A Syndromic Neurodevelopmental Disorder Caused by Rare Variants in PPFIA3

Authors

• 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
• Sébastien Moutton
• Anne-Sophie Denommé-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
• Undiagnosed Diseases Network
• Carlos A Bacino
• Brendan H Lee
• Hsiao-Tuan Chao 趙孝端

Language

English

Publication Date

6-6-2024

Journal

American Journal of Human Genetics

DOI

10.1016/j.ajhg.2024.04.022

PMID

38723631

PMCID

PMC11179399

PubMedCentral® Posted Date

5-8-2024

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

Recommended Citation

Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; et al., "A Syndromic Neurodevelopmental Disorder Caused by Rare Variants in PPFIA3" (2024). Faculty, Staff and Students Publications. 8582.
https://digitalcommons.library.tmc.edu/baylor_docs/8582