Publications:

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

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: ATM: 377A>G

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Rare germline variants in known melanoma susceptibility genes in familial melanoma.

Human Molecular Genetics

Goldstein, Alisa M AM; Xiao, Yanzi Y; Sampson, Joshua J; Zhu, Bin B; Rotunno, Melissa M; Bennett, Hunter H; Wen, Yixuan Y; Jones, Kristine K; Vogt, Aurelie A; Burdette, Laurie L; Luo, Wen W; Zhu, Bin B; Yeager, Meredith M; Hicks, Belynda B; Han, Jiali J; De Vivo, Immaculata I; Koutros, Stella S; Andreotti, Gabriella G; Beane-Freeman, Laura L; Purdue, Mark M; Freedman, Neal D ND; Chanock, Stephen J SJ; Tucker, Margaret A MA; Yang, Xiaohong R XR

Publication Date: 2017-12-15

Variant appearance in text: ATM: D126G

PubMed Link: 29036293

Variant Present in the following documents:

• Main text

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