Publications:

---

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: 14473C>T; Arg4825Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: RYR1: 14473C>T; Arg4825Cys

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.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: 14473C>T

PubMed Link: 35693006

Variant Present in the following documents:

• Main text
• fneur-13-870285.pdf

View BVdb publication page

---

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Acta Neuropathologica Communications

Fusto, Aurora A; Cassandrini, Denise D; Fiorillo, Chiara C; Codemo, Valentina V; Astrea, Guja G; D'Amico, Adele A; Maggi, Lorenzo L; Magri, Francesca F; Pane, Marika M; Tasca, Giorgio G; Sabbatini, Daniele D; Bello, Luca L; Battini, Roberta R; Bernasconi, Pia P; Fattori, Fabiana F; Bertini, Enrico Silvio ES; Comi, Giacomo G; Messina, Sonia S; Mongini, Tiziana T; Moroni, Isabella I; Panicucci, Chiara C; Berardinelli, Angela A; Donati, Alice A; Nigro, Vincenzo V; Pini, Antonella A; Giannotta, Melania M; Dosi, Claudia C; Ricci, Enzo E; Mercuri, Eugenio E; Minervini, Giovanni G; Tosatto, Silvio S; Santorelli, Filippo F; Bruno, Claudio C; Pegoraro, Elena E

Publication Date: 2022-04-15

Variant appearance in text: RYR1: 14473C>T; Arg4825Cys

PubMed Link: 35428369

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1357.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: 14473C>T; Arg4825Cys

PubMed Link: 35081925

Variant Present in the following documents:

• Main text
• 12887_2021_Article_3024.pdf

View BVdb publication page

---

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: RYR1: 14473C>T; R4825C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

---

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: R4825C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

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: R4825C

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

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: RYR1: 14473C>T

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 1

View BVdb publication page

---

Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.

Thescientificworldjournal

Carsana, Antonella A

Publication Date: 2013

Variant appearance in text: MHS: 14473C>T

PubMed Link: 23476141

Variant Present in the following documents:

• Main text
• TSWJ2013-531465.pdf

View BVdb publication page

---