Publications:

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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: 8816G>A; Arg2939Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RYR1: 8816G>A; R2939K

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.

Bmc Neurology

Luo, Sushan S; Xu, Minjie M; Sun, Jian J; Qiao, Kai K; Song, Jie J; Cai, Shuang S; Zhu, Wenhua W; Zhou, Lei L; Xi, Jianying J; Lu, Jiahong J; Ni, Xiaohua X; Dou, Tonghai T; Zhao, Chongbo C

Publication Date: 2019-05-08

Variant appearance in text: RYR1: 8816G>A; Arg2939Lys

PubMed Link: 31068157

Variant Present in the following documents:

• Main text
• 12883_2019_Article_1322.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: RYR1: R2939K; rs118192125

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.

Neurology

Matthews, Emma E; Neuwirth, Christoph C; Jaffer, Fatima F; Scalco, Renata S RS; Fialho, Doreen D; Parton, Matt M; Raja Rayan, Dipa D; Suetterlin, Karen K; Sud, Richa R; Spiegel, Roland R; Mein, Rachel R; Houlden, Henry H; Schaefer, Andrew A; Healy, Estelle E; Palace, Jacqueline J; Quinlivan, Ros R; Treves, Susan S; Holton, Janice L JL; Jungbluth, Heinz H; Hanna, Michael G MG

Publication Date: 2018-01-30

Variant appearance in text: RYR1: Arg2939Lys

PubMed Link: 29298851

Variant Present in the following documents:

• NEUROLOGY2017827741.pdf

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Using exome data to identify malignant hyperthermia susceptibility mutations.

Anesthesiology

Gonsalves, Stephen G SG; Ng, David D; Johnston, Jennifer J JJ; Teer, Jamie K JK; Stenson, Peter D PD; Cooper, David N DN; Mullikin, James C JC; Biesecker, Leslie G LG; ,

Publication Date: 2013-11

Variant appearance in text: RYR1: Arg2939Lys

PubMed Link: 24195946

Variant Present in the following documents:

• Main text

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Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases

Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ

Publication Date: 2013-08-06

Variant appearance in text: RYR1: 8816G>A; R2939K

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 2
• 1750-1172-8-117-S1.xlsx, sheet 1

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Ryanodine receptors: structure, expression, molecular details, and function in calcium release.

Cold Spring Harbor Perspectives In Biology

Lanner, Johanna T JT; Georgiou, Dimitra K DK; Joshi, Aditya D AD; Hamilton, Susan L SL

Publication Date: 2010-11

Variant appearance in text: RYR1: Arg2939Lys

PubMed Link: 20961976

Variant Present in the following documents:

• Main text

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Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscular Disorders : Nmd

Zhou, Haiyan H; Lillis, Suzanne S; Loy, Ryan E RE; Ghassemi, Farshid F; Rose, Michael R MR; Norwood, Fiona F; Mills, Kerry K; Al-Sarraj, Safa S; Lane, Russell J M RJ; Feng, Lucy L; Matthews, Emma E; Sewry, Caroline A CA; Abbs, Stephen S; Buk, Stefan S; Hanna, Michael M; Treves, Susan S; Dirksen, Robert T RT; Meissner, Gerhard G; Muntoni, Francesco F; Jungbluth, Heinz H

Publication Date: 2010-03

Variant appearance in text: RYR1: 8816G>A

PubMed Link: 20080402

Variant Present in the following documents:

• Main text

View BVdb publication page

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