Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

Lowther, C., Valkanas, E., Giordano, J. L., Wang, H. Z., Currall, B. B., O’Keefe, K., Pierce-Hoffman, E., Kurtas, N. E., Whelan, C. W., Hao, S. P., Weisburd, B., Jalili, V., Fu, J., Wong, I., Collins, R. L., Zhao, X., Austin-Tse, C. A., Evangelista, E., Lemire, G., … Talkowski, M. E. (2023). Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. The American Journal of Human Genetics, 110(9), 1454–1469. https://doi.org/10.1016/j.ajhg.2023.07.010

Authors:

Chelsea Lowther

Elise Valkanas

Jessica L. Giordano

Harold Z. Wang

Benjamin Currall

Kathryn O’Keefe

Emma Pierce‐Hoffman

Nehir Edibe Kurtas

Christopher W. Whelan

Stephanie P. Hao

Ben Weisburd

Vahid Jalili

Jack Fu

Isaac Wong

Ryan L. Collins

Xuefang Zhao

Christina Austin‐Tse

Emily Evangelista

Gabrielle Lemire

Vimla S. Aggarwal

Diane Lucente

Laura D. Gauthier

Charlotte Tolonen

Nareh Sahakian

Christine Stevens

Joon‐Yong An

Shan Dong

Mary E. Norton

Tippi C. MacKenzie

Bernie Devlin

Kelly L. Gilmore

Bradford C. Powell

Alicia Brandt

Francesco Vetrini

Michelle DiVito

Stephan Sanders

Daniel G. MacArthur

Jennelle C. Hodge

Anne O’Donnell-Luria

Heidi L. Rehm

Neeta L. Vora

Brynn Levy

Harrison Brand

Ronald J. Wapner

Michael E. Talkowski

Affiliated Authors:

Jessica L. Giordano

Vimla S. Aggarwal

Michelle DiVito

Brynn Levy

Ronald J. Wapner

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Obstetrics and Gynecology
- Department of Pathology and Cell Biology

Subjects:

Autism Spectrum Disorder (MeSH)

Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)

Prenatal Aneuploidy Diagnosis and Screening Techniques (OpenAlex Topic)

Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)

Author Keywords:

genome sequencing, karyotype, microarray, exome sequencing, structural variant, autism spectrum disorder, structural anomaly, prenatal, first-tier, diagnostic

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Publication Type:

Article

Unique ID:

10.1016/j.ajhg.2023.07.010

PMID:

37595579

DOI:

10.1016/j.ajhg.2023.07.010

Journal:

American Journal of Human Genetics

Publication Date: