A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling ; Chan, Hiuling ; Pfliger, Jessica M. ; Rosenfeld, Jill A. ; Lerma, Vanesa C. ; Tran, Alyssa ; Longley, Megan A. ; Lewis, Richard A. ; Weisz-Hubshman, Monika ; Bekheirnia, Mir Reza ; Bekheirnia, Nasim ; Massingham, Lauren ; Zech, Michael ; Wagner, Matias ; Engels, Hartmut ; Cremer, Kirsten ; Mangold, Elisabeth ; Peters, Sophia ; Trautmann, Jessica ; Mester, Jessica L. ; Guillen Sacoto, Maria J. ; Person, Richard ; McDonnell, Pamela P. ; Cohen, Stacey R. ; Lusk, Laina ; Cohen, Ana S. A. ; Le Pichon, Jean-Baptiste ; Pastinen, Tomi ; Zhou, Dihong ; Engleman, Kendra ; Racine, Caroline ; Faivre, Laurence ; Moutton, Sébastien ; Denommé-Pichon, Anne-Sophie ; Koh, Hyun Yong ; Poduri, Annapurna ; Bolton, Jeffrey ; Knopp, Cordula^RWTH* ; Julia Suh, Dong Sun^RWTH* ; Maier, Andrea^RWTH* ; Toosi, Mehran Beiraghi ; Karimiani, Ehsan Ghayoor ; Maroofian, Reza ; Schaefer, Gerald Bradley ; Ramakumaran, Vijayalakshmi ; Vasudevan, Pradeep ; Prasad, Chitra ; Osmond, Matthew ; Schuhmann, Sarah ; Vasileiou, Georgia ; Russ-Hall, Sophie ; Scheffer, Ingrid E. ; Carvill, Gemma L. ; Mefford, Heather ; Undiagnosed Diseases Network (Collaboration author) ; Bacino, Carlos A. ; Lee, Brendan H. ; Chao, Hsiao-Tuan (Corresponding author) ; Acosta, Maria T. (Contributor) ; Adam, Margaret (Contributor) ; Adams, David R. (Contributor) ; Alvarez, Raquel L. (Contributor) ; Alvey, Justin (Contributor) ; Amendola, Laura (Contributor) ; Andrews, Ashley (Contributor) ; Ashley, Euan A. (Contributor) ; Bacino, Carlos A. (Contributor) ; Bademci, Guney (Contributor) ; Balasubramanyam, Ashok (Contributor) ; Baldridge, Dustin (Contributor) ; Bale, Jim (Contributor) ; Bamshad, Michael (Contributor) ; Barbouth, Deborah (Contributor) ; Bayrak-Toydemir, Pinar (Contributor) ; Beck, Anita (Contributor) ; Beggs, Alan H. (Contributor) ; Behrens, Edward (Contributor) ; Bejerano, Gill (Contributor) ; Bellen, Hugo J. (Contributor) ; Bennett, Jimmy (Contributor) ; Berg-Rood, Beverly (Contributor) ; Bernstein, Jonathan A. (Contributor) ; Berry, Gerard T. (Contributor) ; Bican, Anna (Contributor) ; Bivona, Stephanie (Contributor) ; Blue, Elizabeth (Contributor) ; Bohnsack, John (Contributor) ; Bonner, Devon (Contributor) ; Botto, Lorenzo (Contributor) ; Boyd, Brenna (Contributor) ; Briere, Lauren C. (Contributor) ; Brown, Gabrielle (Contributor) ; Burke, Elizabeth A. (Contributor) ; Burrage, Lindsay C. (Contributor) ; Butte, Manish J. (Contributor) ; Byers, Peter (Contributor) ; Byrd, William E. (Contributor) ; Carey, John (Contributor) ; Carrasquillo, Olveen (Contributor) ; Cassini, Thomas (Contributor) ; Chang, Ta Chen Peter (Contributor) ; Chanprasert, Sirisak (Contributor) ; Chao, Hsiao-Tuan (Contributor) ; Chinn, Ivan (Contributor) ; Clark, Gary D. (Contributor) ; Coakley, Terra R. (Contributor) ; Cobban, Laurel A. (Contributor) ; Cogan, Joy D. (Contributor) ; Coggins, Matthew (Contributor) ; Cole, F. Sessions (Contributor) ; Colley, Heather A. (Contributor) ; Cope, Heidi (Contributor) ; Corona, Rosario (Contributor) ; Craigen, William J. (Contributor) ; Crouse, Andrew B. (Contributor) ; Cunningham, Michael (Contributor) ; D'Souza, Precilla (Contributor) ; Dai, Hongzheng (Contributor) ; Dasari, Surendra (Contributor) ; Davis, Joie (Contributor) ; Dayal, Jyoti G. (Contributor) ; Dell'Angelica, Esteban C. (Contributor) ; Dipple, Katrina (Contributor) ; Doherty, Daniel (Contributor) ; Dorrani, Naghmeh (Contributor) ; Doss, Argenia