Publications:

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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: 7025A>G; Asn2342Ser

PubMed Link: 35428369

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1357.pdf

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: RYR1: 7025A>G; Asn2342Ser; rs147213895

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: RYR1: N2342S; rs147213895

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.

Scientific Reports

Hoppe, Kerstin K; Jurkat-Rott, Karin K; Kranepuhl, Stefanie S; Wearing, Scott S; Heiderich, Sebastian S; Merlak, Sonja S; Klingler, Werner W

Publication Date: 2021-02-09

Variant appearance in text: MHS: Asn2342Ser

PubMed Link: 33564012

Variant Present in the following documents:

• Main text
• 41598_2021_Article_82024.pdf

View BVdb publication page

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Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function.

Frontiers In Genetics

Graham, Brittany B; Shaw, Marie-Anne MA; Hope, Ian A IA

Publication Date: 2020

Variant appearance in text: RYR1: N2342S

PubMed Link: 32174957

Variant Present in the following documents:

• Main text
• fgene-11-00037.pdf

View BVdb publication page

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RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.

Biomed Research International

Zullo, Alberto A; Perrotta, Giuseppa G; D'Angelo, Rossana R; