Publications:

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: RYR1: 1186G>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.

Scientific Reports

Foo, Claribel Tian Yu CTY; To, Yi Hui YH; Irwanto, Astrid A; Ng, Alvin Yu-Jin AY; Yan, Benedict B; Chew, Sophia Tsong Huey STH; Liu, Jianjun J; Ti, Lian Kah LK

Publication Date: 2022-03-31

Variant appearance in text: RYR1: 1186G>T

PubMed Link: 35361824

Variant Present in the following documents:

• 41598_2022_Article_9310.pdf

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Clinical detection of deletion structural variants in whole-genome sequences.

Npj Genomic Medicine

Noll, Aaron C AC; Miller, Neil A NA; Smith, Laurie D LD; Yoo, Byunggil B; Fiedler, Stephanie S; Cooley, Linda D LD; Willig, Laurel K LK; Petrikin, Josh E JE; Cakici, Julie J; Lesko, John J; Newton, Angela A; Detherage, Kali K; Thiffault, Isabelle I; Saunders, Carol J CJ; Farrow, Emily G EG; Kingsmore, Stephen F SF

Publication Date: 2016

Variant appearance in text: RYR1: 1186G>T; Glu396X

PubMed Link: 29263817

Variant Present in the following documents:

• npjgenmed201626-s7.xlsx, sheet 1

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: RYR1: E396X; rs774919231

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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