Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

A. Gillentine, Madelyn; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; N. Kim, Chang; B. A. De Vries, Bert; E. L. M. Vissers, Lisenka; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; A. Bacino, Carlos; Bhat, Gifty; Cobian, Katherine; M. Bird, Lynne; Friedman, Jennifer; S. Wright, Meredith; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; K. Christensen, Celenie; M. White, Kerry; Elpeleg, Orly; Berger, Itai; J. Espineli, Edward; Fagerberg, Christina; Brasch-Andersen, Charlotte; Kjærsgaard Hansen, Lars; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Study, CAUSES; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Manace Benman, L.; Mckee, Shane; M. Mirzaa, Ghayda; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; E. H. Simon, Marleen; L. I. van Gassen, Koen; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Valenzuela Palafoll, Irene; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Consortium, SPARK; 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; Jensen, William; E. Lash, Alex; Marini, Richard; J. Myers, Vincent; O’Connor, Eirene; Rigby, Chris; E. Robertson, Beverly; Shah, Neelay; Shah, Swapnil; Singer, Emily; Anne G. Snyder, Lee; N. Stephens, Alexandra; Tjernagel, Jennifer; M. Vernoia, Brianna; Volfovsky, Natalia; Casey White, Loran; Hsieh, Alexander; Shen, Yufeng; Zhou, Xueya; N. Turner, Tychele; Bahl, Ethan; R. Thomas, Taylor; Brueggeman, Leo; Koomar, Tanner; J. Michaelson, Jacob; J. O’Roak, Brian; A. Barnard, Rebecca; A. Gibbs, Richard; 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; Albright, Charles; M. Butter, Eric; Eldred, Sara; Hanna, Nathan; Jones, Mark; Lee Coury, Daniel; Scherr, Jessica; Pifher, Taylor; Roby, Erin; Dennis, Brandy; Higgins, Lorrin; 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; Shaffer, Rebecca; Thomas, Carrie; A. Bernier, Raphael; A. Fox, Emily; A. Gerdts, Jennifer; Pepper, Micah; Ho, Theodore; Cho, Daniel; Piven, Joseph; Lechniak, Holly; V. Soorya, Latha; Gordon, Rachel; Wainer, Allison; Yeh, Lisa; Ochoa-Lubinoff, Cesar; Russo, Nicole; Berry-Kravis, Elizabeth; Booker, Stephanie; A. Erickson, Craig

doi:10.1186/s13073-021-00870-6

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Shared by NobleBlocks on Apr 19, 2021 • 12:00 AM UTC

Authors:

Madelyn A. Gillentine

Tianyun Wang

Kendra Hoekzema

Abstract

Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlations, with clinical characterization remaining a bottle...

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