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: KIT: 2492T>C; L831P

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: L831P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Case Reports In Oncology

Orlova, Kristina V KV; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Venina, Aigul R AR; Iyevleva, Aglaya G AG; Demidov, Lev V LV; Imyanitov, Evgeny N EN

Publication Date: 2019

Variant appearance in text: KIT: L831P

PubMed Link: 31043947

Variant Present in the following documents:

• cro-0012-0109-s01.pdf

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Phase II Study of Nilotinib in Melanoma Harboring KIT Alterations Following Progression to Prior KIT Inhibition.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Carvajal, Richard D RD; Lawrence, Donald P DP; Weber, Jeffrey S JS; Gajewski, Thomas F TF; Gonzalez, Rene R; Lutzky, Jose J; O'Day, Steven J SJ; Hamid, Omid O; Wolchok, Jedd D JD; Chapman, Paul B PB; Sullivan, Ryan J RJ; Teitcher, Jerrold B JB; Ramaiya, Nikhil N; Giobbie-Hurder, Anita A; Antonescu, Cristina R CR; Heinrich, Michael C MC; Bastian, Boris C BC; Corless, Christopher L CL; Fletcher, Jonathan A JA; Hodi, F Stephen FS

Publication Date: 2015-05-15

Variant appearance in text: KIT: L831P

PubMed Link: 25695690

Variant Present in the following documents:

• Main text

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