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%0 Journal Article
%A Paul, Maimuna S.
%A Michener, Sydney L.
%A Pan, Hongling
%A Chan, Hiuling
%A Pfliger, Jessica M.
%A Rosenfeld, Jill A.
%A Lerma, Vanesa C.
%A Tran, Alyssa
%A Longley, Megan A.
%A Lewis, Richard A.
%A Weisz-Hubshman, Monika
%A Bekheirnia, Mir Reza
%A Bekheirnia, Nasim
%A Massingham, Lauren
%A Zech, Michael
%A Wagner, Matias
%A Engels, Hartmut
%A Cremer, Kirsten
%A Mangold, Elisabeth
%A Peters, Sophia
%A Trautmann, Jessica
%A Perne, Claudia
%A Mester, Jessica L.
%A Guillen Sacoto, Maria J.
%A Person, Richard
%A McDonnell, Pamela P.
%A Cohen, Stacey R.
%A Lusk, Laina
%A Cohen, Ana S. A.
%A Le Pichon, Jean-Baptiste
%A Pastinen, Tomi
%A Zhou, Dihong
%A Engleman, Kendra
%A Racine, Caroline
%A Faivre, Laurence
%A Moutton, Sébastien
%A Denommé-Pichon, Anne-Sophie
%A Koh, Hyun Yong
%A Poduri, Annapurna
%A Bolton, Jeffrey
%A Knopp, Cordula
%A Julia Suh, Dong Sun
%A Maier, Andrea
%A Toosi, Mehran Beiraghi
%A Karimiani, Ehsan Ghayoor
%A Maroofian, Reza
%A Schaefer, Gerald Bradley
%A Ramakumaran, Vijayalakshmi
%A Vasudevan, Pradeep
%A Banos-Pinero, Benito
%A Pagnamenta, Alistair T.
%A Prasad, Chitra
%A Osmond, Matthew
%A Schuhmann, Sarah
%A Vasileiou, Georgia
%A Russ-Hall, Sophie
%A Scheffer, Ingrid E.
%A Carvill, Gemma L.
%A Mefford, Heather
%A Bacino, Carlos A.
%A Lee, Brendan H.
%A Chao, Hsiao-Tuan
%T A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
%J The American journal of human genetics
%V 111
%N 4
%@ 1537-6605
%C New York, NY [u.a.]
%I Cell Press
%M RWTH-CONV-253760
%P 805-805
%D 2024
%F PUB:(DE-HGF)1 ; PUB:(DE-HGF)16
%9 AbstractJournal Article
%U <Go to ISI:>//WOS:001226599000001
%$ pmid:38508193
%R 10.1016/j.ajhg.2024.03.009
%U https://publications.rwth-aachen.de/record/1007385