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: 7007G>A; Arg2336His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Pharmacogenes that demonstrate high association evidence according to CPIC, DPWG, and PharmGKB.

Frontiers In Medicine

Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Aziz, Mohammad A MA; Abohelaika, Salah S

Publication Date: 2022

Variant appearance in text: rs112563513

PubMed Link: 36388934

Variant Present in the following documents:

• Main text
• fmed-09-1001876.pdf

View BVdb publication page

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Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications

Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK

Publication Date: 2022-11-05

Variant appearance in text: rs112563513

PubMed Link: 36335097

Variant Present in the following documents:

• Main text
• 41467_2022_Article_34116.pdf

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: RYR1: 7007G>A; R2336H

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine

Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB

Publication Date: 2021-05-11

Variant appearance in text: rs112563513

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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Genetics of Malignant Hyperthermia: A Brief Update.

Journal Of Anaesthesiology, Clinical Pharmacology

Beebe, David D; Puram, Vikram V VV; Gajic, Srdjan S; Thyagarajan, Bharat B; Belani, Kumar G KG

Publication Date: 2020

Variant appearance in text: MHS: Arg2336His; rs112563513

PubMed Link: 33840940

Variant Present in the following documents:

• Main text
• JOACP-36-552.pdf

View BVdb publication page

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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: 7007G>A; Arg2336His

PubMed Link: 33646171

Variant Present in the following documents:

• Main text

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: RYR1: 7007G>A; rs112563513

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.

Scientific Reports

Hoppe, Kerstin K; Jurkat-Rott, Karin K; Kranepuhl, Stefanie S; Wearing, Scott S; Heiderich, Sebastian S; Merlak, Sonja S; Klingler, Werner W

Publication Date: 2021-02-09

Variant appearance in text: MHS: R2336H

PubMed Link: 33564012

Variant Present in the following documents:

• Main text
• 41598_2021_Article_82024.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: RYR1: 7007G>A; Arg2336His

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Orphanet Journal Of Rare Diseases

Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ

Publication Date: 2020-05-07

Variant appearance in text: RYR1: R2336H

PubMed Link: 32381029

Variant Present in the following documents:

• Main text

View BVdb publication page

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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Acta Neuropathologica

Kushnir, Alexander A; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Yuan, Qi Q; Reiken, Steven S; Lin, Harvey H; Munce, Ross H RH; Wajsberg, Benjamin B; Melville, Zephan Z; Clarke, Oliver B OB; Wedderburn-Pugh, Kaylee K; Wronska, Anetta A; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Shelton, Monique O MO; Mankodi, Ami A; Grunseich, Christopher C; Tarnopolsky, Mark A MA; Tanji, Kurenai K; Hirano, Michio M; Riazi, Sheila S; Kraeva, Natalia N; Voermans, Nicol C NC; Gruber, Angela A; Allen, Carolyn C; Meilleur, Katherine G KG; Marks, Andrew R AR

Publication Date: 2020-06

Variant appearance in text: RYR1: 7007G>A; Arg2336His

PubMed Link: 32236737

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Pharmacogenomics

Sadhasivam, Senthilkumar S; Brandom, Barbara W BW; Henker, Richard A RA; McAuliffe, John J JJ

Publication Date: 2019-09

Variant appearance in text: RYR1: Arg2336His

PubMed Link: 31559918

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Clinical Pharmacology And Therapeutics

Gonsalves, Stephen G SG; Dirksen, Robert T RT; Sangkuhl, Katrin K; Pulk, Rebecca R; Alvarellos, Maria M; Vo, Teresa T; Hikino, Keiko K; Roden, Dan D; Klein, Teri E TE; Poler, S Mark SM; Patel, Sephalie S; Caudle, Kelly E KE; Gordon, Ronald R; Brandom, Barbara B; Biesecker, Leslie G LG

Publication Date: 2019-06

Variant appearance in text: RYR1: Arg2336His

PubMed Link: 30499100

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 7007G>A; Arg2336His

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Arg2336His

PubMed Link: 30155738

Variant Present in the following documents:

• Main text
• 415_2018_9033_MOESM3_ESM.pdf
• 415_2018_9033_MOESM1_ESM.pdf
• 415_2018_Article_9033.pdf

View BVdb publication page

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Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

British Journal Of Anaesthesia

Merritt, A A; Booms, P P; Shaw, M-A MA; Miller, D M DM; Daly, C C; Bilmen, J G JG; Stowell, K M KM; Allen, P D PD; Steele, D S DS; Hopkins, P M PM

Publication Date: 2017-04-01

Variant appearance in text: RYR1: 7007G>A; R2336H

PubMed Link: 28403410

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R2336H

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.

Pharmacogenetics And Genomics

Alvarellos, Maria L ML; McDonagh, Ellen M EM; Patel, Sephalie S; McLeod, Howard L HL; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2015-12

Variant appearance in text: MHS: 7007G>A; rs112563513

PubMed Link: 26398623

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R2336H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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: R2336H

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

View BVdb publication page

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Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Orphanet Journal Of Rare Diseases

Klingler, Werner W; Heiderich, Sebastian S; Girard, Thierry T; Gravino, Elvira E; Heffron, James Ja JJ; Johannsen, Stephan S; Jurkat-Rott, Karin K; Rüffert, Henrik H; Schuster, Frank F; Snoeck, Marc M; Sorrentino, Vincenzo V; Tegazzin, Vincenzo V; Lehmann-Horn, Frank F

Publication Date: 2014-01-16

Variant appearance in text: MHS: 7007G>A

PubMed Link: 24433488

Variant Present in the following documents:

• Main text
• 1750-1172-9-8.pdf

View BVdb publication page

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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: MHS: Arg2336His

PubMed Link: 23919265

Variant Present in the following documents:

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

View BVdb publication page

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Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Anesthesia And Analgesia

Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM

Publication Date: 2013-05

Variant appearance in text: RYR1: Arg2336His

PubMed Link: 23558838

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.

Thescientificworldjournal

Carsana, Antonella A

Publication Date: 2013

Variant appearance in text: MHS: R2336H

PubMed Link: 23476141

Variant Present in the following documents:

• Main text
• TSWJ2013-531465.pdf

View BVdb publication page

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