Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Stegmann, J. D., Kalanithy, J. C., Dworschak, G. C., Ishorst, N., Mingardo, E., Lopes, F. M., Ho, Y. M., Grote, P., Lindenberg, T. T., Yilmaz, Ö., Channab, K., Seltzsam, S., Shril, S., Hildebrandt, F., Boschann, F., Heinen, A., Jolly, A., Myers, K., … McBride, K. (2024). Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. Npj Genomic Medicine, 9(1). https://doi.org/10.1038/s41525-024-00398-9
Authors:
Jil D Stegmann
Jeshurun C Kalanithy
Gabriel C Dworschak
Nina Ishorst
Enrico Mingardo
Filipa M Lopes
Yee Mang Ho
Phillip Grote
Tobias T Lindenberg
Öznur Yilmaz
Khadija Channab
Steve Seltzsam
Shirlee Shril
Friedhelm Hildebrandt
Felix Boschann
André Heinen
Angad Jolly
Katherine Myers
Kim McBride
Mir Reza Bekheirnia
Nasim Bekheirnia
Marcello Scala
Manuela Morleo
Vincenzo Nigro
Annalaura Torella
Michele Pinelli
Valeria Capra
Andrea Accogli
Silvia Maitz
Alice Spano
Rory J Olson
Eric W Klee
Brendan C Lanpher
Se Song Jang
Jong-Hee Chae
Philipp Steinbauer
Dietmar Rieder
Andreas R Janecke
Julia Vodopiutz
Ida Vogel
Jenny Blechingberg
Jennifer L Cohen
Kacie Riley
Victoria Klee
Laurence E Walsh
Matthias Begemann
Miriam Elbracht
Thomas Eggermann
Arzu Stoppe
Kyra Stuurman
Marjon van Slegtenhorst
Tahsin Stefan Barakat
Maureen S Mulhern
Tristan T Sands
Cheryl Cytrynbaum
Rosanna Weksberg
Federica Isidori
Tommaso Pippucci
Giulia Severi
Francesca Montanari
Michael C Kruer
Somayeh Bakhtiari
Hossein Darvish
Heiko Reutter
Gregor Hagelueken
Matthias Geyer
Adrian S Woolf
Jennifer E Posey
James R Lupski
Benjamin Odermatt
Alina C Hilger
Affiliated Authors:
Maureen S Mulhern
Tristan T Sands
Columbia Affiliation:
elink
Publication Type:
Article
Unique ID:
10.1038/s41525-024-00398-9
PMID:
38429302
DOI:
10.1038/s41525-024-00398-9
Journal:
npj Genomic Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: