Publications:

Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine

Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS

Publication Date: 2021-05

Variant appearance in text: VPS13A: R1961*

PubMed Link: 33811746

Variant Present in the following documents:

• CAM4-10-3045-s001.xlsx, sheet 2

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Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.

Scientific Reports

Darvish, Hossein H; Azcona, Luis J LJ; Tafakhori, Abbas A; Mesias, Roxana R; Ahmadifard, Azadeh A; Sanchez, Elena E; Habibi, Arman A; Alehabib, Elham E; Johari, Amir Hossein AH; Emamalizadeh, Babak B; Jamali, Faezeh F; Chapi, Marjan M; Jamshidi, Javad J; Kajiwara, Yuji Y; Paisán-Ruiz, Coro C

Publication Date: 2020-01-22

Variant appearance in text: VPS13A: R1961X

PubMed Link: 31969655

Variant Present in the following documents:

• Main text
• 41598_2020_Article_57929.pdf

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Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.

Neurology. Genetics

Nishida, Yoshiaki Y; Nakamura, Masayuki M; Urata, Yuka Y; Kasamo, Kei K; Hiwatashi, Hanae H; Yokoyama, Izumi I; Mizobuchi, Masahiro M; Sakurai, Kotaro K; Osaki, Yasushi Y; Morita, Yukari Y; Watanabe, Masako M; Yoshida, Kenji K; Yamane, Kiyomi K; Miyakoshi, Natsuki N; Okiyama, Ryouichi R; Ueda, Takehiro T; Wakasugi, Noritaka N; Saitoh, Yuji Y; Sakamoto, Takashi T; Takahashi, Yuji Y; Shibano, Ken K; Tokuoka, Hideki H; Hara, Atsushi A; Monma, Kazunari K; Ogata, Katsuhisa K; Kakuda, Keita K; Mochizuki, Hideki H; Arai, Takeo T; Araki, Manabu M; Fujii, Takeshi T; Tsukita, Kazuto K; Sakamaki-Tsukita, Haruhi H; Sano, Akira A

Publication Date: 2019-06

Variant appearance in text: VPS13A: 5881C>T

PubMed Link: 31192303

Variant Present in the following documents:

• NG2018009811.pdf

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: VPS13A: R1961*

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 14

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