L. (Contributor) ; Douine, Emilie D. (Contributor) ; Earl, Dawn (Contributor) ; Eckstein, David J. (Contributor) ; Emrick, Lisa T. (Contributor) ; Eng, Christine M. (Contributor) ; Falk, Marni (Contributor) ; Fieg, Elizabeth L. (Contributor) ; Fisher, Paul G. (Contributor) ; Fogel, Brent L. (Contributor) ; Forghani, Irman (Contributor) ; Gahl, William A. (Contributor) ; Glass, Ian (Contributor) ; Gochuico, Bernadette (Contributor) ; Goddard, Page C. (Contributor) ; Godfrey, Rena A. (Contributor) ; Golden-Grant, Katie (Contributor) ; Grajewski, Alana (Contributor) ; Hadley, Don (Contributor) ; Hahn, Sihoun (Contributor) ; Halley, Meghan C. (Contributor) ; Hamid, Rizwan (Contributor) ; Hassey, Kelly (Contributor) ; Hayes, Nichole (Contributor) ; High, Frances (Contributor) ; Hing, Anne (Contributor) ; Hisama, Fuki M. (Contributor) ; Holm, Ingrid A. (Contributor) ; Hom, Jason (Contributor) ; Horike-Pyne, Martha (Contributor) ; Huang, Alden (Contributor) ; Hutchison, Sarah (Contributor) ; Introne, Wendy (Contributor) ; Isasi, Rosario (Contributor) ; Izumi, Kosuke (Contributor) ; Jamal, Fariha (Contributor) ; Jarvik, Gail P. (Contributor) ; Jarvik, Jeffrey (Contributor) ; Jayadev, Suman (Contributor) ; Jean-Marie, Orpa (Contributor) ; Jobanputra, Vaidehi (Contributor) ; Karaviti, Lefkothea (Contributor) ; Ketkar, Shamika (Contributor) ; Kiley, Dana (Contributor) ; Kilich, Gonench (Contributor) ; Kobren, Shilpa N. (Contributor) ; Kohane, Isaac S. (Contributor) ; Kohler, Jennefer N. (Contributor) ; Korrick, Susan (Contributor) ; Kozuira, Mary (Contributor) ; Krakow, Deborah (Contributor) ; Krasnewich, Donna M. (Contributor) ; Kravets, Elijah (Contributor) ; Lalani, Seema R. (Contributor) ; Lam, Byron (Contributor) ; Lam, Christina (Contributor) ; Lanpher, Brendan C. (Contributor) ; Lanza, Ian R. (Contributor) ; LeBlanc, Kimberly (Contributor) ; Lee, Brendan H. (Contributor) ; Levitt, Roy (Contributor) ; Lewis, Richard A. (Contributor) ; Liu, Pengfei (Contributor) ; Liu, Xue Zhong (Contributor) ; Longo, Nicola (Contributor) ; Loo, Sandra K. (Contributor) ; Loscalzo, Joseph (Contributor) ; Maas, Richard L. (Contributor) ; Macnamara, Ellen F. (Contributor) ; MacRae, Calum A. (Contributor) ; Maduro, Valerie V. (Contributor) ; Maghiro, Audrey Stephannie (Contributor) ; Mahoney, Rachel (Contributor) ; Malicdan, May Christine V. (Contributor) ; Mamounas, Laura A. (Contributor) ; Manolio, Teri A. (Contributor) ; Mao, Rong (Contributor) ; Maravilla, Kenneth (Contributor) ; Marom, Ronit (Contributor) ; Marth, Gabor (Contributor) ; Martin, Beth A. (Contributor) ; Martin, Martin G. (Contributor) ; Martínez-Agosto, Julian A. (Contributor) ; Marwaha, Shruti (Contributor) ; McCauley, Jacob (Contributor) ; McConkie-Rosell, Allyn (Contributor) ; McCray, Alexa T. (Contributor) ; McGee, Elisabeth (Contributor) ; Mefford, Heather (Contributor) ; Merritt, J. Lawrence (Contributor) ; Might, Matthew (Contributor) ; Mirzaa, Ghayda (Contributor) ; Morava, Eva (Contributor) ; Moretti, Paolo (Contributor) ; Mulvihill, John (Contributor) ; Nakano-Okuno, Mariko (Contributor) ; Nelson, Stanley F. (Contributor) ; Newman, John H. (Contributor) ; Nicholas, Sarah K. (Contributor) ; Nickerson, Deborah (Contributor) ; Nieves-Rodriguez, Shirley (Contributor) ; Novacic, Donna (Contributor) ; Oglesbee, Devin (Contributor) ; Orengo, James P. (Contributor) ; Pace, Laura (Contributor) ; Pak, Stephen (Contributor) ; Pallais, J. Carl (Contributor) ; Palmer, Christina G. S. (Contributor) ; Papp, Jeanette