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: 4405C>T; Arg1469Trp; rs200546266

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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Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

Clinical Genetics

Reumers, Stacha F I SFI; Erasmus, Corrie E CE; Bouman, Karlijn K; Pennings, Maartje M; Schouten, Meyke M; Kusters, Benno B; Duijkers, Floor A M FAM; van der Kooi, Anneke A; Jaeger, Bregje B; Verschuuren-Bemelmans, Corien C CC; Faber, Catharina G CG; van Engelen, Baziel G BG; Kamsteeg, Erik-Jan EJ; Jungbluth, Heinz H; Voermans, Nicol C NC

Publication Date: 2021-12

Variant appearance in text: RYR1: Arg1469Trp

PubMed Link: 34463354

Variant Present in the following documents:

• Main text
• CGE-100-692.pdf

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: 4405C>T; Arg1469Trp

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: 4405C>T; Arg1469Trp

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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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: 4405C>T; Arg1469Trp; rs200546266

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

European Journal Of Neurology

Krenn, M M; Tomschik, M M; Rath, J J; Cetin, H H; Grisold, A A; Zulehner, G G; Milenkovic, I I; Stogmann, E E; Zimprich, A A; Strom, T M TM; Meitinger, T T; Wagner, M M; Zimprich, F F

Publication Date: 2020-01

Variant appearance in text: RYR1: 4405C>T; R1469W

PubMed Link: 31407473

Variant Present in the following documents:

• Main text
• ENE-27-51.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs200546266

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RYR1: 4405C>T; R1469W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: 4405C>T; rs200546266

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

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: 4405C>T; rs200546266

PubMed Link: 25658027

Variant Present in the following documents:

• Main text

View BVdb publication page

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