Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RYR1: 11958C>G; Asp3986Glu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Acta Neuropathologica Communications

Biancalana, Valérie V; Rendu, John J; Chaussenot, Annabelle A; Mecili, Helen H; Bieth, Eric E; Fradin, Mélanie M; Mercier, Sandra S; Michaud, Maud M; Nougues, Marie-Christine MC; Pasquier, Laurent L; Sacconi, Sabrina S; Romero, Norma B NB; Marcorelles, Pascale P; Authier, François Jérôme FJ; Gelot Bernabe, Antoinette A; Uro-Coste, Emmanuelle E; Cances, Claude C; Isidor, Bertrand B; Magot, Armelle A; Minot-Myhie, Marie-Christine MC; Péréon, Yann Y; Perrier-Boeswillwald, Julie J; Bretaudeau, Gilles G; Dondaine, Nicolas N; Bouzenard, Alison A; Pizzimenti, Mégane M; Eymard, Bruno B; Ferreiro, Ana A; Laporte, Jocelyn J; Fauré, Julien J; Böhm, Johann J

Publication Date: 2021-09-17

Variant appearance in text: RYR1: Asp3986Glu

PubMed Link: 34535181

Variant Present in the following documents:

• Main text
• 40478_2021_Article_1254.pdf

View BVdb publication page

---

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: 11958C>G; Asp3986Glu

PubMed Link: 33767344

Variant Present in the following documents:

• NIHMS1689967-supplement-Large_Excel_File.xls, sheet 5

View BVdb publication page

---

Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

British Journal Of Anaesthesia

Chang, Leon L; Daly, Catherine C; Miller, Dorota M DM; Allen, Paul D PD; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA

Publication Date: 2019-05

Variant appearance in text: RYR1: 11958C>G; rs193922842

PubMed Link: 30916033

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 11958C>G; Asp3986Glu

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

British Journal Of Anaesthesia

Merritt, A A; Booms, P P; Shaw, M-A MA; Miller, D M DM; Daly, C C; Bilmen, J G JG; Stowell, K M KM; Allen, P D PD; Steele, D S DS; Hopkins, P M PM

Publication Date: 2017-04-01

Variant appearance in text: RYR1: 11958C>G; D3986E

PubMed Link: 28403410

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: RYR1: 11958C>G; rs193922842

PubMed Link: 25658027

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Using exome data to identify malignant hyperthermia susceptibility mutations.

Anesthesiology

Gonsalves, Stephen G SG; Ng, David D; Johnston, Jennifer J JJ; Teer, Jamie K JK; Stenson, Peter D PD; Cooper, David N DN; Mullikin, James C JC; Biesecker, Leslie G LG; ,

Publication Date: 2013-11

Variant appearance in text: RYR1: 11958C>G

PubMed Link: 24195946

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Anesthesia And Analgesia

Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM

Publication Date: 2013-05

Variant appearance in text: N/A

PubMed Link: 23558838

Variant Present in the following documents:

View BVdb publication page

---