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1.

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

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P.

Am J Hum Genet; 110(2): 215-227, 2023 02 02.

Artículo en Inglés | MEDLINE | ID: mdl-36586412

2.

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

Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M R; Sullivan, Jennifer A; Asleh, Ayat N; Mitra, Jaba; Dar, Mohamad A; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R; Littlejohn, Rebecca Okashah; Dibra, Harpreet K; Byrd, Philip J; Stewart, Grant S; Geckinli, Bilgen B; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E; O'Donnell-Luria, Anne; Mau-Them, Frédéric Tran; Juven, Aurélien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F; Thauvin, Christel; Essien Umanah, George K; Van Maldergem, Lionel; Lupski, James R; Roscioli, Tony; Dawson, Valina L; Dawson, Ted M; Antonarakis, Stylianos E.

Am J Hum Genet; 110(3): 499-515, 2023 03 02.

Artículo en Inglés | MEDLINE | ID: mdl-36724785

3.

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

Cediel, Maria Lucia; Stawarski, Michal; Blanc, Xavier; Nosková, Lenka; Magner, Martin; Platzer, Konrad; Gburek-Augustat, Janina; Baldridge, Dustin; Constantino, John N; Ranza, Emmanuelle; Bettler, Bernhard; Antonarakis, Stylianos E.

Am J Hum Genet; 109(10): 1885-1893, 2022 10 06.

Artículo en Inglés | MEDLINE | ID: mdl-36103875

4.

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

Antonarakis, Stylianos E.

Genome Res; 32(4): 599-607, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-35361624

5.

Carrier screening for recessive disorders.

Antonarakis, Stylianos E.

Nat Rev Genet; 20(9): 549-561, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31142809

6.

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.

Rapti, Melivoia; Zouaghi, Yassine; Meylan, Jenny; Ranza, Emmanuelle; Antonarakis, Stylianos E; Santoni, Federico A.

Brief Bioinform; 23(2)2022 03 10.

Artículo en Inglés | MEDLINE | ID: mdl-35224620

7.

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

Antonarakis, Stylianos E; Holoubek, Ales; Rapti, Melivoia; Rademaker, Jesse; Meylan, Jenny; Iwaszkiewicz, Justyna; Zoete, Vincent; Wilson, Callum; Taylor, Juliet; Ansar, Muhammad; Borel, Christelle; Menzel, Olivier; Kuzelová, Katerina; Santoni, Federico A.

Hum Mol Genet; 31(1): 1-9, 2021 12 17.

Artículo en Inglés | MEDLINE | ID: mdl-33693784

8.

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

Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Alasiri, Rami; Bottani, Armand; Hanquinet, Sylviane; Beaver, Erin; Heeley, Jennifer; Smith, Ann C M; Berger, Seth I; Antonarakis, Stylianos E; Yang, Xiang-Jiao; Côté, Jacques; Campeau, Philippe M.

Am J Hum Genet; 107(3): 564-574, 2020 09 03.

Artículo en Inglés | MEDLINE | ID: mdl-32822602

9.

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.

Mattioli, Francesca; Worpenberg, Lina; Li, Cai-Tao; Ibrahim, Nazia; Naz, Shagufta; Sharif, Saima; Firouzabadi, Saghar G; Vosoogh, Shohreh; Saraeva-Lamri, Radoslava; Raymond, Laure; Trujillo, Carlos; Guex, Nicolas; Antonarakis, Stylianos E; Ansar, Muhammad; Darvish, Hossein; Liu, Ru-Juan; Roignant, Jean-Yves; Reymond, Alexandre.

Genet Med; 25(9): 100900, 2023 09.

Artículo en Inglés | MEDLINE | ID: mdl-37226891

10.

Down syndrome and the complexity of genome dosage imbalance.

Antonarakis, Stylianos E.

Nat Rev Genet; 18(3): 147-163, 2017 03.

Artículo en Inglés | MEDLINE | ID: mdl-28029161

11.

Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

Ansar, Muhammad; Ebstein, Frédéric; Özkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E.

Hum Mol Genet; 29(7): 1132-1143, 2020 05 08.

Artículo en Inglés | MEDLINE | ID: mdl-32129449

12.

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

Ansar, Muhammad; Ranza, Emmanuelle; Shetty, Madhur; Paracha, Sohail A; Azam, Maleeha; Kern, Ilse; Iwaszkiewicz, Justyna; Farooq, Omer; Pournaras, Constantin J; Malcles, Ariane; Kecik, Mateusz; Rivolta, Carlo; Muzaffar, Waqar; Qurban, Aziz; Ali, Liaqat; Aggoun, Yacine; Santoni, Federico A; Makrythanasis, Periklis; Ahmed, Jawad; Qamar, Raheel; Sarwar, Muhammad T; Henry, L Keith; Antonarakis, Stylianos E.

Hum Mol Genet; 29(4): 618-623, 2020 03 13.

Artículo en Inglés | MEDLINE | ID: mdl-31903486

13.

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

Ansar, Muhammad; Ullah, Farid; Paracha, Sohail A; Adams, Darius J; Lai, Abbe; Pais, Lynn; Iwaszkiewicz, Justyna; Millan, Francisca; Sarwar, Muhammad T; Agha, Zehra; Shah, Sayyed Fahim; Qaisar, Azhar Ali; Falconnet, Emilie; Zoete, Vincent; Ranza, Emmanuelle; Makrythanasis, Periklis; Santoni, Federico A; Ahmed, Jawad; Katsanis, Nicholas; Walsh, Christopher; Davis, Erica E; Antonarakis, Stylianos E.

Am J Hum Genet; 104(6): 1073-1087, 2019 06 06.

Artículo en Inglés | MEDLINE | ID: mdl-31079899

14.

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

Ansar, Muhammad; Chung, Hyung-Lok; Al-Otaibi, Ali; Elagabani, Mohammad Nael; Ravenscroft, Thomas A; Paracha, Sohail A; Scholz, Ralf; Abdel Magid, Tayseer; Sarwar, Muhammad T; Shah, Sayyed Fahim; Qaisar, Azhar Ali; Makrythanasis, Periklis; Marcogliese, Paul C; Kamsteeg, Erik-Jan; Falconnet, Emilie; Ranza, Emmanuelle; Santoni, Federico A; Aldhalaan, Hesham; Al-Asmari, Ali; Faqeih, Eissa Ali; Ahmed, Jawad; Kornau, Hans-Christian; Bellen, Hugo J; Antonarakis, Stylianos E.

Am J Hum Genet; 105(5): 907-920, 2019 11 07.

Artículo en Inglés | MEDLINE | ID: mdl-31607425

15.

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

Meuwissen, Marije; Verstraeten, Aline; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Bastiaansen, Maaike; Mateiu, Ligia; Nemegeer, Merlijn; Meester, Josephina A N; Afenjar, Alexandra; Amaral, Michelle; Ballhausen, Diana; Barnett, Sarah; Barth, Magalie; Asselbergh, Bob; Spaas, Katrien; Heeman, Bavo; Bassetti, Jennifer; Blackburn, Patrick; Schaer, Marie; Blanc, Xavier; Zoete, Vincent; Casas, Kari; Courtin, Thomas; Doummar, Diane; Guerry, Frédéric; Keren, Boris; Pappas, John; Rabin, Rachel; Begtrup, Amber; Shinawi, Marwan; Vulto-van Silfhout, Anneke T; Kleefstra, Tjitske; Wagner, Matias; Ziegler, Alban; Schaefer, Elise; Gerard, Benedicte; De Bie, Charlotte I; Holwerda, Sjoerd J B; Abbot, Mary Alice; Antonarakis, Stylianos E; Loeys, Bart.

Genet Med; 24(7): 1583-1591, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35499524

16.

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

Ma, Congcong; Chen, Na; Jolly, Angad; Zhao, Sen; Coban-Akdemir, Zeynep; Tian, Weijie; Kang, Jia; Ye, Yang; Wang, Yuan; Koch, André; Zhang, Yuanqiang; Qin, Chenglu; Bonilla, Ximena; Borel, Christelle; Rall, Katharina; Chen, Zefu; Jhangiani, Shalini; Niu, Yuchen; Li, Xiaoxin; Qiu, Guixing; Zhang, Shuyang; Luo, Guangnan; Wu, Zhihong; Bacopoulou, Flora; Deligeoroglou, Efthymios; Zhang, Terry Jianguo; Rosenberg, Carla; Gibbs, Richard A; Dietrich, Jennifer E; Dimas, Antigone S; Liu, Pengfei; Antonarakis, Stylianos E; Brucker, Sara Y; Posey, Jennifer E; Lupski, James R; Wu, Nan; Zhu, Lan.

Genet Med; 24(11): 2262-2273, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-36112137

17.

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

Taylor, Matthew R; Martin, E Anne; Sinnen, Brooke; Trilokekar, Rajdeep; Ranza, Emmanuelle; Antonarakis, Stylianos E; Williams, Megan E.

J Neurosci; 40(28): 5376-5388, 2020 07 08.

Artículo en Inglés | MEDLINE | ID: mdl-32503885

18.

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

Itai, Toshiyuki; Hamanaka, Kohei; Sasaki, Kazunori; Wagner, Matias; Kotzaeridou, Urania; Brösse, Ines; Ries, Markus; Kobayashi, Yu; Tohyama, Jun; Kato, Mitsuhiro; Ong, Winnie P; Chew, Hui B; Rethanavelu, Kavitha; Ranza, Emmanuelle; Blanc, Xavier; Uchiyama, Yuri; Tsuchida, Naomi; Fujita, Atsushi; Azuma, Yoshiteru; Koshimizu, Eriko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Takahashi, Hidehisa; Miyagi, Etsuko; Tsurusaki, Yoshinori; Doi, Hiroshi; Taguri, Masataka; Antonarakis, Stylianos E; Nakashima, Mitsuko; Saitsu, Hirotomo; Miyatake, Satoko; Matsumoto, Naomichi.

Hum Mutat; 42(1): 66-76, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-33131106

19.

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

Ansar, Muhammad; Paracha, Sohail Aziz; Serretti, Alessandro; Sarwar, Muhammad T; Khan, Jamshed; Ranza, Emmanuelle; Falconnet, Emilie; Iwaszkiewicz, Justyna; Shah, Sayyed Fahim; Qaisar, Azhar Ali; Santoni, Federico A; Zoete, Vincent; Megarbane, Andre; Ahmed, Jawad; Colombo, Roberto; Makrythanasis, Periklis; Antonarakis, Stylianos E.

Hum Mol Genet; 28(6): 972-979, 2019 03 15.

Artículo en Inglés | MEDLINE | ID: mdl-30481285

20.

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

Ansar, Muhammad; Chung, Hyung-Lok; Taylor, Rachel L; Nazir, Aamir; Imtiaz, Samina; Sarwar, Muhammad T; Manousopoulou, Alkistis; Makrythanasis, Periklis; Saeed, Sondas; Falconnet, Emilie; Guipponi, Michel; Pournaras, Constantin J; Ansari, Maqsood A; Ranza, Emmanuelle; Santoni, Federico A; Ahmed, Jawad; Shah, Inayat; Gul, Khitab; Black, Graeme Cm; Bellen, Hugo J; Antonarakis, Stylianos E.

Am J Hum Genet; 103(4): 568-578, 2018 10 04.

Artículo en Inglés | MEDLINE | ID: mdl-30290152

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

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

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

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

Carrier screening for recessive disorders.

CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applications.

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

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

Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.

Down syndrome and the complexity of genome dosage imbalance.

Biallelic variants in PSMB1 encoding the proteasome subunit ß6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

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

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

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

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

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

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

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

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

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