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: 7354C>T; Arg2452Trp

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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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: 7354C>T; R2452W

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: rs118192124

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

Brain Sciences

Lupica, Antonino A; Di Stefano, Vincenzo V; Gagliardo, Andrea A; Iacono, Salvatore S; Pignolo, Antonia A; Ferlisi, Salvatore S; Torrente, Angelo A; Pagano, Sonia S; Gangitano, Massimo M; Brighina, Filippo F

Publication Date: 2021-03-21

Variant appearance in text: RYR1: 7354C>T

PubMed Link: 33801069

Variant Present in the following documents:

• brainsci-11-00398.pdf

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Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

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

Johnston, Jennifer J JJ; Dirksen, Robert T RT; Girard, Thierry T; Gonsalves, Stephen G SG; Hopkins, Philip M PM; Riazi, Sheila S; Saddic, Louis A LA; Sambuughin, Nyamkhishig N; Saxena, Richa R; Stowell, Kathryn K; Weber, James J; Rosenberg, Henry H; Biesecker, Leslie G LG

Publication Date: 2021-07

Variant appearance in text: RYR1: 7354C>T

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 7

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: 7354C>T; Arg2452Trp

PubMed Link: 33646171

Variant Present in the following documents:

• Main text
• jnd-8-jnd200549.pdf

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: 7354C>T; rs118192124

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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Thirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days.

European Journal Of Translational Myology

Carraro, Ugo U

Publication Date: 2020-04-07

Variant appearance in text: RYR1: 7354C>T; R2452W

PubMed Link: 32499887

Variant Present in the following documents:

• Main text
• ejtm-30-1-8826.pdf

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: R2452W

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: 7354C>T; Arg2452Trp

PubMed Link: 32236737

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?

Frontiers In Neurology

Iodice, Pierpaolo P; Boncompagni, Simona S; Pietrangelo, Laura L; Galli, Lucia L; Pierantozzi, Enrico E; Rossi, Daniela D; Fusella, Aurora A; Caulo, Massimo M; Kern, Helmut H; Sorrentino, Vincenzo V; Protasi, Feliciano F

Publication Date: 2019

Variant appearance in text: RYR1: 7354C>T

PubMed Link: 31191425

Variant Present in the following documents:

• Main text
• fneur-10-00479.pdf

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: Arg2452Trp

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: 7354C>T; Arg2452Trp

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: Arg2452Trp

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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Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.

Journal Of Neuromuscular Diseases

Parker, Remai R; Schiemann, Anja H AH; Langton, Elaine E; Bulger, Terasa T; Pollock, Neil N; Bjorksten, Andrew A; Gillies, Robyn R; Hutchinson, David D; Roxburgh, Richard R; Stowell, Kathryn M KM

Publication Date: 2017

Variant appearance in text: RYR1: R2452W

PubMed Link: 28527222

Variant Present in the following documents:

• jnd-4-jnd170210.pdf

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Functional analysis of RYR1 variants linked to malignant hyperthermia.

Temperature (Austin, Tex.)

Stephens, Jeremy J; Schiemann, Anja H AH; Roesl, Cornelia C; Miller, Dorota D; Massey, Sean S; Pollock, Neil N; Bulger, Terasa T; Stowell, Kathryn K

Publication Date: 2016

Variant appearance in text: RYR1: 7354C>T

PubMed Link: 27857962

Variant Present in the following documents:

• Main text
• ktmp-03-02-1153360.pdf

View BVdb publication page

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Functional characterization of orbicularis oculi and extraocular muscles.

The Journal Of General Physiology

Sekulic-Jablanovic, Marijana M; Ullrich, Nina D ND; Goldblum, David D; Palmowski-Wolfe, Anja A; Zorzato, Francesco F; Treves, Susan S

Publication Date: 2016-05

Variant appearance in text: RYR1: 7354C>T

PubMed Link: 27069119

Variant Present in the following documents:

• JGP_201511542.pdf

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: R2452W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: R2452W

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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Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region.

Journal Of Clinical Neurology (Seoul, Korea)

Jung, Na-Yeon NY; Park, Yeong-Eun YE; Shin, Jin-Hong JH; Lee, Chang Hun CH; Jung, Dae-Soo DS; Kim, Dae-Seong DS

Publication Date: 2015-01

Variant appearance in text: RYR1: 7354C>T

PubMed Link: 25628744

Variant Present in the following documents:

• jcn-11-97.pdf

View BVdb publication page

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Potassium dependent rescue of a myopathy with core-like structures in mouse.

Elife

Hanson, M Gartz MG; Wilde, Jonathan J JJ; Moreno, Rosa L RL; Minic, Angela D AD; Niswander, Lee L

Publication Date: 2015-01-07

Variant appearance in text: RYR1: R2452W

PubMed Link: 25564733

Variant Present in the following documents:

• Main text

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: 7354C>T

PubMed Link: 24433488

Variant Present in the following documents:

• Main text
• 1750-1172-9-8.pdf

View BVdb publication page

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