Rachel K. Earl

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Xueya Zhou, Pamela Feliciano, Chang Shu et al. · Nature Genetics · 2022 · 423 citations · Full text

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang, Kendra Hoekzema, Davide Vecchio et al. · Nature Communications · 2020 · 204 citations · Full text

Genetics, Most Genes, Disease Gene Identification +19

Clinical phenotype of the recurrent 1q21.1 copy-number variant

Raphael Bernier, Kyle J. Steinman, Beau Reilly et al. · Genetics in Medicine · 2015 · 195 citations · Full text

Genetic Disorder, Medicine, Genetics +7

Recent ultra-rare inherited variants implicate new autism candidate risk genes

Amy B. Wilfert, Tychele N. Turner, Shwetha C. Murali et al. · Nature Genetics · 2021 · 137 citations · Full text

Syndromic Autism, Genetic Disorder, Genetics +8

The Autism Biomarkers Consortium for Clinical Trials (ABC-CT): Scientific Context, Study Design, and Progress Toward Biomarker Qualification

James C. McPartland, Raphael Bernier, Shafali Jeste et al. · Frontiers in Integrative Neuroscience · 2020 · 129 citations · Full text