Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Wang, Tianyun; Hoekzema, Kendra; Vecchio, Davide; Wu, Huidan; Sulovari, Arvis; P. Coe, Bradley; A. Gillentine, Madelyn; B. Wilfert, Amy; A. Pérez‐Jurado, Luis; Kvarnung, Malin; Sleyp, Yoeri; K. Earl, Rachel; A. Rosenfeld, Jill; R. Geisheker, Madeleine; Han, Lin; Du, Bing; Barnett, Chris; A. Thompson, E.; Shaw, Marie; Carroll, Renée; Friend, Kathryn; Catford, Rachael; E. Palmer, Elizabeth; Zou, Xiaobing; Ou, Jianjun; Li, Honghui; Guo, Hui; Gerdts, Jennifer; Avola, Emanuela; Calabrese, Giuseppe; Elia, Maurizio; Greco, Donatella; Lindstrand, Anna; Nordgren, Ann; Anderlid, Britt‐Marie; Vandeweyer, Geert; Van Dijck, Anke; Van der Aa, Nathalie; G. McKenna, Brooke; Hančárová, Miroslava; Bendová, Šárka; Havlovicová, Markéta; Malerba, Giovanni; Dalla Bernardina, Bernardo; Muglia, Pierandrea; van Haeringen, Arie; J.V. Hoffer, Mariëtte; Franke, Barbara; Cappuccio, Gerarda; B. Delatycki, Martin; J. Lockhart, Paul; A. Manning, Melanie; Liu, Pengfei; E. Scheffer, Ingrid; Brunetti‐Pierri, Nicola; Rommelse, Nanda; G. Amaral, David; W.E. Santen, Gijs; Trabetti, Elisabetta; Sedláček, Zdeněk; J. Michaelson, Jacob; Pierce, Karen; Courchesne, Eric; Frank Kooy, R.; Acampado, John; J. Ace, Andrea; Amatya, Alpha; Astrovskaya, Irina; Bashar, Asif; Brooks, Elizabeth; E. Butler, Martin; A. Cartner, Lindsey; Chin, Wubin; K. Chung, Wendy; M. Daniels, Amy; Feliciano, Pamela; Fleisch, Chris; Ganesan, Swami; B. Jensen, William; Lash, Alex; P. Marini, Richard; J. Myers, Vincent; O’Connor, Eirene; Rigby, Chris; E. Robertson, B.; Shah, Neelay; Shah, Swapnil; Singer, Emily; Green Snyder, LeeAnne; N. Stephens, Alexandra; Tjernagel, Jennifer; M. Vernoia, Brianna; Volfovsky, Natalia; Casey White, L.; Hsieh, Alexander; Shen, Yufeng; Zhou, Xueya; N. Turner, Tychele; Bahl, Ethan; Thomas, Taylor; Brueggeman, Leo; Koomar, Tanner; J. Michaelson, Jacob; J. O’Roak, Brian; Barnard, Rebecca; A. Gibbs, Richard; M. Muzny, Donna; Sabo, Aniko; L. Baalman Ahmed, Kelli; E. Eichler, Evan; Siegel, Matthew; Abbeduto, Leonard; G. Amaral, David; A. Hilscher, Brittani; Li, Deana; Smith, Kaitlin; Thompson, Samantha; F. Albright, Charles; Butter, Eric; Eldred, Sara; Hanna, Nathan; Jones, Mark; L. Coury, Daniel; Scherr, Jessica; Pifher, Taylor; Roby, Erin; Dennis, Brandy; Higgins, Lorrin; A. Brown, Melissa; Alessandri, Michael; Gutierrez, Anibal; N. Hale, Melissa; M. Herbert, Lynette; Lam Schneider, Hoa; David, Giancarla; D. Annett, Robert; E. Sarver, Dustin; Arriaga, Ivette; Camba, Alexies; C. Gulsrud, Amanda; Haley, Monica; T. McCracken, James; Sandhu, Sophia; Tafolla, Maira; S. Yang, Wha; A. Carpenter, Laura; C. Bradley, Catherine; Gwynette, Frampton; Manning, Patricia; C. Shaffer, Rebecca; A. Thomas, Carrie; Bernier, Raphael; A. Fox, Emily; A. Gerdts, Jennifer; Pepper, Micah; Ho, Theodore; Cho, Daniel; Piven, Joseph; Lechniak, Holly; Soorya, Latha; Gordon, Rachel; Wainer, Allison; C. Yeh, Lisa; Ochoa-Lubinoff, Cesar; M. Russo‐Ponsaran, Nicole; Berry‐Kravis, Elizabeth; Booker, Stephanie; A. Erickson, Craig; M. Prock, Lisa; G. Pawlowski, Katherine; T. Matthews, Emily; Brewster, Stephanie; A. Hojlo, Margaret; Abada, Evi; Lamarche, Elena; Wang, Tianyun; C. Murali, Shwetha; T. Harvey, William; E. Kaplan, Hannah; Pierce, Karen; DeMarco, Lindsey; Horner, Susannah; Pandey, Juhi; Plate, Samantha; Şahin, Mustafa; D. Riley, Katherine; Carmody, Erin; Constantini, Julia; Esler, Amy; Fatemi, Ali; Hutter, Hanna; Landa, Rebecca; P. McKenzie, Alexander; Neely, Jason; Singh, Vini; Van Metre, Bonnie; L. Wodka, Ericka; Fombonne, Éric; Y. Huang-Storms, Lark; D. Pacheco, Lillian; Mastel, Sarah; A. Coppola, Leigh; M. Francis, Sunday; Jarrett, Andrea; Jacob, Suma; Lillie, Natasha; Gunderson, Jaclyn; Istephanous, Dalia; Simon, Laura; Wasserberg, Ori; L. Rachubinski, Angela; Robinson Rosenberg, Cordelia; M. Kanne, Stephen; D. Shocklee, Amanda; Takahashi, Nicole; L. Bridwell, Shelby; L. Klimczac, Rebecca; A. Mahurin, Melissa; E. Cotrell, Hannah; A. Grant, Cortaiga; G. Hunter, Samantha; Lese Martin, Christa; Taylor, Cora; K. Walsh, Lauren; A. Dent, Katherine; L. Mason, Andrew; Sziklay, Anthony; J. Smith, Christopher; Nordenskjöld, Magnus; Romano, Corrado; Peeters, Hilde; Bernier, Raphael; Gécz, Jozef; Xia, Kun; E. Eichler, Evan

doi:10.1038/s41467-020-18723-y

Public

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Published in Nature Communications • Oct 1, 2020

Authors:

Tianyun Wang

Kendra Hoekzema

Davide Vecchio

Abstract

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By c...

Subject

Genetics

Gene

CTCF

Research Assistant

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