Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

O’Grady, L., Schrier Vergano, S. A., Hoffman, T. L., Sarco, D., Cherny, S., Bryant, E., Schultz‐Rogers, L., Chung, W. K., Sacharow, S., Immken, L. L., Holder, S., Blackwell, R. R., Buchanan, C., Yusupov, R., Lecoquierre, F., Guerrot, A., Rodan, L., de Vries, B. B. A., Kamsteeg, E. J., … Gold, N. B. (2022). Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. American Journal of Medical Genetics Part A, 188(9), 2750–2759. Portico. https://doi.org/10.1002/ajmg.a.62772
Authors:
Lauren O'Grady
Samantha A. Schrier Vergano
Trevor L. Hoffman
Dean Sarco
Sara Cherny
Emily Bryant
Laura Schultz-Rogers
Wendy K. Chung
Stephanie Sacharow
Ladonna L. Immken
Susan Holder
Rebecca R. Blackwell
Catherine Buchanan
Roman Yusupov
François Lecoquierre
Anne-Marie Guerrot
Lance Rodan
Bert B. A. de Vries
Erik Jan Kamsteeg
Fernando Santos Simarro
Maria Palomares-Bralo
Natasha Brown
Lynn Pais
Alejandro Ferrer
Eric W. Klee
Dusica Babovic-Vuksanovic
Lindsay Rhodes
Richard Person
Amber Begtrup
Jennifer Keller-Ramey
Teresa Santiago-Sim
Rhonda E. Schnur
David A. Sweetser
Nina B. Gold
Affiliated Authors:
Wendy K. Chung
Columbia Affiliation:
Subjects:
Autism Spectrum Disorder (MeSH)
Neurodevelopmental Disorders (MeSH)
Retinitis Pigmentosa (MeSH)
Author Keywords:
autism
exome sequencing
neurodevelopmental disabilities
retinitis pigmentosa
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Publication Type:
Article
Unique ID:
10.1002/ajmg.a.62772
PMID:
35543142
DOI:
10.1002/ajmg.a.62772
Journal:
American Journal of Medical Genetics, Part A
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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Record Created: