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: 4485_4500del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.

Journal Of Neuromuscular Diseases

Lawal, Tokunbor A TA; Patankar, Aneesh A; Todd, Joshua J JJ; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Waite, Melissa R MR; Jain, Minal S MS; Emile-Backer, Magalie M; Witherspoon, Jessica W JW; Liu, Chia-Ying CY; Grunseich, Christopher C; Meilleur, Katherine G KG

Publication Date: 2021

Variant appearance in text: RYR1: 4485_4500del

PubMed Link: 33646171

Variant Present in the following documents:

• Main text

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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: 4485_4500del

PubMed Link: 30155738

Variant Present in the following documents:

• Main text
• 415_2018_Article_9033.pdf

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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Molecular Genetics & Genomic Medicine

Publication Date: 2018-05

Variant appearance in text: RYR1: 4485_4500del; Trp1495X

PubMed Link: 29932520

Variant Present in the following documents:

• MGG3-6-469.pdf

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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Molecular Genetics & Genomic Medicine

Blackburn, Patrick R PR; Selcen, Duygu D; Gass, Jennifer M JM; Jackson, Jessica L JL; Macklin, Sarah S; Cousin, Margot A MA; Boczek, Nicole J NJ; Klee, Eric W EW; Dimberg, Elliot L EL; Kennelly, Kathleen D KD; Atwal, Paldeep S PS

Publication Date: 2017-05

Variant appearance in text: RYR1: 4485_4500del

PubMed Link: 28547000

Variant Present in the following documents:

• Main text
• MGG3-5-295.pdf

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