Litcius/Paper detail

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

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

2023The American Journal of Human Genetics54 citationsDOIOpen Access PDF

Topics & Concepts

Exome sequencingAutism spectrum disorderProbandCopy-number variationGeneticsWhole genome sequencingComputational biologyDiagnostic testMicroarrayExomeBiologyMedicineGenomeBioinformaticsAutismPediatricsPhenotypeMutationGenePsychiatryGene expressionGenomic variations and chromosomal abnormalitiesPrenatal Screening and DiagnosticsGenomics and Rare Diseases