Publications:

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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: 4024A>G; Ser1342Gly; rs34694816

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine

He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G

Publication Date: 2021-09-21

Variant appearance in text: RYR1: S1342G

PubMed Link: 34622229

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

European Journal Of Human Genetics : Ejhg

Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K

Publication Date: 2021-12

Variant appearance in text: RYR1: 4024A>G; Ser1342Gly

PubMed Link: 34462577

Variant Present in the following documents:

• 41431_2021_954_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.

European Journal Of Human Genetics : Ejhg

Fridriksdottir, Run R; Jonsson, Arnar J AJ; Jensson, Brynjar O BO; Sverrisson, Kristinn O KO; Arnadottir, Gudny A GA; Skarphedinsdottir, Sigurbjorg J SJ; Katrinardottir, Hildigunnur H; Snaebjornsdottir, Steinunn S; Jonsson, Hakon H; Eiriksson, Ogmundur O; Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Sigurdsson, Gisli H GH; Indridason, Einar P EP; Sigurdsson, Stefan B SB; Bjornsdottir, Gyda G; Saemundsdottir, Jona J; Magnusson, Olafur T OT; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sigurdsson, Theodor S TS; Sulem, Patrick P; Sigurdsson, Martin I MI; Stefansson, Kari K

Publication Date: 2021-12

Variant appearance in text: RYR1: 4024A>G; Ser1342Gly

PubMed Link: 34462577

Variant Present in the following documents:

• 41431_2021_954_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 4024A>G; Ser1342Gly

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 5
• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 4

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: RYR1: 4024A>G; Ser1342Gly

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs34694816

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: RYR1: 4024A>G; Ser1342Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings.

Journal Of Athletic Training

Hosokawa, Yuri Y; Casa, Douglas J DJ; Rosenberg, Henry H; Capacchione, John F JF; Sagui, Emmanuel E; Riazi, Sheila S; Belval, Luke N LN; Deuster, Patricia A PA; Jardine, John F JF; Kavouras, Stavros A SA; Lee, Elaine C EC; Miller, Kevin C KC; Muldoon, Sheila M SM; O'Connor, Francis G FG; Sailor, Scott R SR; Sambuughin, Nyamkhishig N; Stearns, Rebecca L RL; Adams, William M WM; Huggins, Robert A RA; Vandermark, Lesley W LW

Publication Date: 2017-04

Variant appearance in text: RYR1: Ser1342Gly

PubMed Link: 28430550

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: RYR1: 4024A>G; Ser1342Gly

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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: Ser1342Gly

PubMed Link: 27855725

Variant Present in the following documents:

• Main text
• 40478_2016_Article_392.pdf

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: RYR1: S1342G; rs34694816

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

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: S1342G; rs34694816

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: S1342G

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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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: 4024A>G; rs34694816

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: S1342G

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: RYR1: S1342G; rs34694816

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: RYR1: 4024A>G

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: rs34694816

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

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: S1342G

PubMed Link: 23476141

Variant Present in the following documents:

• Main text
• TSWJ2013-531465.pdf

View BVdb publication page

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Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.

Human Genomics

Zhang, Guojie G; Pei, Zhang Z; Ball, Edward V EV; Mort, Matthew M; Kehrer-Sawatzki, Hildegard H; Cooper, David N DN

Publication Date: 2011-07

Variant appearance in text: RYR1: S1342G

PubMed Link: 21807602

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: S1342G

PubMed Link: 21795085

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of CACNA1S in predisposition to malignant hyperthermia.

Bmc Medical Genetics

Carpenter, Danielle D; Ringrose, Christopher C; Leo, Vincenzo V; Morris, Andrew A; Robinson, Rachel L RL; Halsall, P Jane PJ; Hopkins, Philip M PM; Shaw, Marie-Anne MA

Publication Date: 2009-10-13

Variant appearance in text: RYR1: 4024A>G

PubMed Link: 19825159

Variant Present in the following documents:

• Main text
• 1471-2350-10-104.pdf

View BVdb publication page

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