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: 5036G>A; Arg1679His; rs146504767

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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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: 5036G>A; Arg1679His

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: 5036G>A; Arg1679His

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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Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.

Frontiers In Oncology

Gao, Jian J; Xi, Lei L; Yu, Rentao R; Xu, Huailong H; Wu, Min M; Huang, Hong H

Publication Date: 2021

Variant appearance in text: RYR1: 5036G>A

PubMed Link: 33996539

Variant Present in the following documents:

• DataSheet_8.xlsx, sheet 4
• DataSheet_8.xlsx, sheet 3

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: 5036G>A; Arg1679His

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 5

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: RYR1: 5036G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurology. Genetics

Rubegni, Anna A; Malandrini, Alessandro A; Dosi, Claudia C; Astrea, Guja G; Baldacci, Jacopo J; Battisti, Carla C; Bertocci, Giulia G; Donati, M Alice MA; Dotti, M Teresa MT; Federico, Antonio A; Giannini, Fabio F; Grosso, Salvatore S; Guerrini, Renzo R; Lenzi, Sara S; Maioli, Maria A MA; Melani, Federico F; Mercuri, Eugenio E; Sacchini, Michele M; Salvatore, Simona S; Siciliano, Gabriele G; Tolomeo, Deborah D; Tonin, Paola P; Volpi, Nila N; Santorelli, Filippo M FM; Cassandrini, Denise D

Publication Date: 2019-10

Variant appearance in text: RYR1: 5036G>A; Arg1679His

PubMed Link: 31517061

Variant Present in the following documents:

• NG2019010587.pdf

View BVdb publication page

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ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.

Scientific Reports

Jarmula, Adam A; Łusakowska, Anna A; Fichna, Jakub P JP; Topolewska, Malgorzata M; Macias, Anna A; Johnson, Katherine K; Töpf, Ana A; Straub, Volker V; Rosiak, Edyta E; Szczepaniak, Krzysztof K; Dunin-Horkawicz, Stanisław S; Maruszak, Aleksandra A; Kaminska, Anna M AM; Redowicz, Maria Jolanta MJ

Publication Date: 2019-08-08

Variant appearance in text: RYR1: 5036G>A; Arg1679His; rs146504767

PubMed Link: 31395899

Variant Present in the following documents:

• 41598_2019_47849_MOESM1_ESM.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: RYR1: R1679H

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2
• mmc6.xlsx, sheet 3

View BVdb publication page

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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Acta Neuropathologica Communications

Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB

Publication Date: 2019-01-05

Variant appearance in text: RYR1: 5036G>A; R1679H; rs146504767

PubMed Link: 30611313

Variant Present in the following documents:

• Main text
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 2
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 1
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 3
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 6
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 8
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Abnormal calcium signalling and the caffeine-halothane contracture test.

British Journal Of Anaesthesia

Figueroa, L L; Kraeva, N N; Manno, C C; Toro, S S; Ríos, E E; Riazi, S S

Publication Date: 2019-01

Variant appearance in text: RYR1: R1679H; rs146504767

PubMed Link: 30579404

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.

Pharmacogenomics

Isackson, Paul J PJ; Wang, Jianxin J; Zia, Mohammad M; Spurgeon, Paul P; Levesque, Adrian A; Bard, Jonathan J; James, Smitha S; Nowak, Norma N; Lee, Tae Keun TK; Vladutiu, Georgirene D GD

Publication Date: 2018-11

Variant appearance in text: RYR1: R1679H

PubMed Link: 30325262

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial aortic disease and a large duplication in chromosome 16p13.1.

Molecular Genetics & Genomic Medicine

Erhart, Philipp P; Brandt, Tobias T; Straub, Beate K BK; Hausser, Ingrid I; Hentze, Sabine S; Böckler, Dittmar D; Grond-Ginsbach, Caspar C

Publication Date: 2018-05

Variant appearance in text: rs146504767

PubMed Link: 29441698

Variant Present in the following documents:

• Main text
• MGG3-6-441.pdf

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: 5036G>A; Arg1679His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: R1679H; rs146504767

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: RYR1: 5036G>A; rs146504767

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, 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: R1679H

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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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Nature Genetics

Taylor, Jenny C JC; Martin, Hilary C HC; Lise, Stefano S; Broxholme, John J; Cazier, Jean-Baptiste JB; Rimmer, Andy A; Kanapin, Alexander A; Lunter, Gerton G; Fiddy, Simon S; Allan, Chris C; Aricescu, A Radu AR; Attar, Moustafa M; Babbs, Christian C; Becq, Jennifer J; Beeson, David D; Bento, Celeste C; Bignell, Patricia P; Blair, Edward E; Buckle, Veronica J VJ; Bull, Katherine K; Cais, Ondrej O; Cario, Holger H; Chapel, Helen H; Copley, Richard R RR; Cornall, Richard R; Craft, Jude J; Dahan, Karin K; Davenport, Emma E EE; Dendrou, Calliope C; Devuyst, Olivier O; Fenwick, Aimée L AL; Flint, Jonathan J; Fugger, Lars L; Gilbert, Rodney D RD; Goriely, Anne A; Green, Angie A; Greger, Ingo H IH; Grocock, Russell R; Gruszczyk, Anja V AV; Hastings, Robert R; Hatton, Edouard E; Higgs, Doug D; Hill, Adrian A; Holmes, Chris C; Howard, Malcolm M; Hughes, Linda L; Humburg, Peter P; Johnson, David D; Karpe, Fredrik F; Kingsbury, Zoya Z; Kini, Usha U; Knight, Julian C JC; Krohn, Jonathan J; Lamble, Sarah S; Langman, Craig C; Lonie, Lorne L; Luck, Joshua J; McCarthy, Davis D; McGowan, Simon J SJ; McMullin, Mary Frances MF; Miller, Kerry A KA; Murray, Lisa L; Németh, Andrea H AH; Nesbit, M Andrew MA; Nutt, David D; Ormondroyd, Elizabeth E; Oturai, Annette Bang AB; Pagnamenta, Alistair A; Patel, Smita Y SY; Percy, Melanie M; Petousi, Nayia N; Piazza, Paolo P; Piret, Sian E SE; Polanco-Echeverry, Guadalupe G; Popitsch, Niko N; Powrie, Fiona F; Pugh, Chris C; Quek, Lynn L; Robbins, Peter A PA; Robson, Kathryn K; Russo, Alexandra A; Sahgal, Natasha N; van Schouwenburg, Pauline A PA; Schuh, Anna A; Silverman, Earl E; Simmons, Alison A; Sørensen, Per Soelberg PS; Sweeney, Elizabeth E; Taylor, John J; Thakker, Rajesh V RV; Tomlinson, Ian I; Trebes, Amy A; Twigg, Stephen Rf SR; Uhlig, Holm H HH; Vyas, Paresh P; Vyse, Tim T; Wall, Steven A SA; Watkins, Hugh H; Whyte, Michael P MP; Witty, Lorna L; Wright, Ben B; Yau, Chris C; Buck, David D; Humphray, Sean S; Ratcliffe, Peter J PJ; Bell, John I JI; Wilkie, Andrew Om AO; Bentley, David D; Donnelly, Peter P; McVean, Gilean G

Publication Date: 2015-07

Variant appearance in text: RYR1: 5036G>A; R1679H

PubMed Link: 25985138

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: R1679H

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: R1679H

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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