Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RYR1: 9716T>A; Met3239Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RYR1: M3239K; rs371027185

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.

Molecular Genetics & Genomic Medicine

Park, Jihye J; Oh, Hyun Mi HM; Park, Hye Jung HJ; Cho, Ah-Ra AR; Lee, Dong-Woo DW; Jang, Ja-Hyun JH; Jang, Dae-Hyun DH

Publication Date: 2019-10

Variant appearance in text: RYR1: 9716T>A; Met3239Lys

PubMed Link: 31475473

Variant Present in the following documents:

• Main text
• MGG3-7-e00947.pdf

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Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Journal Of Neurology

Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG

Publication Date: 2018-11

Variant appearance in text: RYR1: Met3239Lys

PubMed Link: 30155738

Variant Present in the following documents:

• Main text
• 415_2018_Article_9033.pdf

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Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Frontiers In Neurology

Todd, Joshua J JJ; Razaqyar, Muslima S MS; Witherspoon, Jessica W JW; Lawal, Tokunbor A TA; Mankodi, Ami A; Chrismer, Irene C IC; Allen, Carolyn C; Meyer, Mary D MD; Kuo, Anna A; Shelton, Monique S MS; Amburgey, Kim K; Niyazov, Dmitriy D; Fequiere, Pierre P; Bönnemann, Carsten G CG; Dowling, James J JJ; Meilleur, Katherine G KG

Publication Date: 2018

Variant appearance in text: RYR1: Met3239Lys; rs371027185

PubMed Link: 29556213

Variant Present in the following documents:

• Main text
• fneur-09-00118.pdf

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