HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Niggl, E., Bouman, A., Briere, L. C., Hoogenboezem, R. M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E. D. R. O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P. J., Bertrand, M., Blesson, A. E., Clayton-Smith, J., Ellingford, J. M., Gillentine, M. A., … Zuchner, S. (2023). HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110(8), 1414–1435. https://doi.org/10.1016/j.ajhg.2023.07.005
Authors:
Eva Niggl
Arjan Bouman
Lauren C Briere
Remco M Hoogenboezem
Ilse Wallaard
Joohyun Park
Jakob Admard
Martina Wilke
Emilio D R O Harris-Mostert
Minetta Elgersma
Jennifer Bain
Meena Balasubramanian
Siddharth Banka
Paul J Benke
Miriam Bertrand
Alyssa E Blesson
Jill Clayton-Smith
Jamie M Ellingford
Madelyn A Gillentine
Dana H Goodloe
Tobias B Haack
Mahim Jain
Ian Krantz
Sharon M Luu
Molly McPheron
Candace L Muss
Sarah E Raible
Nathaniel H Robin
Michael Spiller
Susan Starling
David A Sweetser
Isabelle Thiffault
Francesco Vetrini
Dennis Witt
Emily Woods
Dihong Zhou
Ype Elgersma
Annelot C M van Esbroeck
Affiliated Authors:
Jennifer Bain
Columbia Affiliation:
Subjects:
Intellectual Disability (MeSH)
Neurodevelopmental Disorders (MeSH)
Author Keywords:
alternative splicing
heterogeneous ribonucleoprotein c
hnrnp
hnrnpc
induced pluripotent stem cells
intellectual disability
ipscs
ndd
neurodevelopmental disorder
rna processing
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2023.07.005
PMID:
37541189
DOI:
10.1016/j.ajhg.2023.07.005
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record

Record Created: