DOI: 10.1038/Nature11233  1
2012 Attar H, Bedard K, Migliavacca E, Gagnebin M, Dupré Y, Descombes P, Borel C, Deutsch S, Prokisch H, Meitinger T, Mehta D, Wichmann E, Delabar JM, Dermitzakis ET, Krause KH, ... Antonarakis SE, et al. Extensive natural variation for cellular hydrogen peroxide release is genetically controlled. Plos One. 7: e43566. PMID 22952707 DOI: 10.1371/Journal.Pone.0043566  1
2012 Tlili A, Hoischen A, Ripoll C, Benabou E, Badel A, Ronan A, Touraine R, Grattau Y, Stora S, van Bon B, de Vries B, Menten B, Bockaert N, Gecz J, Antonarakis SE, et al. BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients. Molecular Neurobiology. 46: 297-303. PMID 22669612 DOI: 10.1007/S12035-012-8284-7  1
2012 Borel C, Migliavacca E, Letourneau A, Gagnebin M, Béna F, Sailani MR, Dermitzakis ET, Sharp AJ, Antonarakis SE. Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Human Mutation. 33: 1302-9. PMID 22573514 DOI: 10.1002/humu.22115  1
2012 Cossec JC, Lavaur J, Berman DE, Rivals I, Hoischen A, Stora S, Ripoll C, Mircher C, Grattau Y, Olivomarin JC, de Chaumont F, Lecourtois M, Antonarakis SE, Veltman JA, Delabar JM, et al. Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Human Molecular Genetics. 21: 3156-72. PMID 22511594 DOI: 10.1093/hmg/dds142  1
2012 Radhakrishna U, Nath SK, McElreavey K, Ratnamala U, Sun C, Maiti AK, Gagnebin M, Béna F, Newkirk HL, Sharp AJ, Everman DB, Murray JC, Schwartz CE, Antonarakis SE, Butler MG. Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. Journal of Medical Genetics. 49: 270-6. PMID 22499347 DOI: 10.1136/jmedgenet-2012-100826  1
2012 Adams D, Altucci L, Antonarakis SE, Ballesteros J, Beck S, Bird A, Bock C, Boehm B, Campo E, Caricasole A, Dahl F, Dermitzakis ET, Enver T, Esteller M, Estivill X, et al. BLUEPRINT to decode the epigenetic signature written in blood. Nature Biotechnology. 30: 224-6. PMID 22398613 DOI: 10.1038/Nbt.2153  1
2012 Schneider M, Van der Linden M, Glaser B, Rizzi E, Dahoun SP, Hinard C, Bartoloni L, Antonarakis SE, Debbané M, Eliez S. Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome. Psychiatry Research. 196: 277-84. PMID 22377578 DOI: 10.1016/j.psychres.2011.08.017  1
2012 Djebali S, Lagarde J, Kapranov P, Lacroix V, Borel C, Mudge JM, Howald C, Foissac S, Ucla C, Chrast J, Ribeca P, Martin D, Murray RR, Yang X, Ghamsari L, ... ... Antonarakis SE, et al. Evidence for transcript networks composed of chimeric RNAs in human cells. Plos One. 7: e28213. PMID 22238572 DOI: 10.1371/Journal.Pone.0028213  1
2012 Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, ... ... Antonarakis SE, et al. Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nature Genetics. 44: 133-9. PMID 22197931 DOI: 10.1038/Ng.1026  1
2012 Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, ... ... Antonarakis SE, et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics. 49: 119-25. PMID 22147889 DOI: 10.1136/Jmedgenet-2011-100409  1
2012 Makrythanasis P, Gimelli S, Béna F, Dahoun S, Morris MA, Antonarakis SE, Bottani A. Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? European Journal of Medical Genetics. 55: 63-6. PMID 22080113 DOI: 10.1016/j.ejmg.2011.11.001  1
2011 Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, ... ... Antonarakis SE, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478: 97-102. PMID 21881559 DOI: 10.1038/Nature10406  1
2011 Liu C, Belichenko PV, Zhang L, Fu D, Kleschevnikov AM, Baldini A, Antonarakis SE, Mobley WC, Yu YE. Mouse models for Down syndrome-associated developmental cognitive disabilities. Developmental Neuroscience. 33: 404-13. PMID 21865664 DOI: 10.1159/000329422  1
2011 Sharp AJ, Stathaki E, Migliavacca E, Brahmachary M, Montgomery SB, Dupre Y, Antonarakis SE. DNA methylation profiles of human active and inactive X chromosomes. Genome Research. 21: 1592-600. PMID 21862626 DOI: 10.1101/gr.112680.110  1
2011 Bousquet J, Anto JM, Sterk PJ, Adcock IM, Chung KF, Roca J, Agusti A, Brightling C, Cambon-Thomsen A, Cesario A, Abdelhak S, Antonarakis SE, Avignon A, Ballabio A, Baraldi E, et al. Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Medicine. 3: 43. PMID 21745417 DOI: 10.1186/Gm259  1
2011 Hamamy H, Antonarakis SE, Cavalli-Sforza LL, Temtamy S, Romeo G, Kate LP, Bennett RL, Shaw A, Megarbane A, van Duijn C, Bathija H, Fokstuen S, Engel E, Zlotogora J, Dermitzakis E, et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 13: 841-7. PMID 21555946 DOI: 10.1097/Gim.0B013E318217477F  1
2011 . A user's guide to the encyclopedia of DNA elements (ENCODE). Plos Biology. 9: e1001046. PMID 21526222 DOI: 10.1371/Journal.Pbio.1001046  1
2011 Valsesia A, Rimoldi D, Martinet D, Ibberson M, Benaglio P, Quadroni M, Waridel P, Gaillard M, Pidoux M, Rapin B, Rivolta C, Xenarios I, Simpson AJ, Antonarakis SE, Beckmann JS, et al. Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma. Plos One. 6: e18369. PMID 21494657 DOI: 10.1371/Journal.Pone.0018369  1
2011 Fasquelle L, Scott HS, Lenoir M, Wang J, Rebillard G, Gaboyard S, Venteo S, François F, Mausset-Bonnefont AL, Antonarakis SE, Neidhart E, Chabbert C, Puel JL, Guipponi M, Delprat B. Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. The Journal of Biological Chemistry. 286: 17383-97. PMID 21454591 DOI: 10.1074/Jbc.M110.190652  1
2011 Robyr D, Friedli M, Gehrig C, Arcangeli M, Marin M, Guipponi M, Farinelli L, Barde I, Verp S, Trono D, Antonarakis SE. Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences. Plos One. 6: e17634. PMID 21408183 DOI: 10.1371/Journal.Pone.0017634  1
2011 Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, et al. Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. Investigative Ophthalmology & Visual Science. 52: 6814-9. PMID 21357393 DOI: 10.1167/iovs.10-6815  1
2011 Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, ... ... Antonarakis SE, et al. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Plos Biology. 9: e1000582. PMID 21267068 DOI: 10.1371/Journal.Pbio.1000582  1
2011 Fokstuen S, Munoz A, Melacini P, Iliceto S, Perrot A, Ozcelik C, Jeanrenaud X, Rieubland C, Farr M, Faber L, Sigwart U, Mach F, Lerch R, Antonarakis SE, Blouin JL. Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. Journal of Medical Genetics. 48: 572-6. PMID 21239446 DOI: 10.1136/jmg.2010.083345  1
2011 Borel C, Deutsch S, Letourneau A, Migliavacca E, Montgomery SB, Dimas AS, Vejnar CE, Attar H, Gagnebin M, Gehrig C, Falconnet E, Dupré Y, Dermitzakis ET, Antonarakis SE. Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Research. 21: 68-73. PMID 21147911 DOI: 10.1101/gr.109371.110  1
2011 Corbin JG, Paluszkiewicz SM, Martin BS, Huntsman MM, Tranfaglia MR, Liu C, Belichenko PV, Zhang L, Fu D, Kleschevnikov AM, Baldini A, Antonarakis SE, Mobley WC, Yu YE, Chakrabarti L, et al. Author and Subject Index Developmental Neuroscience. 33: 468-468. DOI: 10.1159/000334885  1
2010 Friedli M, Barde I, Arcangeli M, Verp S, Quazzola A, Zakany J, Lin-Marq N, Robyr D, Attanasio C, Spitz F, Duboule D, Trono D, Antonarakis SE. A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus. Plos One. 5: e15741. PMID 21206754 DOI: 10.1371/Journal.Pone.0015741  1
2010 Gardiner K, Herault Y, Lott IT, Antonarakis SE, Reeves RH, Dierssen M. Down syndrome: from understanding the neurobiology to therapy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 14943-5. PMID 21068296 DOI: 10.1523/Jneurosci.3728-10.2010  1
2010 Kapranov P, Ozsolak F, Kim SW, Foissac S, Lipson D, Hart C, Roels S, Borel C, Antonarakis SE, Monaghan AP, John B, Milos PM. New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism. Nature. 466: 642-6. PMID 20671709 DOI: 10.1038/Nature09190  1
2010 Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE. Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research. 20: 1271-8. PMID 20631049 DOI: 10.1101/Gr.108597.110  1
2010 Glaser B, Debbané M, Ottet MC, Vuilleumier P, Zesiger P, Antonarakis SE, Eliez S. Eye gaze during face processing in children and adolescents with 22q11.2 deletion syndrome. Journal of the American Academy of Child and Adolescent Psychiatry. 49: 665-74. PMID 20610136 DOI: 10.1016/j.jaac.2010.04.004  1
2010 Fort A, Borel C, Migliavacca E, Antonarakis SE, Fish RJ, Neerman-Arbez M. Regulation of fibrinogen production by microRNAs. Blood. 116: 2608-15. PMID 20570858 DOI: 10.1182/blood-2010-02-268011  1
2010 De Cegli R, Romito A, Iacobacci S, Mao L, Lauria M, Fedele AO, Klose J, Borel C, Descombes P, Antonarakis SE, di Bernardo D, Banfi S, Ballabio A, Cobellis G. A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biology. 11: R64. PMID 20569505 DOI: 10.1186/Gb-2010-11-6-R64  1
2010 Hovatta O, Jaconi M, Töhönen V, Béna F, Gimelli S, Bosman A, Holm F, Wyder S, Zdobnov EM, Irion O, Andrews PW, Antonarakis SE, Zucchelli M, Kere J, Feki A. A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes. Plos One. 5: e10263. PMID 20428235 DOI: 10.1371/journal.pone.0010263  1
2010 Antonarakis SE, Chakravarti A, Cohen JC, Hardy J. Mendelian disorders and multifactorial traits: the big divide or one for all? Nature Reviews. Genetics. 11: 380-4. PMID 20395971 DOI: 10.1038/Nrg2793  1
2010 Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ. A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats. Human Molecular Genetics. 19: 1967-73. PMID 20179077 DOI: 10.1093/hmg/ddq075  1
2010 Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskáčková T, Balaščák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, ... ... Antonarakis SE, et al. Correction: Genetic Structure of Europeans: A View from the North–East. Plos One. 5. DOI: 10.1371/Annotation/2849E182-Aef5-4E2B-A5Ac-0B74B30E5F48  1
2010 Beckmann JS, Antonarakis SE. Lessons from the genome-wide association studies for complex multifactorial disorders and traits Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). 287-297. DOI: 10.1007/978-3-540-37654-5_10  1
2010 Speicher MR, Antonarakis SE, Motulsky AG. Preface Vogel and Motulsky's Human Genetics: Problems and Approaches (Fourth Edition). vii-viii. DOI: 10.1007/978-3-540-37654-5  1
2009 Fellay J, Ge D, Shianna KV, Colombo S, Ledergerber B, Cirulli ET, Urban TJ, Zhang K, Gumbs CE, Smith JP, Castagna A, Cozzi-Lepri A, De Luca A, Easterbrook P, Günthard HF, ... ... Antonarakis SE, et al. Common genetic variation and the control of HIV-1 in humans. Plos Genetics. 5: e1000791. PMID 20041166 DOI: 10.1371/Journal.Pgen.1000791  1
2009 Pereira PL, Magnol L, Sahún I, Brault V, Duchon A, Prandini P, Gruart A, Bizot JC, Chadefaux-Vekemans B, Deutsch S, Trovero F, Delgado-García JM, Antonarakis SE, Dierssen M, Herault Y. A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Human Molecular Genetics. 18: 4756-69. PMID 19783846 DOI: 10.1093/Hmg/Ddp438  1
2009 Nikolaev SI, Iseli C, Sharp AJ, Robyr D, Rougemont J, Gehrig C, Farinelli L, Antonarakis SE. Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing. Plos One. 4: e6659. PMID 19684856 DOI: 10.1371/journal.pone.0006659  1
2009 Dimas AS, Deutsch S, Stranger BE, Montgomery SB, Borel C, Attar-Cohen H, Ingle C, Beazley C, Gutierrez Arcelus M, Sekowska M, Gagnebin M, Nisbett J, Deloukas P, Dermitzakis ET, Antonarakis SE. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (New York, N.Y.). 325: 1246-50. PMID 19644074 DOI: 10.1126/science.1174148  1
2009 Nikolaev SI, Deutsch S, Genolet R, Borel C, Parand L, Ucla C, Schütz F, Duriaux Sail G, Dupré Y, Jaquier-Gubler P, Araud T, Conne B, Descombes P, Vassalli JD, Curran J, ... Antonarakis SE, et al. Transcriptional and post-transcriptional profile of human chromosome 21. Genome Research. 19: 1471-9. PMID 19581486 DOI: 10.1101/gr.089425.108  1
2009 Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE. Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. Human Mutation. 30: E866-79. PMID 19562714 DOI: 10.1002/Humu.21073  1
2009 D'haene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, Field M, Jones K, Lorenz B, Menten B, Buysse K, Pattyn F, Friedli M, Ucla C, Rossier C, ... ... Antonarakis SE, et al. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. Plos Genetics. 5: e1000522. PMID 19543368 DOI: 10.1371/Journal.Pgen.1000522  1
2009 Moldrich RX, Dauphinot L, Laffaire J, Vitalis T, Hérault Y, Beart PM, Rossier J, Vivien D, Gehrig C, Antonarakis SE, Lyle R, Potier MC. Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres. Journal of Neuroscience Research. 87: 3143-52. PMID 19472221 DOI: 10.1002/Jnr.22131  1
2009 Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskácková T, Balascák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, ... ... Antonarakis SE, et al. Genetic structure of Europeans: a view from the North-East. Plos One. 4: e5472. PMID 19424496 DOI: 10.1371/Journal.Pone.0005472  1
2009 Bedard K, Attar H, Bonnefont J, Jaquet V, Borel C, Plastre O, Stasia MJ, Antonarakis SE, Krause KH. Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation. Human Mutation. 30: 1123-33. PMID 19388116 DOI: 10.1002/Humu.21029  1
2009 Beckmann JS, Sharp AJ, Antonarakis SE. CNVs and genetic medicine (excitement and consequences of a rediscovery) Cytogenetic and Genome Research. 123: 7-16. PMID 19287134 DOI: 10.1159/000184687  1
2009 Harrow J, Nagy A, Reymond A, Alioto T, Patthy L, Antonarakis SE, Guigó R. Identifying protein-coding genes in genomic sequences Genome Biology. 10: 201. PMID 19226436 DOI: 10.1186/Gb-2009-10-1-201  1
2009 Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, ... ... Antonarakis SE, et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. European Journal of Human Genetics : Ejhg. 17: 454-66. PMID 19002211 DOI: 10.1038/Ejhg.2008.214  1
2009 Lochmüller H, Aymé S, Pampinella F, Melegh B, Kuhn KA, Antonarakis SE, Meitinger T. The role of biobanking in rare diseases: European consensus expert group report Biopreservation and Biobanking. 7: 155-156. DOI: 10.1089/bio.2010.7302  1
2008 Attanasio C, Reymond A, Humbert R, Lyle R, Kuehn MS, Neph S, Sabo PJ, Goldy J, Weaver M, Haydock A, Lee K, Dorschner M, Dermitzakis ET, Antonarakis SE, Stamatoyannopoulos JA. Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells. Genome Biology. 9: R168. PMID 19055709 DOI: 10.1186/Gb-2008-9-12-R168  1
2008 Kazadi K, Loeuillet C, Deutsch S, Ciuffi A, Muñoz M, Beckmann JS, Moradpour D, Antonarakis SE, Telenti A. Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin. Nucleic Acids Research. 36: 6918-25. PMID 18978018 DOI: 10.1093/nar/gkn812  1
2008 Gagos S, Chiourea M, Christodoulidou A, Apostolou E, Raftopoulou C, Deustch S, Jefford CE, Irminger-Finger I, Shay JW, Antonarakis SE. Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening. Cancer Research. 68: 8146-55. PMID 18829574 DOI: 10.1158/0008-5472.Can-08-0945  1
2008 Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, ... ... Antonarakis SE, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine. 359: 1685-99. PMID 18784092 DOI: 10.1056/Nejmoa0805384  1
2008 Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, ... ... Antonarakis SE, et al. DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. American Journal of Human Genetics. 83: 388-400. PMID 18771760 DOI: 10.1016/J.Ajhg.2008.08.012  1
2008 Bonnefont J, Nikolaev SI, Perrier AL, Guo S, Cartier L, Sorce S, Laforge T, Aubry L, Khaitovich P, Peschanski M, Antonarakis SE, Krause KH. Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development. American Journal of Human Genetics. 83: 208-18. PMID 18656177 DOI: 10.1016/j.ajhg.2008.07.007  1
2008 Martinet D, Filges I, Schmutz NB, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F. Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients American Journal of Medical Genetics, Part A. 146: 2094-2102. PMID 18629875 DOI: 10.1002/ajmg.a.32414  1
2008 Dahoun S, Gagos S, Gagnebin M, Gehrig C, Burgi C, Simon F, Vieux C, Extermann P, Lyle R, Morris MA, Antonarakis SE, Béna F, Blouin JL. Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events. American Journal of Medical Genetics. Part A. 146: 2086-93. PMID 18627064 DOI: 10.1002/ajmg.a.32431  1
2008 Voronov SV, Frere SG, Giovedi S, Pollina EA, Borel C, Zhang H, Schmidt C, Akeson EC, Wenk MR, Cimasoni L, Arancio O, Davisson MT, Antonarakis SE, Gardiner K, De Camilli P, et al. Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome. Proceedings of the National Academy of Sciences of the United States of America. 105: 9415-20. PMID 18591654 DOI: 10.1073/Pnas.0803756105  1
2008 Djebali S, Kapranov P, Foissac S, Lagarde J, Reymond A, Ucla C, Wyss C, Drenkow J, Dumais E, Murray RR, Lin C, Szeto D, Denoeud F, Calvo M, Frankish A, ... ... Antonarakis SE, et al. Efficient targeted transcript discovery via array-based normalization of RACE libraries. Nature Methods. 5: 629-35. PMID 18500348 DOI: 10.1038/Nmeth.1216  1
2008 Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL. A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Human Mutation. 29: 879-85. PMID 18409188 DOI: 10.1002/humu.20749  1
2008 Borel C, Gagnebin M, Gehrig C, Kriventseva EV, Zdobnov EM, Antonarakis SE. Mapping of small RNAs in the human ENCODE regions. American Journal of Human Genetics. 82: 971-81. PMID 18394580 DOI: 10.1016/j.ajhg.2008.02.016  1
2008 Friedli M, Nikolaev S, Lyle R, Arcangeli M, Duboule D, Spitz F, Antonarakis SE. Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 19: 272-8. PMID 18392654 DOI: 10.1007/S00335-008-9106-0  1
2008 Loeuillet C, Deutsch S, Ciuffi A, Robyr D, Taffé P, Muñoz M, Beckmann JS, Antonarakis SE, Telenti A. In vitro whole-genome analysis identifies a susceptibility locus for HIV-1 Plos Biology. 6: 0319-0327. PMID 18288889 DOI: 10.1371/journal.pbio.0060032  1
2008 Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, ... ... Antonarakis SE, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Human Mutation. 29: 289-98. PMID 18022865 DOI: 10.1002/Humu.20656  1
2008 Guipponi M, Antonarakis SE, Scott HS. TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. Frontiers in Bioscience : a Journal and Virtual Library. 13: 1557-67. PMID 17981648 DOI: 10.2741/2780  1
2007 Nikolaev SI, Montoya-Burgos JI, Popadin K, Parand L, Margulies EH, Antonarakis SE. Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements. Proceedings of the National Academy of Sciences of the United States of America. 104: 20443-8. PMID 18077382 DOI: 10.1073/pnas.0705658104  1
2007 Loeuillet C, Weale M, Deutsch S, Rotger M, Soranzo N, Wyniger J, Lettre G, Dupré Y, Thuillard D, Beckmann JS, Antonarakis SE, Goldstein DB, Telenti A. Promoter polymorphisms and allelic imbalance in ABCB1 expression Pharmacogenetics and Genomics. 17: 951-959. PMID 18075465 DOI: 10.1097/FPC.0b013e3282eff934  1
2007 Lyle R, Prandini P, Osoegawa K, ten Hallers B, Humphray S, Zhu B, Eyras E, Castelo R, Bird CP, Gagos S, Scott C, Cox A, Deutsch S, Ucla C, Cruts M, ... ... Antonarakis SE, et al. Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Research. 17: 1690-6. PMID 17895424 DOI: 10.1101/Gr.6675307  1
2007 Sethupathy P, Borel C, Gagnebin M, Grant GR, Deutsch S, Elton TS, Hatzigeorgiou AG, Antonarakis SE. Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. American Journal of Human Genetics. 81: 405-13. PMID 17668390 DOI: 10.1086/519979  1
2007 Prandini P, Deutsch S, Lyle R, Gagnebin M, Vivier CD, Delorenzi M, Gehrig C, Descombes P, Sherman S, Bricarelli FD, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE. Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance American Journal of Human Genetics. 81: 252-263. PMID 17668376 DOI: 10.1086/519248  1
2007 Fellay J, Shianna KV, Ge D, Colombo S, Ledergerber B, Weale M, Zhang K, Gumbs C, Castagna A, Cossarizza A, Cozzi-Lepri A, De Luca A, Easterbrook P, Francioli P, Mallal S, ... ... Antonarakis SE, et al. A whole-genome association study of major determinants for host control of HIV-1. Science (New York, N.Y.). 317: 944-7. PMID 17641165 DOI: 10.1126/science.1143767  1
2007 Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability Nature Reviews Genetics. 8: 639-646. PMID 17637735 DOI: 10.1038/Nrg2149  1
2007 Washietl S, Pedersen JS, Korbel JO, Stocsits C, Gruber AR, Hackermüller J, Hertel J, Lindemeyer M, Reiche K, Tanzer A, Ucla C, Wyss C, Antonarakis SE, Denoeud F, Lagarde J, et al. Structured RNAs in the ENCODE selected regions of the human genome. Genome Research. 17: 852-64. PMID 17568003 DOI: 10.1101/Gr.5650707  1
2007 Zheng D, Frankish A, Baertsch R, Kapranov P, Reymond A, Choo SW, Lu Y, Denoeud F, Antonarakis SE, Snyder M, Ruan Y, Wei CL, Gingeras TR, Guigó R, Harrow J, et al. Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. Genome Research. 17: 839-51. PMID 17568002 DOI: 10.1101/Gr.5586307  1
2007 Margulies EH, Cooper GM, Asimenos G, Thomas DJ, Dewey CN, Siepel A, Birney E, Keefe D, Schwartz AS, Hou M, Taylor J, Nikolaev S, Montoya-Burgos JI, Löytynoja A, Whelan S, ... ... Antonarakis SE, et al. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Research. 17: 760-74. PMID 17567995 DOI: 10.1101/Gr.6034307  1
2007 Denoeud F, Kapranov P, Ucla C, Frankish A, Castelo R, Drenkow J, Lagarde J, Alioto T, Manzano C, Chrast J, Dike S, Wyss C, Henrichsen CN, Holroyd N, Dickson MC, ... ... Antonarakis SE, et al. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Genome Research. 17: 746-59. PMID 17567994 DOI: 10.1101/Gr.5660607  1
2007 Gothelf D, Hoeft F, Hinard C, Hallmayer JF, Stoecker JV, Antonarakis SE, Morris MA, Reiss AL. Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome. Human Brain Mapping. 28: 533-42. PMID 17427209 DOI: 10.1002/hbm.20405  1
2007 Conrad B, Antonarakis SE. Gene duplication: A drive for phenotypic diversity and cause of human disease Annual Review of Genomics and Human Genetics. 8: 17-35. PMID 17386002 DOI: 10.1146/annurev.genom.8.021307.110233  1
2007 Tress ML, Martelli PL, Frankish A, Reeves GA, Wesselink JJ, Yeats C, Olason PI, Albrecht M, Hegyi H, Giorgetti A, Raimondo D, Lagarde J, Laskowski RA, López G, Sadowski MI, ... ... Antonarakis SE, et al. The implications of alternative splicing in the ENCODE protein complement. Proceedings of the National Academy of Sciences of the United States of America. 104: 5495-500. PMID 17372197 DOI: 10.1073/Pnas.0700800104  1
2007 Nikolaev S, Montoya-Burgos JI, Margulies EH, Rougemont J, Nyffeler B, Antonarakis SE. Early history of mammals is elucidated with the ENCODE multiple species sequencing data. Plos Genetics. 3: e2. PMID 17206863 DOI: 10.1371/journal.pgen.0030002  1
2007 Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U. Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. American Journal of Human Genetics. 80: 105-11. PMID 17160898 DOI: 10.1086/510724  1
2007 Dayer AG, Bottani A, Bouchardy I, Fluss J, Antonarakis SE, Haenggeli CA, Morris MA. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. Brain & Development. 29: 47-50. PMID 16844334 DOI: 10.1016/J.Braindev.2006.06.001  1
2006 Antonarakis SE, Epstein CJ. The challenge of Down syndrome. Trends in Molecular Medicine. 12: 473-9. PMID 16935027 DOI: 10.1016/J.Molmed.2006.08.005  1
2006 Harrow J, Denoeud F, Frankish A, Reymond A, Chen CK, Chrast J, Lagarde J, Gilbert JG, Storey R, Swarbreck D, Rossier C, Ucla C, Hubbard T, Antonarakis SE, Guigo R. GENCODE: producing a reference annotation for ENCODE. Genome Biology. 7: S4.1-9. PMID 16925838 DOI: 10.1186/gb-2006-7-s1-s4  1
2006 Guigó R, Flicek P, Abril JF, Reymond A, Lagarde J, Denoeud F, Antonarakis S, Ashburner M, Bajic VB, Birney E, Castelo R, Eyras E, Ucla C, Gingeras TR, Harrow J, et al. EGASP: the human ENCODE Genome Annotation Assessment Project. Genome Biology. 7: S2.1-31. PMID 16925836 DOI: 10.1186/Gb-2006-7-S1-S2  1
2006 Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A. Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes American Journal of Human Genetics. 79: 332-341. PMID 16826523 DOI: 10.1086/506371  1
2006 Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. American Journal of Medical Genetics. Part A. 140: 1375-83. PMID 16761290 DOI: 10.1002/ajmg.a.31246  1
2006 Lyle R, Radhakrishna U, Blouin JL, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki JV, Patel UC, Nath SK, Gurrieri F, Neri G, Schwartz CE, Antonarakis SE. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. American Journal of Medical Genetics. Part A. 140: 1384-95. PMID 16691619 DOI: 10.1002/ajmg.a.31247  1
2006 Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK, Radhakrishna U. Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. American Journal of Medical Genetics. Part A. 140: 1440-6. PMID 16688753 DOI: 10.1002/ajmg.a.31239  1
2006 Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. American Journal of Respiratory and Critical Care Medicine. 174: 120-6. PMID 16627867 DOI: 10.1164/rccm.200601-084OC  1
2006 Antonarakis SE, Beckmann JS. Mendelian disorders deserve more attention Nature Reviews Genetics. 7: 277-282. PMID 16534515 DOI: 10.1038/nrg1826  1
2006 Drake JA, Bird C, Nemesh J, Thomas DJ, Newton-Cheh C, Reymond A, Excoffier L, Attar H, Antonarakis SE, Dermitzakis ET, Hirschhorn JN. Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nature Genetics. 38: 223-7. PMID 16380714 DOI: 10.1038/Ng1710  1
2006 Parra G, Reymond A, Dabbouseh N, Dermitzakis ET, Castelo R, Thomson TM, Antonarakis SE, Guigó R. Tandem chimerism as a means to increase protein complexity in the human genome. Genome Research. 16: 37-44. PMID 16344564 DOI: 10.1101/Gr.4145906  1
2005 Stranger BE, Forrest MS, Clark AG, Minichiello MJ, Deutsch S, Lyle R, Hunt S, Kahl B, Antonarakis SE, Tavaré S, Deloukas P, Dermitzakis ET. Genome-wide associations of gene expression variation in humans. Plos Genetics. 1: e78. PMID 16362079 DOI: 10.1371/Journal.Pgen.0010078  1
2005 Landau R, Morales MA, Antonarakis SE, Blouin JL, Smiley RM. Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor. Clinical Pharmacology and Therapeutics. 78: 656-63. PMID 16338281 DOI: 10.1016/j.clpt.2005.08.021  1
2005 Deutsch S, Lyle R, Dermitzakis ET, Attar H, Subrahmanyan L, Gehrig C, Parand L, Gagnebin M, Rougemont J, Jongeneel CV, Antonarakis SE. Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes Human Molecular Genetics. 14: 3741-3749. PMID 16251198 DOI: 10.1093/hmg/ddi404  1
2005 Mehenni H, Lin-Marq N, Buchet-Poyau K, Reymond A, Collart MA, Picard D, Antonarakis SE. LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. Human Molecular Genetics. 14: 2209-19. PMID 15987703 DOI: 10.1093/Hmg/Ddi225  1
2005 Valiente M, Andrés-Pons A, Gomar B, Torres J, Gil A, Tapparel C, Antonarakis SE, Pulido R. Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. The Journal of Biological Chemistry. 280: 28936-43. PMID 15951562 DOI: 10.1074/jbc.M504761200  1
2005 Eyras E, Reymond A, Castelo R, Bye JM, Camara F, Flicek P, Huckle EJ, Parra G, Shteynberg DD, Wyss C, Rogers J, Antonarakis SE, Birney E, Guigo R, Brent MR. Gene finding in the chicken genome. Bmc Bioinformatics. 6: 131. PMID 15924626 DOI: 10.1186/1471-2105-6-131  1
2005 Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro Human Mutation. 25: 543-549. PMID 15880785 DOI: 10.1002/Humu.20172  1
2005 Webster KE, O'Bryan MK, Fletcher S, Crewther PE, Aapola U, Craig J, Harrison DK, Aung H, Phutikanit N, Lyle R, Meachem SJ, Antonarakis SE, de Kretser DM, Hedger MP, Peterson P, et al. Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proceedings of the National Academy of Sciences of the United States of America. 102: 4068-73. PMID 15753313 DOI: 10.1073/pnas.0500702102  1
2005 Dauphinot L, Lyle R, Rivals I, Dang MT, Moldrich RX, Golfier G, Ettwiller L, Toyama K, Rossier J, Personnaz L, Antonarakis SE, Epstein CJ, Sinet PM, Potier MC. The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome. Human Molecular Genetics. 14: 373-84. PMID 15590701 DOI: 10.1093/Hmg/Ddi033  1
2004 Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 and Down syndrome: From genomics to pathophysiology Nature Reviews Genetics. 5: 725-738. PMID 15510164 DOI: 10.1038/nrg1448  1
2004 Feingold EA, Good PJ, Guyer MS, Kamholz S, Liefer L, Wetterstrand K, Collins FS, Gingeras TR, Kampa D, Sekinger EA, Cheng J, Hirsch H, Ghosh S, Zhu Z, Patel S, ... ... Antonarakis SE, et al. The ENCODE (ENCyclopedia of DNA Elements) Project Science. 306: 636-640. PMID 15499007 DOI: 10.1126/Science.1105136  1
2004 Dauvilliers Y, Blouin JL, Neidhart E, Carlander B, Eliaou JF, Antonarakis SE, Billiard M, Tafti M. A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q. Annals of Neurology. 56: 382-8. PMID 15349865 DOI: 10.1002/Ana.20208  1
2004 Lyle R, Gehrig C, Neergaard-Henrichsen C, Deutsch S, Antonarakis SE. Gene expression from the aneuploid chromosome in a trisomy mouse model of Down syndrome Genome Research. 14: 1268-1274. PMID 15231743 DOI: 10.1101/gr.2090904  1
2004 Landau R, Cahana A, Smiley RM, Antonarakis SE, Blouin JL. Genetic variability of mu-opioid receptor in an obstetric population. Anesthesiology. 100: 1030-3. PMID 15087647 DOI: 10.1097/00000542-200404000-00042  1
2004 Dermitzakis ET, Kirkness E, Schwarz S, Birney E, Reymond A, Antonarakis SE. Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment Genome Research. 14: 852-859. PMID 15078857 DOI: 10.1101/Gr.1934904  1
2004 Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Human Mutation. 23: 77-84. PMID 14695535 DOI: 10.1002/Humu.10284  1
2003 Antonarakis SE, Reymond A, Lyle R, Deutsch S, Dermitzakis ET. Chromosome 21 and down syndrome: The post-sequence era Cold Spring Harbor Symposia On Quantitative Biology. 68: 425-430. PMID 15338645 DOI: 10.1101/SQB.2003.68.425  1
2003 Tapparel C, Reymond A, Girardet C, Guillou L, Lyle R, Lamon C, Hutter P, Antonarakis SE. The TPTE gene family: cellular expression, subcellular localization and alternative splicing. Gene. 323: 189-99. PMID 14659893 DOI: 10.1016/J.Gene.2003.09.038  1
2003 Friedli M, Guipponi M, Bertrand S, Bertrand D, Neerman-Arbez M, Scott HS, Antonarakis SE, Reymond A. Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12. Gene. 320: 31-40. PMID 14597386 DOI: 10.1016/S0378-1119(03)00830-8  1
2003 de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, ... ... Antonarakis S, et al. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Human Molecular Genetics. 12: 1959-71. PMID 12913067 DOI: 10.1093/hmg/ddg212  1
2003 Chen H, Wang N, Huo Y, Sklar P, MacKinnon DF, Potash JB, McMahon FJ, Antonarakis SE, DePaulo JR, Ross CA, McInnis MG. Trapping and sequence analysis of 1138 putative exons from human chromosome 18. Molecular Psychiatry. 8: 619-23. PMID 12851638 DOI: 10.1038/Sj.Mp.4001288  1
2003 Lewis CM, Levinson DF, Wise LH, DeLisi LE, Straub RE, Hovatta I, Williams NM, Schwab SG, Pulver AE, Faraone SV, Brzustowicz LM, Kaufmann CA, Garver DL, Gurling HM, Lindholm E, ... ... Antonarakis SE, et al. Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. American Journal of Human Genetics. 73: 34-48. PMID 12802786 DOI: 10.1086/376549  1
2003 Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, ... ... Antonarakis SE, et al. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. American Journal of Human Genetics. 73: 49-62. PMID 12802785 DOI: 10.1086/376547  1
2003 Gold G, Blouin JL, Herrmann FR, Michon A, Mulligan R, Duriaux Saïl G, Bouras C, Giannakopoulos P, Antonarakis SE. Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 119: 44-7. PMID 12707937 DOI: 10.1002/ajmg.b.10010  1
2003 Pruitt WM, Karnoub AE, Rakauskas AC, Guipponi M, Antonarakis SE, Kurakin A, Kay BK, Sondek J, Siderovski DP, Der CJ. Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling. Biochimica Et Biophysica Acta. 1640: 61-8. PMID 12676355 DOI: 10.1016/S0167-4889(03)00002-8  1
2003 Fokstuen S, Antonarakis SE, Blouin JL. FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. American Journal of Medical Genetics. Part A. 117: 143-6. PMID 12567411 DOI: 10.1002/ajmg.a.10024  1
2003 Guigo R, Dermitzakis ET, Agarwal P, Ponting CP, Parra G, Reymond A, Abril JF, Keibler E, Lyle R, Ucla C, Antonarakis SE, Brent MR. Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes. Proceedings of the National Academy of Sciences of the United States of America. 100: 1140-5. PMID 12552088 DOI: 10.1073/Pnas.0337561100  1
2002 Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A. Human chromosome 21 gene expression atlas in the mouse Nature. 420: 582-586. PMID 12466854 DOI: 10.1038/Nature01178  1
2002 Dermitzakis ET, Reymond A, Lyle R, Scamuffa N, Ucla C, Deutsch S, Stevenson BJ, Flegel V, Bucher P, Jongeneel CV, Antonarakis SE. Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature. 420: 578-82. PMID 12466853 DOI: 10.1038/nature01251  1
2002 Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, et al. Initial sequencing and comparative analysis of the mouse genome. Nature. 420: 520-62. PMID 12466850 DOI: 10.1038/Nature01262  1
2002 Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, ... ... Antonarakis SE, et al. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Human Molecular Genetics. 11: 2829-36. PMID 12393794 DOI: 10.1093/HMG/11.23.2829  1
2002 Paoloni-Giacobino A, Rey-Berthod C, Couturier A, Antonarakis SE, Hutter P. Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors. Human Genetics. 111: 284-9. PMID 12215842 DOI: 10.1007/S00439-002-0789-0  1
2002 Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proceedings of the National Academy of Sciences of the United States of America. 99: 10282-6. PMID 12142464 DOI: 10.1073/pnas.152337699  1
2002 Reymond A, Camargo AA, Deutsch S, Stevenson BJ, Parmigiani RB, Ucla C, Bettoni F, Rossier C, Lyle R, Guipponi M, de Souza S, Iseli C, Jongeneel CV, Bucher P, Simpson AJ, ... Antonarakis SE, et al. Nineteen additional unpredicted transcripts from human chromosome 21. Genomics. 79: 824-32. PMID 12036297 DOI: 10.1006/geno.2002.6781  1
2002 Spitz F, Montavon T, Monso-Hinard C, Morris M, Ventruto ML, Antonarakis S, Ventruto V, Duboule D. A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. Genomics. 79: 493-8. PMID 11944980 DOI: 10.1006/Geno.2002.6735  1
2002 Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, ... ... Antonarakis SE, et al. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. Journal of Molecular Medicine (Berlin, Germany). 80: 124-31. PMID 11907649 DOI: 10.1007/S00109-001-0310-6  1
2002 Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, Rossier C, Antonarakis SE, Israels S, McNicol A, Weiss H, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood. 99: 1364-72. PMID 11830488 DOI: 10.1182/blood.V99.4.1364  1
2001 Guipponi M, Tapparel C, Jousson O, Scamuffa N, Mas C, Rossier C, Hutter P, Meda P, Lyle R, Reymond A, Antonarakis SE. The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family. Human Genetics. 109: 569-75. PMID 11810268 DOI: 10.1007/S004390100607  1
2001 Reymond A, Friedli M, Henrichsen CN, Chapot F, Deutsch S, Ucla C, Rossier C, Lyle R, Guipponi M, Antonarakis SE. From PREDs and open reading frames to cDNA isolation: Revisiting the human chromosome 21 transcription map Genomics. 78: 46-54. PMID 11707072 DOI: 10.1006/geno.2001.6640  1
2001 Antonarakis SE, Lyle R, Chrast R, Scott HS. Differential gene expression studies to explore the molecular pathophysiology of Down syndrome Brain Research Reviews. 36: 265-274. PMID 11690624 DOI: 10.1016/S0165-0173(01)00103-5  1
2001 Hussain NK, Jenna S, Glogauer M, Quinn CC, Wasiak S, Guipponi M, Antonarakis SE, Kay BK, Stossel TP, Lamarche-Vane N, McPherson PS. Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP. Nature Cell Biology. 3: 927-32. PMID 11584276 DOI: 10.1038/Ncb1001-927  1
2001 Marneros AG, Mehenni H, Reichenberger E, Antonarakis SE, Krieg T, Olsen BR. Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): Genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome Cytogenetics and Cell Genetics. 92: 213-216. PMID 11435690 DOI: 10.1159/000056905  1
2001 Aapola U, Lyle R, Krohn K, Antonarakis SE, Peterson P. Isolation and initial characterization of the mouse Dnmt3/gene Cytogenetics and Cell Genetics. 92: 122-126. PMID 11306809 DOI: 10.1159/000056881  1
2001 Wattenhofer M, Shibuya K, Kudoh J, Lyle R, Michaud J, Rossier C, Kawasaki K, Asakawa S, Minoshima S, Berry A, Bonne-Tamir B, Shimizu N, Antonarakis SE, Scott HS. Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Human Genetics. 108: 140-7. PMID 11281453 DOI: 10.1007/s004390000453  1
2001 Bartoloni L, Blouin JL, Maiti AK, Sainsbury A, Rossier C, Gehrig C, She JX, Marron MP, Lander ES, Meeks M, Chung E, Armengot M, Jorissen M, Scott HS, Delozier-Blanchet CD, ... ... Antonarakis SE, et al. Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Genomics. 72: 21-33. PMID 11247663 DOI: 10.1006/geno.2000.6462  1
2001 Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, ... ... Antonarakis SE, et al. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nature Genetics. 27: 59-63. PMID 11137999 DOI: 10.1038/83768  1
2000 Pulver AE, Mulle J, Nestadt G, Swartz KL, Blouin JL, Dombroski B, Liang KY, Housman DE, Kazazian HH, Antonarakis SE, Lasseter VK, Wolyniec PS, Thornquist MH, McGrath JA. Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes. Molecular Psychiatry. 5: 650-3. PMID 11126395 DOI: 10.1038/Sj.Mp.4000814  1
2000 Chrast R, Scott HS, Papasavvas MP, Rossier C, Antonarakis ES, Barras C, Davisson MT, Schmidt C, Estivill X, Dierssen M, Pritchard M, Antonarakis SE. The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. Genome Research. 10: 2006-21. PMID 11116095 DOI: 10.1101/Gr.10.12.2006  1
2000 Lynn A, Kashuk C, Petersen MB, Bailey JA, Cox DR, Antonarakis SE, Chakravarti A. Patterns of meiotic recombination on the long arm of human chromosome 21 Genome Research. 10: 1319-1332. PMID 10984450 DOI: 10.1101/Gr.138100  1
2000 Guipponi M, Brunschwig K, Chamoun Z, Scott HS, Shibuya K, Kudoh J, Delezoide AL, El Samadi S, Chettouh Z, Rossier C, Shimizu N, Mueller F, Delabar JM, Antonarakis SE. C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. Genomics. 68: 30-40. PMID 10950924 DOI: 10.1006/geno.2000.6250  1
2000 Berry A, Scott HS, Kudoh J, Talior I, Korostishevsky M, Wattenhofer M, Guipponi M, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, ... Antonarakis S, et al. Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Genomics. 68: 22-9. PMID 10950923 DOI: 10.1006/geno.2000.6253  1
2000 Levinson DF, Holmans P, Straub RE, Owen MJ, Wildenauer DB, Gejman PV, Pulver AE, Laurent C, Kendler KS, Walsh D, Norton N, Williams NM, Schwab SG, Lerer B, Mowry BJ, ... ... Antonarakis SE, et al. Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III. American Journal of Human Genetics. 67: 652-63. PMID 10924404 DOI: 10.1086/303041  1
2000 Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, ... ... Antonarakis SE, et al. The DNA sequence of human chromosome 21. Nature. 405: 311-9. PMID 10830953 DOI: 10.1038/35012518  1
2000 Antonarakis SE, McKusick VA. OMIM passes the 1,000-disease-gene mark. Nature Genetics. 25: 11. PMID 10802643 DOI: 10.1038/75497  1
2000 Pitkänen J, Doucas V, Sternsdorf T, Nakajima T, Aratani S, Jensen K, Will H, Vähämurto P, Ollila J, Vihinen M, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Krohn K, et al. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. The Journal of Biological Chemistry. 275: 16802-9. PMID 10748110 DOI: 10.1074/jbc.M908944199  1
1999 Roessler E, Mittaz L, Du Y, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SP, Muenke M, Antonarakis S. Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Human Genetics. 105: 489-495. PMID 10598817 DOI: 10.1007/S004390051135  1
1999 Chen H, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE. A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Human Genetics. 105: 399-409. PMID 10598804 DOI: 10.1007/s004390051122  1
1999 Wang SY, Cruts M, Del-Favero J, Zhang Y, Tissir F, Potier MC, Patterson D, Nizetic D, Bosch A, Chen H, Bennett L, Estivill X, Kessling A, Antonarakis SE, van Broeckhoven C. A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes. Genome Research. 9: 1059-73. PMID 10568746 DOI: 10.1101/Gr.9.11.1059  1
1999 Antonarakis SE, Blouin JL, Lasseter VK, Gehrig C, Radhakrishna U, Nestadt G, Housman DE, Kazazian HH, Kalman K, Gutman G, Fantino E, Chandy KG, Gargus JJ, Pulver AE. Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. American Journal of Medical Genetics. 88: 348-51. PMID 10402501 DOI: 10.1002/(Sici)1096-8628(19990820)88:4<348::Aid-Ajmg11>3.0.Co;2-N  1
1999 Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, ... Antonarakis SE, et al. Mutation analyses of North American APS-1 patients. Human Mutation. 13: 69-74. PMID 9888391 DOI: 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6  1
1998 Theophilus BD, Enayat MS, Higuchi M, Kazazian H, Antonarakis SE, Hill FG. Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. Human Mutation. 11: 334. PMID 10215414 DOI: 10.1002/(Sici)1098-1004(1998)11:4<334::Aid-Humu20>3.0.Co;2-#  0.56
1998 Guipponi M, Scott HS, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S, Chen H, Lalioti MD, Rossier C, Minoshima S, Shimizu N, Antonarakis SE. Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence. Human Genetics. 103: 386-92. PMID 9856478 DOI: 10.1007/s004390050838  1
1998 Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, Thornquist M, Ullrich G, McGrath J, Kasch L, Lamacz M, Thomas MG, Gehrig C, Radhakrishna U, Snyder SE, ... ... Antonarakis S, et al. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nature Genetics. 20: 70-3. PMID 9731535 DOI: 10.1038/1734  1
1998 Vallada H, Curtis D, Sham P, Kunugi H, Zhao J, Murray R, McGuffin P, Nanko S, Owen M, Gill M, Collier D, Antonarakis S, Housman D, Kazazian H, Nestadt G, et al. A transmission disequilibrium and linkage analysis of D22S278 marker alleles in 574 families: further support for a susceptibility locus for schizophrenia at 22q12 Schizophrenia Research. 32: 115-121. PMID 9713907 DOI: 10.1016/S0920-9964(98)00048-6  0.56
1998 Antonarakis SE, Van Aelst L. Mind the GAP, Rho, Rab and GDI. Nature Genetics. 19: 106-8. PMID 9620758 DOI: 10.1038/450  1
1998 Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS, Antonarakis SE, Créau N, Brahe C. Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. Genomics. 49: 1-13. PMID 9570943 DOI: 10.1006/geno.1997.5185  1
1998 Blouin JL, Duriaux Saïl G, Guipponi M, Rossier C, Pappasavas MP, Antonarakis SE. Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1. Human Genetics. 102: 282-8. PMID 9544839  1
1998 Karayiorgou M, Gogos JA, Galke BL, Wolyniec PS, Nestadt G, Antonarakis SE, Kazazian HH, Housman DE, Pulver AE. Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility. Biological Psychiatry. 43: 425-31. PMID 9532347 DOI: 10.1016/S0006-3223(97)00202-3  1
1998 Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V, Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, ... ... Antonarakis SE, et al. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. Genomics. 48: 12-23. PMID 9503011 DOI: 10.1006/Geno.1997.5146  1
1998 Theophilus BDM, Enayat MS, Higuchi M, Kazazian HH, Antonarakis SE, Hill FGH. Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes Human Mutation. 11: 334-334. DOI: 10.1002/(Sici)1098-1004(1998)11:4<334::Aid-Humu21>3.0.Co;2-X  0.88
1997 Knoepfler PS, Calvo KR, Chen H, Antonarakis SE, Kamps MP. Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1. Proceedings of the National Academy of Sciences of the United States of America. 94: 14553-8. PMID 9405651 DOI: 10.1073/Pnas.94.26.14553  1
1997 White JA, McAlpine PJ, Antonarakis S, Cann H, Eppig JT, Frazer K, Frezal J, Lancet D, Nahmias J, Pearson P, Peters J, Scott A, Scott H, Spurr N, Talbot C, et al. Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee. Genomics. 45: 468-71. PMID 9344684 DOI: 10.1006/geno.1997.4979  1
1997 Mittaz L, Scott HS, Rossier C, Seeburg PH, Higuchi M, Antonarakis SE. Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. Genomics. 41: 210-7. PMID 9143496 DOI: 10.1006/geno.1997.4655  1
1997 Fokstuen S, Bottani A, Medeiros PFV, Antonarakis SE, Stoll C, Schinzel A. Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients American Journal of Medical Genetics. 70: 130-133. PMID 9128930 DOI: 10.1002/(Sici)1096-8628(19970516)70:2<130::Aid-Ajmg5>3.0.Co;2-1  1
1996 Karayiorgou M, Gogos JA, Galke BL, Jeffery JA, Nestadt G, Wolyniec PS, Antonarakis SE, Kazazian HH, Housman DE, Driscoll DA, Pulver AE. Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus. Cold Spring Harbor Symposia On Quantitative Biology. 61: 835-43. PMID 9246508 DOI: 10.1101/Sqb.1996.061.01.082  1
1996 Pulver AE, Wolyniec PS, Housman D, Kazazian HH, Antonarakis SE, Nestadt G, Lasseter VK, McGrath JA, Dombroski B, Karayiorgou M, Ton C, Blouin JL, Kempf L. The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes. Cold Spring Harbor Symposia On Quantitative Biology. 61: 797-814. PMID 9246505 DOI: 10.1101/Sqb.1996.061.01.079  1
1996 Wildenauer DB, Schwab SG, Albus M, Hallmayer J, Lerer B, Maier W, Blackwood D, Muir W, Clair DS, Morris S, Moises HW, Yang L, Kristbjarnarson H, Helgason T, Wiese C, ... ... Antonarakis SE, et al. Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study American Journal of Medical Genetics. 67: 580-594. PMID 8950417 DOI: 10.1002/(Sici)1096-8628(19961122)67:6<580::Aid-Ajmg11>3.0.Co;2-P  1
1996 Perrin G, Morris MA, Antonarakis SE, Boltshauser E, Hutter P. Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene. Human Mutation. 7: 172-5. PMID 8829638 DOI: 10.1002/(Sici)1098-1004(1996)7:2<172::Aid-Humu15>3.0.Co;2-#  1
1996 Nadal M, Milà M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta F, Estivill X. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome. Human Genetics. 98: 460-6. PMID 8792823 DOI: 10.1007/S004390050240  1
1996 Gill M, Vallada H, Collier D, Sham P, Holmans P, Murray R, McGuffin P, Nanko S, Owen M, Antonarakis S, Housman D, Kazazian H, Nestadt G, Pulver AE, Straub RE, et al. A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22). American Journal of Medical Genetics. 67: 40-5. PMID 8678112 DOI: 10.1002/(Sici)1096-8628(19960216)67:1<40::Aid-Ajmg6>3.0.Co;2-W  1
1996 Blouin JL, Duriaux-Sail G, Chen H, Gos A, Morris MA, Rossier C, Antonarakis SE. Mapping of the gene for the p60 subunit of the human chromatin assembly factor (CAF1A) to the Down syndrome region of chromosome 21. Genomics. 33: 309-12. PMID 8660983 DOI: 10.1006/geno.1996.0199  1
1996 Wacey AI, Kemball-Cook G, Kazazian HH, Antonarakis SE, Schwaab R, Lindley P, Tuddenham EGD. The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS. Nucleic Acids Research. 24: 100-102. PMID 8594555 DOI: 10.1093/Nar/24.1.100  0.88
1995 Antonarakis SE, Kazazian HH, Gitschier J, Hutter P, de Moerloose P, Morris MA. Molecular etiology of factor VIII deficiency in hemophilia A. Advances in Experimental Medicine and Biology. 386: 19-34. PMID 8851012 DOI: 10.1007/978-1-4613-0331-2_2  1
1995 Talbot CC, Avramopouls D, Gerken S, Chakravarti A, Armour JA, Matsunami N, White R, Antonarakis SE. The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells Human Molecular Genetics. 4: 1193-1199. PMID 8528208 DOI: 10.1093/Hmg/4.7.1193  1
1995 Margolis RL, Breschel TS, Li SH, Kidwai AS, Antonarakis SE, McInnis MG, Ross CA. Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. Somatic Cell and Molecular Genetics. 21: 279-84. PMID 8525433 DOI: 10.1007/Bf02255782  1
1995 Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of factor VIII deficiency in hemophilia A. Human Mutation. 5: 1-22. PMID 7728145 DOI: 10.1002/Humu.1380050102  0.88
1995 Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood. 86: 2206-12. PMID 7662970  1
1995 Bi L, Lawler AM, Antonarakis SE, High KA, Gearhart JD, Kazazian HH. Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A Nature Genetics. 10: 119-121. PMID 7647782 DOI: 10.1038/Ng0595-119  1
1995 Antonarakis SE, Blouin JL, Pulver AE, Wolyniec P, Lasseter VK, Nestadt G, Kasch L, Babb R, Kazazian HH, Dombroski B. Schizophrenia susceptibility and chromosome 6p24-22. Nature Genetics. 11: 235-6. PMID 7581443 DOI: 10.1038/Ng1195-235  1
1995 Chen H, Morris MA, Rossier C, Blouin JL, Antonarakis SE. Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2. Genomics. 28: 470-6. PMID 7490082  1
1995 Lasseter VK, Pulver AE, Wolyniec PS, Nestadt G, Meyers D, Karayiorgou M, Housman D, Antonarakis S, Kazazian H, Kasch L. Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3. American Journal of Medical Genetics. 60: 172-3. PMID 7485255 DOI: 10.1002/Ajmg.1320600217  1
1994 Pulver AE, Karayiorgou M, Wolyniec PS, Lasseter VK, Kasch L, Nestadt G, Antonarakis S, Housman D, Kazazian HH, Meyers D. Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. American Journal of Medical Genetics. 54: 36-43. PMID 8178837 DOI: 10.1002/Ajmg.1320540108  1
1994 Hutter P, Antonarakis SE, Delozier-Blanchet CD, Morris MA. Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene. Human Molecular Genetics. 3: 663-5. PMID 8069315 DOI: 10.1093/Hmg/3.4.663  1
1994 Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, Morrow B, Karayiorgou M, Antonarakis SE, Housman D. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. The Journal of Nervous and Mental Disease. 182: 476-8. PMID 8040660 DOI: 10.1097/00005053-199408000-00010  1
1994 Antonarakis SE, McKusick VA. Discussion on mutation nomenclature. Human Mutation. 4: 166. PMID 7981723 DOI: 10.1002/humu.1380040215  1
1994 Pulver AE, Karayiorgou M, Lasseter VK, Wolyniec P, Kasch L, Antonarakis S, Housman D, Kazazian HH, Meyers D, Nestadt G. Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2. American Journal of Medical Genetics. 54: 44-50. PMID 7909990 DOI: 10.1002/Ajmg.1320540109  1
1993 Antonarakis SE, Avramopoulos D, Blouin JL, Talbot CC, Schinzel AA. Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age. Nature Genetics. 3: 146-50. PMID 8499948 DOI: 10.1038/ng0293-146  1
1993 Migeon BR, McGinniss MJ, Antonarakis SE, Axelman J, Stasiowski BA, Youssoufian H, Kearns WG, Chung A, Pearson PL, Kazazian HH, Muneer RS. Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28 Genomics. 16: 20-25. PMID 8486358 DOI: 10.1006/Geno.1993.1134  0.88
1993 Van Hul W, Van Camp G, Stuyver L, Delabar JM, McInnis MG, Warren AC, Antonarakis SE, Van Broeckhoven C. A Contiguous Physical Map of the Pericentromeric Region of Chromosome 21q between D21Z1 and D21S13E Genomics. 15: 626-630. PMID 8468058 DOI: 10.1006/geno.1993.1117  1
1993 Chen H, Kalaitsidaki M, Warren AC, Avramopoulos D, Antonarakis SE. A Novel Zinc Finger cDNA with a Polymorphic Pentanucleotide Repeat (ATTTT)n Maps on Human Chromosome 19p Genomics. 15: 621-625. PMID 8468057 DOI: 10.1006/geno.1993.1116  1
1993 Warren AC, McInnis MG, Kalaitsidaki M, Cox TK, Blaschak J, Chakravarti A, Antonarakis SE. D21S210: A highly polymorphic (GT)n marker closely linked to the β-amyloid protein precursor (APP) gene Human Genetics. 91: 87-88. PMID 8454294 DOI: 10.1007/Bf00230232  1
1993 McGinniss MJ, Kazazian HH, Hoyer LW, Bi L, Inaba H, Antonarakis SE. Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics. 15: 392-398. PMID 8449505 DOI: 10.1006/Geno.1993.1073  0.88
1993 Talbot CC, Warren AC, Avramopoulos D, Antonarakis SE. Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci Human Molecular Genetics. 2: 1325. PMID 8401519 DOI: 10.1093/hmg/2.8.1325  1
1993 McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns WG, Kazazian HH, Pearson PL, Antonarakis SE. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21. American Journal of Medical Genetics. 46: 647-651. PMID 8362906 DOI: 10.1002/Ajmg.1320460609  0.88
1993 Delabar JM, Créau N, Sinet PM, Ritter O, Antonarakis SE, Burmeister M, Chakravarti A, Nizetic D, Ohki M, Patterson D. Report of the Fourth International Workshop on Human Chromosome 21. Genomics. 18: 735-45. PMID 8307590 DOI: 10.1016/S0888-7543(05)80390-8  1
1993 Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A Nature Genetics. 5: 236-241. PMID 8275087 DOI: 10.1038/Ng1193-236  1
1993 Patersen MB, Antonarakis SE, Hassold TJ, Freeman SB, Sherman SL, Avramopoulos D, Mikkelsen M. Paternal nondisjunction in trisomy 21: Excess of male patients Human Molecular Genetics. 2: 1691-1695. PMID 8268923 DOI: 10.1093/hmg/2.10.1691  1
1993 Migeon BR, McGinniss MJ, Antonarakis SE, Axelman J, Stasiowski BA, Youssoufian H, Kearns WG, Chung A, Pearson PL, Kazazian H, Muneer RS. Erratum: Severe hemophilia A in a female by cryptic translocation: Order and orientation of factor VIII within Xq28 (Genomics (1993) 16:1 (20-25)) Genomics. 16. DOI: 10.1006/Geno.1993.1273  0.56
1992 Warren AC, Antonarakis SE, Chakravarti A. Chromosome 21 genetic linkage data set based on CEPH pedigrees Cytogenetic and Genome Research. 59: 86-87. PMID 1737517 DOI: 10.1159/000133207  1
1992 Economou EP, Kazazian HH, Antonarakis SE. Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). Genomics. 13: 909-911. PMID 1639429 DOI: 10.1016/0888-7543(92)90189-Y  0.88
1992 Aly AM, Higuchi M, Kasper CK, Kazazian HH, Antonarakis SE, Hoyer LW. Hemophilia A due to mutations that create new N-glycosylation sites. Proceedings of the National Academy of Sciences of the United States of America. 89: 4933-4937. PMID 1594597 DOI: 10.1073/Pnas.89.11.4933  0.88
1992 Warren AC, Petersen MB, Van Hul W, McInnis MG, Van Broeckhoven C, Cox TK, Chakravarti A, Antonarakis SE. D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21 Genomics. 13: 1365-1367. PMID 1505976 DOI: 10.1016/0888-7543(92)90072-Z  1
1992 Warren AC, McInnis MG, Blaschak J, Kaliatsidaki M, Petersen MB, Chakravarti A, Antonarakis SE. Dinucleotide repeat (GT)n markers on chromosome 21 Genomics. 14: 818-819. PMID 1427915 DOI: 10.1016/S0888-7543(05)80198-3  1
1992 Zhu D, Economou EP, Antonarakis SE, Maumenee IH. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. American Journal of Medical Genetics. 42: 173-179. PMID 1346348 DOI: 10.1002/Ajmg.1320420208  0.6
1992 Hendriks L, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp F, Warren A, McInnis MG, Antonarakis SE, Martin JJ. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nature Genetics. 1: 218-21. PMID 1303239 DOI: 10.1038/Ng0692-218  1
1991 Shero JH, McCormick MK, Antonarakis SE, Hieter P. Yeast artificial chromosome vectors for efficient clone manipulation and mapping Genomics. 10: 505-508. PMID 2071158 DOI: 10.1016/0888-7543(91)90343-D  1
1991 Semenza GL, Nejfelt MK, Chi SM, Antonarakis SE. Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene. Proceedings of the National Academy of Sciences of the United States of America. 88: 5680-4. PMID 2062846 DOI: 10.1073/Pnas.88.13.5680  0.44
1991 Semenza GL, Koury ST, Nejfelt MK, Gearhart JD, Antonarakis SE. Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice. Proceedings of the National Academy of Sciences of the United States of America. 88: 8725-9. PMID 1924331 DOI: 10.1073/Pnas.88.19.8725  0.48
1991 Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Economou-Petersen E, Olek K, Arai M, Inaba H, Kazazian HH. Molecular characterization of mild-to-moderate hemophilia A : detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis Proceedings of the National Academy of Sciences of the United States of America. 88: 8307-8311. PMID 1924291 DOI: 10.1073/Pnas.88.19.8307  0.88
1991 Higuchi M, Kazazian HH, Kasch L, Warren TC, McGinniss MJ, Phillips JA, Kasper C, Janco R, Antonarakis SE. 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. Proceedings of the National Academy of Sciences of the United States of America. 88: 7405-7409. PMID 1908096 DOI: 10.1073/Pnas.88.16.7405  0.88
1991 Woods-Samuels P, Kazazian HH, Antonarakis SE. Nonhomologous recombination in the human genome: deletions in the human factor VIII gene. Genomics. 10: 94-101. PMID 1904396 DOI: 10.1016/0888-7543(91)90489-2  0.88
1991 Cutting GR, Lu L, O'Hara BF, Kasch LM, Montrose-Rafizadeh C, Donovan DM, Shimada S, Antonarakis SE, Guggino WB, Uhl GR. Cloning of the gamma-aminobutyric acid (GABA) rho 1 cDNA: a GABA receptor subunit highly expressed in the retina. Proceedings of the National Academy of Sciences of the United States of America. 88: 2673-7. PMID 1849271 DOI: 10.1073/Pnas.88.7.2673  1
1991 Antonarakis SE, Lewis JG, Adelsberger PA, Petersen MB, Schinzel AA, Binkert F, Schmid W, Pangalos C, Raoul O, Chakravarti A, Hafez M, Cohen MM, Roulston D, Schwartz S, Mikkelsen M, et al. Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms New England Journal of Medicine. 324: 872-876. PMID 1825697 DOI: 10.1056/NEJM199103283241302  1
1991 Economou EP, Antonarakis SE, Dowling CC, Ibarra B, Mora Edl, Kazazian HH. Molecular heterogeneity of β-thalassemia in Mestizo Mexicans Genomics. 11: 474. PMID 1769663 DOI: 10.1016/0888-7543(91)90161-7  0.88
1991 Mcginniss MJ, Horisberger MA, Kazazian H, Antonarakis SE. An Mspl polymorphism at the MX1 locus in 21q22.3 Nucleic Acids Research. 19: 5451-5451. PMID 1717949 DOI: 10.1093/Nar/19.19.5451  0.56
1991 Francomano CA, Cutting GR, McCormick MK, Chu ML, Timpl R, Hong HK, Antonarakis SE. The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q. Human Genetics. 87: 162-6. PMID 1676701 DOI: 10.1007/Bf00204174  1
1991 Petersen MB, Slaugenhaupt SA, Lewis JG, Warren AC, Chakravarti A, Antonarakis SE. A genetic linkage map of 27 markers on human chromosome 21 Genomics. 9: 407-419. PMID 1674496 DOI: 10.1016/0888-7543(91)90406-5  1
1991 Heizmann C, Kirchgessner T, Kwiterovich PO, Ladias JA, Derby C, Antonarakis SE, Lusis AJ. DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels Human Genetics. 86: 578-584. PMID 1673959 DOI: 10.1007/Bf00201544  1
1991 Jabs EW, Warren AC, Taylor EW, Colyer CR, Meyers DA, Antonarakis SE. Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both Genomics. 9: 141-146. PMID 1672286 DOI: 10.1016/0888-7543(91)90231-3  1
1991 Economou EP, Antonarakis SE, Kazazian H, Serjeant GR, Dover GJ. Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions. Blood. 77: 174-177. DOI: 10.1182/Blood.V77.1.174.Bloodjournal771174  0.64
1990 Economou EP, Bergen AW, Warren AC, Antonarakis SE. The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome Proceedings of the National Academy of Sciences of the United States of America. 87: 2951-2954. PMID 2326257 DOI: 10.1073/PNAS.87.8.2951  1
1990 Semenza GL, Dureza RC, Traystman MD, Gearhart JD, Antonarakis SE. Human erythropoietin gene expression in transgenic mice: multiple transcription initiation sites and cis-acting regulatory elements. Molecular and Cellular Biology. 10: 930-8. PMID 2304468 DOI: 10.1128/mcb.10.3.930-938.1990  0.44
1990 Williams CA, Frias JL, McCormick MK, Antonarakis SE, Cantu ES. Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype American Journal of Medical Genetics. 110-114. PMID 2149936 DOI: 10.1002/AJMG.1320370722  1
1990 Ladias JAA, Kwiterovich PO, Smith HH, Karathanasis SK, Antonarakis SE. Apolipoprotein A1 Baltimore (Arg10→Leu), a new ApoA1 variant Human Genetics. 84: 439-445. PMID 2108924 DOI: 10.1007/BF00195816  1
1990 Traytman MD, Higuchi M, Kasper CK, Antonarakis SE, Kazazian HH. Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene Genomics. 6: 293-301. PMID 2106480 DOI: 10.1016/0888-7543(90)90569-G  0.88
1990 Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper CK, Kazazian HH, Antonarakis SE. Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics. 6: 65-71. PMID 2105906 DOI: 10.1016/0888-7543(90)90448-4  0.88
1990 McCormick MK, Antonarakis SE, Hieter P. YAC cloning of DNA embedded in an agarose matrix Gene Analysis Techniques. 7: 114-118. PMID 2091693 DOI: 10.1016/0735-0651(90)90016-9  1
1990 Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, Warren AC, Maumenee IH. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Human Genetics. 86: 54-8. PMID 1979306 DOI: 10.1007/Bf00205172  1
1990 Lewis JG, Weber JL, Petersen MB, Slaugenhaupt SA, Kwitek A, May PE, Warren AC, Chakravarti A, Antonarakis SE. Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics. 8: 400-2. PMID 1979059 DOI: 10.1016/0888-7543(90)90300-J  1
1990 Petersen MB, Jaworski CJ, Lewis JG, Antonarakis SE. Pvull and Xhol/EcoRV polymorphisms adjacent to the α- A-crystallin (CRYA1) gene on human chromosome 21 Nucleic Acids Research. 18: 4300. PMID 1974046 DOI: 10.1093/nar/18.14.4300-a  1
1990 Warren AC, Bowcock AM, Farrer LA, Antonarakis SE. An alpha satellite DNA polymorphism specific for the centromeric region of chromosome 13 Genomics. 7: 110-114. PMID 1970794 DOI: 10.1016/0888-7543(90)90525-Y  1
1990 Long JC, Chakravarti A, Boehm CD, Antonarakis S, Kazazian HH. Phylogeny of human beta-globin haplotypes and its implications for recent human evolution. American Journal of Physical Anthropology. 81: 113-30. PMID 1967905 DOI: 10.1002/Ajpa.1330810112  0.88
1990 Inaba H, Fujimaki M, Kazazian HH, Antonarakis SE. MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population. Human Genetics. 84: 214-215. PMID 1688823 DOI: 10.1007/Bf00208947  0.88
1989 Antonarakis SE, Kazazian HH. The molecular basis of hemophilia A in man. Trends in Genetics : Tig. 4: 233-7. PMID 3149806 DOI: 10.1016/0168-9525(88)90156-4  0.36
1989 Wong C, Antonarakis SE, Goff SC, Orkin SH, Forget BG, Nathan DG, Giardina PJV, Kazazian HH. β-Thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the β-globin gene Blood. 73: 914-918. PMID 2920213 DOI: 10.1182/BLOOD.V73.4.914.914  1
1989 Petersen MB, Horisberger MA, Warren AC, Antonarakis SE. Two PstI DNA polymorphisms adjacent to the human gene for the interferon-induced p78 protein (MX1 gene) Nucleic Acids Research. 17: 7546. PMID 2798118 DOI: 10.1093/nar/17.18.7546  1
1989 Ladias JAA, Kwiterovich PO, Smith HH, Miller M, Bachorik PS, Forte T, Lusis AJ, Antonarakis SE. Apolipoprotein B-100 Hopkins (Arginine<inf>4019</inf> ➧ Tryptophan): A New Apolipoprotein B-100 Variant in a Family With Premature Atherosclerosis and Hyperapobetalipoproteinemia Jama: the Journal of the American Medical Association. 262: 1980-1988. PMID 2778934 DOI: 10.1001/Jama.1989.03430140098032  1
1989 McCormick MK, Shero JH, Cheung MC, Kan YW, Hieter PA, Antonarakis SE. Construction of human chromosome 21-specific yeast artificial chromosomes Proceedings of the National Academy of Sciences of the United States of America. 86: 9991-9995. PMID 2690083 DOI: 10.1073/pnas.86.24.9991  1
1989 Wong C, Kazazian HH, Stetten G, Earnshaw WC, Van Keuren ML, Antonarakis SE. Molecular mechanism in the formation of a human ring chromosome 21. Proceedings of the National Academy of Sciences of the United States of America. 86: 1914-8. PMID 2648387 DOI: 10.1073/Pnas.86.6.1914  0.88
1989 Warren AC, Slaugenhaupt SA, Lewis JG, Chakravarti A, Antonarakis SE. A genetic linkage map of 17 markers on human chromosome 21 Genomics. 4: 579-591. PMID 2568330 DOI: 10.1016/0888-7543(89)90282-6  1
1989 McCormick MK, Schinzel A, Petersen MB, Stetten G, Driscoll DJ, Cantu ES, Tranebjaerg L, Mikkelsen M, Watkins PC, Antonarakis SE. Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics. 5: 325-331. PMID 2529205 DOI: 10.1016/0888-7543(89)90065-7  0.36
1989 Arai M, Inaba H, Higuchi M, Antonarakis SE, Kazazian H, Fujimaki M, Hoyer LW. Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). Proceedings of the National Academy of Sciences of the United States of America. 86: 4277-4281. PMID 2498882 DOI: 10.1073/Pnas.86.11.4277  0.56
1989 Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH, Antonarakis SE. 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. Genomics. 4: 290-6. PMID 2497061 DOI: 10.1016/0888-7543(89)90332-7  1
1989 Inaba H, Fujimaki M, Kazazian HH, Antonarakis SE. Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. Human Genetics. 81: 335-338. PMID 2495245 DOI: 10.1007/Bf00283686  0.88
1988 Huang S, Waber PG, Dowling CE, Wong C, Antonarakis SE, Cai RL, Wang MQ, Lo WHY, Kazazian H. Beta-thalassemia in China: a systematic molecular characterization of beta-thalassemia mutations. Hemoglobin. 12: 621-628. PMID 3209404 DOI: 10.3109/03630268808991653  0.6
1988 Youssoufian H, Kasper CK, Phillips DG, Kazazian HH, Antonarakis SE. Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A. Human Genetics. 80: 143-148. PMID 3139545 DOI: 10.1007/Bf00702857  0.88
1988 Antonarakis SE, Oettgen P, Chakravarti A, Halloran SL, Hudson RR, Feisee L, Karathanasis SK. DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster Human Genetics. 80: 265-273. PMID 2903847 DOI: 10.1007/Bf01790095  1
1988 Warren AC, Groner Y, Antonarakis SE. A DNA polymorphism with kpni of the human liver-type phosphofructokinase (PFKL) gene Nucleic Acids Research. 16: 9060. PMID 2902561 DOI: 10.1093/Nar/16.18.9060  1
1988 Youssoufian H, Kazazian HH, Patel A, Aronis S, Tsiftis G, Hoyer LW, Antonarakis SE. Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene. Genomics. 2: 32-36. PMID 2838411 DOI: 10.1016/0888-7543(88)90106-1  0.88
1988 Kazazian HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature. 332: 164-6. PMID 2831458 DOI: 10.1038/332164A0  1
1988 Ma YH, Ladias JA, Bütler R, Schumaker VN, Antonarakis SE, Lusis AJ, Heinzman C, Kwiterovich PO. Apolipoprotein B gene haplotypes. Association between Ag and DNA polymorphisms. Arteriosclerosis (Dallas, Tex.). 8: 521-4. PMID 2461193 DOI: 10.1161/01.Atv.8.5.521  1
1988 Heinzmann C, Ladias J, Antonarakis S, Diep A, Schotz M, Lusis AJ. Two polymorphisms for the human hepatic lipase (HL) gene Nucleic Acids Research. 16: 4739. PMID 2454457 DOI: 10.1093/Nar/16.10.4739  1
1987 Meyers DA, Beaty TH, Maestri NE, Kittur SD, Antonarakis SE, Kazazian HH. Multipoint mapping studies of six loci on chromosome 11 Human Heredity. 37: 94-101. PMID 3294571 DOI: 10.1159/000153683  1
1987 Youssoufian H, Antonarakis SE, Aronis S, Tsiftis G, Phillips DG, Kazazian HH. Characterization of five partial deletions of the factor VIII gene Proceedings of the National Academy of Sciences of the United States of America. 84: 3772-3776. PMID 3035554 DOI: 10.1073/Pnas.84.11.3772  0.88
1987 Warren AC, Robakis NK, Ramakrishna N, Koo EH, Ross CA, Robb AS, Folstein MF, Price DL, Antonarakis SE. beta-Amyloid gene is not present in three copies in autopsy-validated Alzheimer's disease. Genomics. 1: 307-12. PMID 2966761 DOI: 10.1016/0888-7543(87)90029-2  1
1987 Warren AC, Chakravarti A, Wong C, Slaugenhaupt SA, Halloran SL, Watkins PC, Metaxotou C, Antonarakis SE. Evidence for reduced recombination on the nondisjoined chromosomes 21 in down syndrome Science. 237: 652-654. PMID 2955519 DOI: 10.1126/Science.2955519  1
1987 Semenza GL, Ladias JA, Antonarakis SE. An Xba I polymorphism 3' to the human erythropoietin (EPO) gene. Nucleic Acids Research. 15: 6768. PMID 2888094 DOI: 10.1093/Nar/15.16.6768  0.6
1987 Heinzmann C, Ladias J, Antonarakis S, Kirchgessner T, Schotz M, Lusis AJ. RFLP for the human lipoprotein lipase (LPL) gene: HindIII Nucleic Acids Research. 15: 6763. PMID 2888089 DOI: 10.1093/Nar/15.16.6763  1
1987 Youssoufian H, Phillips DG, Kazazian HH, Antonarakis SE. Mspl polymorphism in the 3′ flanking region of the human factor VIII gene Nucleic Acids Research. 15: 6312-6312. PMID 2888084 DOI: 10.1093/Nar/15.15.6312  0.88
1987 Anagnou NP, Antonarakis SE, O'Brien SJ, Nienhuis AW. A novel form of human polymorphism involving the hDHFR-ψ1 pseudogene identifies three RFLPs Nucleic Acids Research. 15: 5501. PMID 2885811 DOI: 10.1093/Nar/15.13.5501  1
1987 Atweh GF, Wong C, Reed R, Antonarakis SE, Zhu D, Ghosh PK, Maniatis T, Forget BG, Kazazian HH. A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. Blood. 70: 147-51. PMID 2439149  1
1987 Youssoufian H, Patel A, Phillips D, Kazazian HH, Antonarakis SE. Hemophilia A: Recurrent Mutations And An Unusual Deletion Pediatric Research. 21: 296-296. DOI: 10.1203/00006450-198704010-00771  0.88
1986 Meyers DA, Beaty TH, Antonarakis SE. Genetic analysis workshop IV: The 11P data sets Genetic Epidemiology. 3: 95-97. PMID 3471675  1
1986 Wong C, Antonarakis SE, Goff SC, Orkin SH, Boehm CD, Kazazian HH. On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups. Proceedings of the National Academy of Sciences of the United States of America. 83: 6529-32. PMID 3462712 DOI: 10.1073/Pnas.83.17.6529  0.88
1986 Kazazian H, Antonarakis SE, Youssoufian H, Dowling CE, Phillips DG, Wong C, Boehm CD. Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene. Cold Spring Harbor Symposia On Quantitative Biology. 51: 371-379. PMID 3107876 DOI: 10.1101/Sqb.1986.051.01.045  0.64
1986 Youssoufian H, Kazazian HH, Phillips DG, Aronis S, Tsiftis G, Brown VA, Antonarakis SE. Recurrent mutations in haemophilia a give evidence for CpG mutation hotspots Nature. 324: 380-382. PMID 3097553 DOI: 10.1038/324380A0  1
1986 Antonarakis SE, Chakravarti A, Warren AC, Slaugenhaupt SA, Wong C, Halloran SL, Metaxotou C. Reduced recombination rate on chromosomes 21 that have undergone nondisjunction Cold Spring Harbor Symposia On Quantitative Biology. 51: 185-190. PMID 3034482 DOI: 10.1101/Sqb.1986.051.01.022  1
1986 Huang S, Wong C, Antonarakis SE, Ro-lien T, Lo WHY, Kazazian HH. The same "TATA" box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation Human Genetics. 74: 162-164. PMID 3021607 DOI: 10.1007/Bf00282081  0.88
1986 Cohen T, Karathanasis SK, Kazazian H, Antonarakis SE. DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I. Nucleic Acids Research. 14: 1924-1924. PMID 3005989 DOI: 10.1093/Nar/14.4.1924  0.56
1986 Janco RL, Phillips JA, Orlando P, Davies KE, Old J, Antonarakis SE. Carrier Testing Strategy In Haemophilia A The Lancet. 327: 148-149. PMID 2867360 DOI: 10.1016/S0140-6736(86)92279-8  0.4
1985 Chaganti RS, Jhanwar SC, Antonarakis SE, Hayward WS. Germ-line chromosomal localization of genes in chromosome 11p linkage: parathyroid hormone, beta-globin, c-Ha-ras-1, and insulin. Somatic Cell and Molecular Genetics. 11: 197-202. PMID 3885418 DOI: 10.1007/BF01534708  1
1985 Antonarakis SE, Kazazian HH, Orkin SH. DNA polymorphism and molecular pathology of the human globin gene clusters Human Genetics. 69: 1-14. PMID 3881334 DOI: 10.1007/Bf00295521  1
1985 Antonarakis SE, Waber PG, Kittur SD, Patel AS, Kazazian H, Mellis MA, Counts RB, Stamatoyannopoulos G, Bowie EJ, Fass DN. Hemophilia A Detection of Molecular Defects and of Carriers by DNA Analysis The New England Journal of Medicine. 313: 842-848. PMID 2993888 DOI: 10.1056/Nejm198510033131402  0.56
1985 Kittur SD, Hoppener JW, Antonarakis SE, Daniels JD, Meyers DA, Maestri NE, Jansen M, Korneluk RG, Nelkin BD, Kazazian HH. Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II. Proceedings of the National Academy of Sciences of the United States of America. 82: 5064-7. PMID 2991908 DOI: 10.1073/Pnas.82.15.5064  1
1985 ANTONARAKIS SE, KITTUR SD, METAXOTOU C, BARTSOCAS C, KITSIOU S, WATKINS PC, PATEL AS, WARREN AC, GUSELLA JF, GRONER Y, CHAKRAVARTI A, MEYERS DA, KAZAZIAN HH. Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21 Annals of the New York Academy of Sciences. 450: 95-107. PMID 2990311 DOI: 10.1111/J.1749-6632.1985.Tb21486.X  1
1985 Antonarakis SE, Copeland KL, Carpenter RJ, Carta CA, Hoyer LW, Caskey CT, Toole JJ, Kazazian HH. Prenatal diagnosis of haemophilia A by factor VIII gene analysis. Lancet. 1: 1407-9. PMID 2861360 DOI: 10.1016/S0140-6736(85)91842-2  0.88
1985 Noguchi CT, Dover GJ, Rodgers GP, Serjeant GR, Antonarakis SE, Anagnou NP, Higgs DR, Weatherall DJ, Schechter AN. Alpha thalassemia changes erythrocyte heterogeneity in sickle cell disease Journal of Clinical Investigation. 75: 1632-1637. PMID 2581999 DOI: 10.1172/Jci111870  1
1985 Antonarakis SE, Kittur SD, Metaxotou C, Patel AS, Watkins PE, Kazazian HH. 800 Anaixsis Of Dna Haplotypes Suggests A Genetic Predisposition To Trisomy 21 Associated With Dna Sequences On Chromosome 21 Pediatric Research. 19: 244-244. DOI: 10.1203/00006450-198504000-00830  0.88
1985 Orkin SH, Cheng T, Antonarakis SE, Kazazian HH. Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. The Embo Journal. 4: 453-456. DOI: 10.1002/J.1460-2075.1985.Tb03650.X  0.88
1984 Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, Giardina PJ, Li A, Kazazian HH. beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proceedings of the National Academy of Sciences of the United States of America. 81: 2821-5. PMID 6585831 DOI: 10.1073/Pnas.81.9.2821  1
1984 Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH. beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site. Proceedings of the National Academy of Sciences of the United States of America. 81: 1154-8. PMID 6583702 DOI: 10.1073/Pnas.81.4.1154  1
1984 Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH. Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proceedings of the National Academy of Sciences of the United States of America. 81: 853-856. PMID 6583683 DOI: 10.1073/Pnas.81.3.853  0.88
1984 Hutz MH, Michelson AM, Antonarakis SE, Orkin SH, Kazazian H. Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome Human Genetics. 66: 217-219. PMID 6325324 DOI: 10.1007/Bf00286604  0.56
1984 Weinberg R, Antonarakis S, Kazazian H, Dover G, Orkin S, Lenes A, Schofield J, Alter B. Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia. Blood. 63: 1278-1284. DOI: 10.1182/Blood.V63.6.1278.1278  0.56
1984 Kazazian HH, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG. Molecular characterization of seven beta-thalassemia mutations in Asian Indians The Embo Journal. 3: 593-596. DOI: 10.1002/J.1460-2075.1984.Tb01853.X  0.88
1983 Prochownik EV, Antonarakis S, Bauer KA, Rosenberg RD, Fearon ER, Orkin SH. Molecular heterogeneity of inherited antithrombin III deficiency. The New England Journal of Medicine. 308: 1549-52. PMID 6304514 DOI: 10.1056/Nejm198306303082601  1
1983 Boehm CD, Antonarakis SE, Phillips JA, Stetten G, Kazazian HH. Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. The New England Journal of Medicine. 308: 1054-1058. PMID 6300677 DOI: 10.1056/Nejm198305053081803  0.88
1982 Orkin SH, Kazazian HH, Antonarakis SE, Ostrer H, Goff SC, Sexton JP. Abnormal RNA processing due to the exon mutation of beta E-globin gene. Nature. 300: 768-9. PMID 7177196 DOI: 10.1038/300768A0  1
1982 Antonarakis SE, Orkin SH, Kazazian HH, Goff SC, Boehm CD, Waber PG, Sexton JP, Ostrer H, Fairbanks VF, Chakravarti A. Evidence for multiple origins of the beta E-globin gene in Southeast Asia. Proceedings of the National Academy of Sciences of the United States of America. 79: 6608-11. PMID 6292908 DOI: 10.1073/Pnas.79.21.6608  1
1982 Antonarakis SE, Phillips JA, Kazazian HH. Genetic diseases: Diagnosis by restriction endonuclease analysis* The Journal of Pediatrics. 100: 845-856. PMID 6283049 DOI: 10.1016/S0022-3476(82)80500-3  0.88
1982 Orkin SH, Kazazian HH, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJ. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 296: 627-31. PMID 6280057 DOI: 10.1038/296627A0  1
1982 Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH. Nonrandom association of polymorphic restriction sites in the β-globin gene cluster Proceedings of the National Academy of Sciences of the United States of America. 79: 137-141. PMID 6275383 DOI: 10.1073/Pnas.79.1.137  0.88
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