C. (Contributor) ; Parker, Neil H. (Contributor) ; Phillips Iii, John A. (Contributor) ; Posey, Jennifer E. (Contributor) ; Potocki, Lorraine (Contributor) ; Pusey Swerdzewski, Barbara N. (Contributor) ; Quinlan, Aaron (Contributor) ; Rao, Deepak A. (Contributor) ; Raper, Anna (Contributor) ; Raskind, Wendy (Contributor) ; Renteria, Genecee (Contributor) ; Reuter, Chloe M. (Contributor) ; Rives, Lynette (Contributor) ; Robertson, Amy K. (Contributor) ; Rodan, Lance H. (Contributor) ; Rosenfeld, Jill A. (Contributor) ; Rosenwasser, Natalie (Contributor) ; Rossignol, Francis (Contributor) ; Ruzhnikov, Maura (Contributor) ; Sacco, Ralph (Contributor) ; Sampson, Jacinda B. (Contributor) ; Saporta, Mario (Contributor) ; Schaechter, Judy (Contributor) ; Schedl, Timothy (Contributor) ; Schoch, Kelly (Contributor) ; Scott, Daryl A. (Contributor) ; Scott, C. Ron (Contributor) ; Seto, Elaine (Contributor) ; Shashi, Vandana (Contributor) ; Shin, Jimann (Contributor) ; Silverman, Edwin K. (Contributor) ; Sinsheimer, Janet S. (Contributor) ; Sisco, Kathy (Contributor) ; Smith, Edward C. (Contributor) ; Smith, Kevin S. (Contributor) ; Solnica-Krezel, Lilianna (Contributor) ; Solomon, Ben (Contributor) ; Spillmann, Rebecca C. (Contributor) ; Stoler, Joan M. (Contributor) ; Sullivan, Kathleen (Contributor) ; Sullivan, Jennifer A. (Contributor) ; Sun, Angela (Contributor) ; Sutton, Shirley (Contributor) ; Sweetser, David A. (Contributor) ; Sybert, Virginia (Contributor) ; Tabor, Holly K. (Contributor) ; Tan, Queenie K.-G. (Contributor) ; Tan, Amelia L. M. (Contributor) ; Tarakad, Arjun (Contributor) ; Tekin, Mustafa (Contributor) ; Telischi, Fred (Contributor) ; Thorson, Willa (Contributor) ; Tifft, Cynthia J. (Contributor) ; Toro, Camilo (Contributor) ; Tran, Alyssa A. (Contributor) ; Ungar, Rachel A. (Contributor) ; Urv, Tiina K. (Contributor) ; Vanderver, Adeline (Contributor) ; Velinder, Matt (Contributor) ; Viskochil, Dave (Contributor) ; Vogel, Tiphanie P. (Contributor) ; Wahl, Colleen E. (Contributor) ; Walker, Melissa (Contributor) ; Wallace, Stephanie (Contributor) ; Walley, Nicole M. (Contributor) ; Wambach, Jennifer (Contributor) ; Wan, Jijun (Contributor) ; Wang, Lee-Kai (Contributor) ; Wangler, Michael F. (Contributor) ; Ward, Patricia A. (Contributor) ; Wegner, Daniel (Contributor) ; Weisz Hubshman, Monika (Contributor) ; Wener, Mark (Contributor) ; Wenger, Tara (Contributor) ; Westerfield, Monte (Contributor) ; Wheeler, Matthew T. (Contributor) ; Whitlock, Jordan (Contributor) ; Wolfe, Lynne A. (Contributor) ; Worley, Kim (Contributor) ; Xiao, Changrui (Contributor) ; Yamamoto, Shinya (Contributor) ; Yang, John (Contributor) ; Zhang, Zhe (Contributor) ; Zuchner, Stephan (Contributor)

In
The American journal of human genetics 111(1), Seiten/Artikel-Nr.:96-118

2024

ImpressumNew York, NY [u.a.] : Cell Press

ISSN1537-6605

Online
DOI: 10.1016/j.ajhg.2023.12.004
10.1016/j.ajhg.2023.12.004

Einrichtungen

1. Institut und Lehrstuhl für Humangenetik und Genommedizin (525000-2)
2. Lehr- und Forschungsgebiet Klinische Genomik (941120)
3. Klinik und Lehrstuhl für Neurologie (535000-2)

Dokumenttyp
Journal Article

Format
online, print

Sprache
English

Anmerkung
Peer reviewed article

Externe Identnummern
SCOPUS: SCOPUS:2-s2.0-85181848634
WOS Core Collection: WOS:001154201800001
PubMed: pmid:38181735

Interne Identnummern
RWTH-CONV-253504
Datensatz-ID: 1007150

Beteiligte Länder
Australia, Canada, France, Germany, Iran, UK, USA