Publications:

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: S1485N; rs1317036540

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.

Frontiers In Neurology

Chang, Xingzhi X; Wei, Risheng R; Wei, Cuijie C; Liu, Jieyu J; Qin, Lun L; Yan, Hui H; Ma, Yinan Y; Wang, Zhaoxia Z; Xiong, Hui H

Publication Date: 2022

Variant appearance in text: RYR1: 4454G>A

PubMed Link: 35693006

Variant Present in the following documents:

• Main text
• fneur-13-870285.pdf

View BVdb publication page

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.

Bmc Pediatrics

Zhang, Yu Y; Yan, Hui H; Liu, Jieyu J; Yan, Huifang H; Ma, Yinan Y; Wei, Cuijie C; Wang, Zhaoxia Z; Xiong, Hui H; Chang, Xingzhi X

Publication Date: 2022-01-26

Variant appearance in text: RYR1: Ser1485Asn

PubMed Link: 35081925

Variant Present in the following documents:

• Main text
• 12887_2021_Article_3024.pdf

View BVdb publication page

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: Ser1485Asn

PubMed Link: 34463354

Variant Present in the following documents:

• Main text
• CGE-100-692.pdf

View BVdb publication page