Publications:

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Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Plos One

Babić Božović, Ivana I; Maver, Aleš A; Leonardis, Lea L; Meznaric, Marija M; Osredkar, Damjan D; Peterlin, Borut B

Publication Date: 2021

Variant appearance in text: RYR1: 11315G>A; Arg3772Gln

PubMed Link: 34106991

Variant Present in the following documents:

• Main text
• pone.0252953.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: 11315G>A; Arg3772Gln

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 5

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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: R3772Q

PubMed Link: 33564012

Variant Present in the following documents:

• Main text
• 41598_2021_Article_82024.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: RYR1: 11315G>A; Arg3772Gln; rs193922839

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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: 11315G>A; Arg3772Gln

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

View BVdb publication page

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Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Anesthesiology

Riazi, Sheila S; Kraeva, Natalia N; Hopkins, Philip M PM

Publication Date: 2018-01

Variant appearance in text: RYR1: R3772Q

PubMed Link: 28902675

Variant Present in the following documents:

• Main text

View BVdb publication page

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Review of RyR1 pathway and associated pathomechanisms.

Acta Neuropathologica Communications

Witherspoon, Jessica W JW; Meilleur, Katherine G KG

Publication Date: 2016-11-17

Variant appearance in text: RYR1: R3772Q

PubMed Link: 27855725

Variant Present in the following documents:

• Main text
• 40478_2016_Article_392.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: R3772Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: R3772Q

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: R3772Q

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

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RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

Jama Ophthalmology

Shaaban, Sherin S; Ramos-Platt, Leigh L; Gilles, Floyd H FH; Chan, Wai-Man WM; Andrews, Caroline C; De Girolami, Umberto U; Demer, Joseph J; Engle, Elizabeth C EC

Publication Date: 2013-12

Variant appearance in text: RYR1: R3772Q

PubMed Link: 24091937

Variant Present in the following documents:

• Main text

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: 11315G>A

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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Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Yuen, Benjamin B; Boncompagni, Simona S; Feng, Wei W; Yang, Tianzhong T; Lopez, Jose R JR; Matthaei, Klaus I KI; Goth, Samuel R SR; Protasi, Feliciano F; Franzini-Armstrong, Clara C; Allen, Paul D PD; Pessah, Isaac N IN

Publication Date: 2012-03

Variant appearance in text: RYR1: R3772Q

PubMed Link: 22131268

Variant Present in the following documents:

• Main text

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Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Molecular Genetics And Metabolism

Vladutiu, Georgirene D GD; Isackson, Paul J PJ; Kaufman, Kenneth K; Harley, John B JB; Cobb, Beth B; Christopher-Stine, Lisa L; Wortmann, Robert L RL

Publication Date: 2011

Variant appearance in text: RYR1: R3772Q

PubMed Link: 21795085

Variant Present in the following documents:

• Main text

View BVdb publication page

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