Publications:

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Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Frontiers In Pharmacology

Parada-Márquez, Juan Fernando JF; Maldonado-Rodriguez, Nicolás David ND; Triana-Fonseca, Paula P; Contreras-Bravo, Nora Constanza NC; Calderón-Ospina, Carlos Alberto CA; Restrepo, Carlos M CM; Morel, Adrien A; Ortega-Recalde, Oscar Javier OJ; Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2023

Variant appearance in text: rs76537615

PubMed Link: 37021041

Variant Present in the following documents:

• Table2.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RYR1: P1632S; rs76537615

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 4894C>T; Pro1632Ser; rs76537615

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: 4894C>T; Pro1632Ser

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: 4894C>T; Pro1632Ser

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: 4894C>T; Pro1632Ser

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 4

View BVdb publication page

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Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Bmc Medical Genetics

Oluwole, Oluwafemi G OG; Kuivaniemi, Helena H; Abrahams, Shameemah S; Haylett, William L WL; Vorster, Alvera A AA; van Heerden, Carel J CJ; Kenyon, Colin P CP; Tabb, David L DL; Fawale, Michael B MB; Sunmonu, Taofiki A TA; Ajose, Abiodun A; Olaogun, Matthew O MO; Rossouw, Anastasia C AC; van Hillegondsberg, Ludo S LS; Carr, Jonathan J; Ross, Owen A OA; Komolafe, Morenikeji A MA; Tromp, Gerard G; Bardien, Soraya S

Publication Date: 2020-02-04

Variant appearance in text: rs76537615

PubMed Link: 32019516

Variant Present in the following documents:

• Main text
• 12881_2020_Article_953.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: 4894C>T; Pro1632Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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