Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Riggs, E. R., Bingaman, T. I., Barry, C.-A., Behlmann, A., Bluske, K., Bostwick, B., Bright, A., Chen, C.-A., Clause, A. R., Dharmadhikari, A. V., Ganapathi, M., Gonzaga-Jauregui, C., Grant, A. R., Hughes, M. Y., Kim, S. R., Krause, A., Liao, J., Lumaka, A., Mah, M., … Schaaf, C. P. (2022). Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genetics in Medicine, 24(9), 1899–1908. https://doi.org/10.1016/j.gim.2022.05.001
Authors:
Erin Rooney Riggs
Taylor I Bingaman
Carrie-Ann Barry
Andrea Behlmann
Krista Bluske
Bret Bostwick
Alison Bright
Chun-An Chen
Amanda R Clause
Avinash V Dharmadhikari
Mythily Ganapathi
Claudia Gonzaga-Jauregui
Andrew R Grant
Madeline Y Hughes
Se Rin Kim
Amanda Krause
Jun Liao
Aimé Lumaka
Michelle Mah
Caitlin M Maloney
Shruthi Mohan
Ikeoluwa A Osei-Owusu
Emma Reble
Olivia Rennie
Juliann M Savatt
Hermela Shimelis
Rebecca K Siegert
Tam P Sneddon
Courtney Thaxton
Kelly A Toner
Kien Trung Tran
Ryan Webb
Emma H Wilcox
Jiani Yin
Xinming Zhuo
Masa Znidarsic
Christa Lese Martin
Catalina Betancur
Jacob A S Vorstman
David T Miller
Christian P Schaaf
Affiliated Authors:
Mythily Ganapathi
Jun Liao
Columbia Affiliation:
Subjects:
Autism Spectrum Disorder (MeSH)
Autistic Disorder (MeSH)
Intellectual Disability (MeSH)
Neurodevelopmental Disorders (MeSH)
Author Keywords:
autism
clingen
gene-disease validity
intellectual disability
neurodevelopmental disorders
gene–disease validity
elink
Publication Type:
Article
Unique ID:
10.1016/j.gim.2022.05.001
PMID:
35616647
DOI:
10.1016/j.gim.2022.05.001
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: