Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: RYR1: 8327C>T; Ser2776Phe
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: 8327C>T; Ser2776Phe
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: 8327C>T; Ser2776Phe
The genomic landscapes of individual melanocytes from human skin.
Nature
Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH
Publication Date: 2020-10
Variant appearance in text: RYR1: S2776F; rs147707463
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Journal Of Neurology
Knuiman, G J GJ; Küsters, B B; Eshuis, L L; Snoeck, M M; Lammens, M M; Heytens, L L; De Ridder, W W; Baets, J J; Scalco, R S RS; Quinlivan, R R; Holton, J J; Bodi, I I; Wraige, E E; Radunovic, A A; von Landenberg, C C; Reimann, J J; Kamsteeg, E-J EJ; Sewry, C C; Jungbluth, H H; Voermans, N C NC
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: RYR1: S2776F; rs147707463
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: 8327C>T; rs147707463