Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: RYR1: 12083C>T; Ser4028Leu

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: RYR1: 12083C>T; S4028L

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation.

Acta Neuropathologica Communications

Yuan, Qi Q; Dridi, Haikel H; Clarke, Oliver B OB; Reiken, Steven S; Melville, Zephan Z; Wronska, Anetta A; Kushnir, Alexander A; Zalk, Ran R; Sittenfeld, Leah L; Marks, Andrew R AR

Publication Date: 2021-11-22

Variant appearance in text: RYR1: S4028L

PubMed Link: 34809703

Variant Present in the following documents:

• Main text
• 40478_2021_Article_1287.pdf

View BVdb publication page

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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: 12083C>T; rs794728696

PubMed Link: 34535181

Variant Present in the following documents:

• Main text
• 40478_2021_Article_1254.pdf

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: Ser4028Leu

PubMed Link: 34463354

Variant Present in the following documents:

• Main text
• CGE-100-692.pdf

View BVdb publication page

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Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.

Journal Of Neuromuscular Diseases

Lawal, Tokunbor A TA; Patankar, Aneesh A; Todd, Joshua J JJ; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Waite, Melissa R MR; Jain, Minal S MS; Emile-Backer, Magalie M; Witherspoon, Jessica W JW; Liu, Chia-Ying CY; Grunseich, Christopher C; Meilleur, Katherine G KG

Publication Date: 2021

Variant appearance in text: RYR1: 12083C>T; Ser4028Leu

PubMed Link: 33646171

Variant Present in the following documents:

• Main text
• jnd-8-jnd200549.pdf

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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Acta Neuropathologica

Kushnir, Alexander A; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Yuan, Qi Q; Reiken, Steven S; Lin, Harvey H; Munce, Ross H RH; Wajsberg, Benjamin B; Melville, Zephan Z; Clarke, Oliver B OB; Wedderburn-Pugh, Kaylee K; Wronska, Anetta A; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Shelton, Monique O MO; Mankodi, Ami A; Grunseich, Christopher C; Tarnopolsky, Mark A MA; Tanji, Kurenai K; Hirano, Michio M; Riazi, Sheila S; Kraeva, Natalia N; Voermans, Nicol C NC; Gruber, Angela A; Allen, Carolyn C; Meilleur, Katherine G KG; Marks, Andrew R AR

Publication Date: 2020-06

Variant appearance in text: RYR1: 12083C>T; Ser4028Leu

PubMed Link: 32236737

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Journal Of Neurology

Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG

Publication Date: 2018-11

Variant appearance in text: RYR1: Ser4028Leu

PubMed Link: 30155738

Variant Present in the following documents:

• Main text
• 415_2018_Article_9033.pdf
• 415_2018_9033_MOESM3_ESM.pdf
• 415_2018_9033_MOESM1_ESM.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: 12083C>T; Ser4028Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: RYR1: S4028L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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