Publications:

Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.

Journal Of Medical Genetics

Hong, Sung Eun SE; Kneissl, Jana J; Cho, Anna A; Kim, Man Jin MJ; Park, Soojin S; Lee, Jeongeun J; Woo, Sijae S; Kim, Sora S; Kim, Jun-Soon JS; Kim, Soo Yeon SY; Jung, Sungwon S; Kim, Jinkuk J; Shin, Je-Young JY; Chae, Jong-Hee JH; Choi, Murim M

Publication Date: 2022-11

Variant appearance in text: RYR1: 9413C>T; Pro3138Leu; rs762652935

PubMed Link: 35387801

Variant Present in the following documents:

• jmedgenet-2021-108307supp001.xlsx, sheet 2

View BVdb publication page

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Acta Neuropathologica Communications

Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB

Publication Date: 2019-01-05

Variant appearance in text: RYR1: 9413C>T; P3138L; rs762652935

PubMed Link: 30611313

Variant Present in the following documents:

• Main text
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 2
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 8
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 7
• 40478_2018_Article_655.pdf
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 6
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 3
• 40478_2018_655_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases

Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ

Publication Date: 2013-08-06

Variant appearance in text: MHS: 9413C>T

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 2
• 1750-1172-8-117-S1.xlsx, sheet 1

View BVdb publication page