A Syndromic Neurodevelopmental Disorder Caused by Rare Variants in PPFIA3 (vol 111, Pg 96, 2024)
Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld,Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,Nasim Bekheirnia,Lauren Massingham,Michael Zech,Matias Wagner,Hartmut Engels,Kirsten Cremer,Elisabeth Mangold,Sophia Peters,Jessica Trautmann,Claudia Perne,Jessica L. Mester,Maria J. Guillen Sacoto,Richard Person,Pamela P. McDonnell,Stacey R. Cohen,Laina Lusk,Ana S. A. Cohen,Jean -Baptiste Le Pichon,Tomi Pastinen,Dihong Zhou,Kendra Engleman,Caroline Racine,Laurence Faivre,Sebastien Moutton,Anne -Sophie Denomme-Pichon,Hyun Yong Koh,Annapurna Poduri,Jeffrey Bolton,Cordula Knopp, Dong Sun Julia Suh,Andrea Maier,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani,Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran,Pradeep Vasudevan,Benito Banos-Pinero,Alistair T. Pagnamenta,Chitra Prasad,Matthew Osmond,Sarah Schuhmann,Georgia Vasileiou,Sophie Russ-Hall,Ingrid E. Scheffer,Gemma L. Carvill,Heather Mefford,Carlos A. Bacino,Brendan H. Lee,Hsiao-Tuan Chao AMERICAN JOURNAL OF HUMAN GENETICS（2024）
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