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: 529C>T; Arg177Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia

Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM

Publication Date: 2018-10

Variant appearance in text: RYR1: 529C>T; Arg177Cys

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: RYR1: 529C>T; rs193922757

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.

European Journal Of Translational Myology

Lavorato, Manuela M; Gupta, Pawan K PK; Hopkins, Philip M PM; Franzini-Armstrong, Clara C

Publication Date: 2016-09-15

Variant appearance in text: RYR1: R177C

PubMed Link: 28078069

Variant Present in the following documents:

• Main text
• ejtm-2016-4-6105.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MHS1: R177C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: RYR1: 529C>T; R177W

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RYR1: R177C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Anesthesiology

Fiszer, Dorota D; Shaw, Marie-Anne MA; Fisher, Nickla A NA; Carr, Ian M IM; Gupta, Pawan K PK; Watkins, Elizabeth J EJ; Roiz de Sa, Daniel D; Kim, Jerry H JH; Hopkins, Philip M PM

Publication Date: 2015-05

Variant appearance in text: MHS: 529C>T; rs193922757

PubMed Link: 25658027

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Nature

Yan, Zhen Z; Bai, Xiaochen X; Yan, Chuangye C; Wu, Jianping J; Li, Zhangqiang Z; Xie, Tian T; Peng, Wei W; Yin, Changcheng C; Li, Xueming X; Scheres, Sjors H W SHW; Shi, Yigong Y; Yan, Nieng N

Publication Date: 2015-01-01

Variant appearance in text: MHS1: R177C

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

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Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Amador, Fernando J FJ; Liu, Shuang S; Ishiyama, Noboru N; Plevin, Michael J MJ; Wilson, Aaron A; MacLennan, David H DH; Ikura, Mitsuhiko M

Publication Date: 2009-07-07

Variant appearance in text: RYR1: R177C

PubMed Link: 19541610

Variant Present in the following documents:

• Main text

View BVdb publication page

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