Publications:

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).

Molecular Genetics And Genomics : Mgg

Chaudhari, Sima S; Ware, Akshay Pramod AP; Jasti, Dushyanth Babu DB; Gorthi, Sankar Prasad SP; Acharya, Lavanya Prakash LP; Bhat, Manoj M; Mallya, Sandeep S; Satyamoorthy, Kapaettu K

Publication Date: 2023-05-20

Variant appearance in text: VPS13A: 799C>T; R267*; rs771004767

PubMed Link: 37209156

Variant Present in the following documents:

• Main text
• 438_2023_Article_2032.pdf

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: VPS13A: R267*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

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Decreased Na+/K+ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients.

Scientific Reports

Hosseinzadeh, Zohreh Z; Hauser, Stefan S; Singh, Yogesh Y; Pelzl, Lisann L; Schuster, Stefanie S; Sharma, Yamini Y; Höflinger, Philip P; Zacharopoulou, Nefeli N; Stournaras, Christos C; Rathbun, Daniel L DL; Zrenner, Eberhart E; Schöls, Ludger L; Lang, Florian F

Publication Date: 2020-05-21

Variant appearance in text: VPS13A: Arg267*

PubMed Link: 32439941

Variant Present in the following documents:

• Main text
• 41598_2020_Article_64845.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: VPS13A: 799C>T; Arg267*

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: 799C>T

PubMed Link: 31192303

Variant Present in the following documents:

• NG2018009811.pdf

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