Publications:

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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: 13949T>C; Leu4650Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: RYR1: 13949T>C; Leu4650Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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'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: 13949T>C; L4650P; rs118192138

PubMed Link: 30611313

Variant Present in the following documents:

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

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: MHS1: L4650P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RYR1: L4650P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Nature

Yan, Zhen Z; Bai, Xiaochen X; Yan, Chuangye C; Wu, Jianping J; Li, Zhangqiang Z; Xie, Tian T; Peng, Wei W; Yin, Changcheng C; Li, Xueming X; Scheres, Sjors H W SHW; Shi, Yigong Y; Yan, Nieng N

Publication Date: 2015-01-01

Variant appearance in text: MHS1: L4650P

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

View BVdb publication page

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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: RYR1: 13949T>C

PubMed Link: 23919265

Variant Present in the following documents:

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

View BVdb publication page

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