Dworschak, Gabriel C. http://orcid.org/0000-0003-0015-6964
Punetha, Jaya
Kalanithy, Jeshurun C.
Mingardo, Enrico
Erdem, Haktan B.
Akdemir, Zeynep C.
Karaca, Ender
Mitani, Tadahiro
Marafi, Dana
Fatih, Jawid M.
Jhangiani, Shalini N.
Hunter, Jill V.
Dakal, Tikam Chand
Dhabhai, Bhanupriya
Dabbagh, Omar
Alsaif, Hessa S.
Alkuraya, Fowzan S.
Maroofian, Reza
Houlden, Henry
Efthymiou, Stephanie
Dominik, Natalia
Salpietro, Vincenzo
Sultan, Tipu
Haider, Shahzad
Bibi, Farah
Thiele, Holger
Hoefele, Julia
Riedhammer, Korbinian M.
Wagner, Matias
Guella, Ilaria
Demos, Michelle
Keren, Boris
Buratti, Julien
Charles, Perrine
Nava, Caroline
Héron, Delphine
Heide, Solveig
Valkanas, Elise
Waddell, Leigh B.
Jones, Kristi J.
Oates, Emily C.
Cooper, Sandra T.
MacArthur, Daniel
Syrbe, Steffen
Ziegler, Andreas
Platzer, Konrad
Okur, Volkan
Chung, Wendy K.
O’Shea, Sarah A.
Alcalay, Roy
Fahn, Stanley
Mark, Paul R.
Guerrini, Renzo
Vetro, Annalisa
Hudson, Beth
Schnur, Rhonda E.
Hoganson, George E.
Burton, Jennifer E.
McEntagart, Meriel
Lindenberg, Tobias
Yilmaz, Öznur
Odermatt, Benjamin
Pehlivan, Davut
Posey, Jennifer E.
Lupski, James R.
Reutter, Heiko
Funding for this research was provided by:
Deutsche Forschungsgemeinschaft (RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1, RE 1723/5-1)
This article is maintained by: Elsevier
Article Title: Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-021-01196-9
Content Type: article
Copyright: © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics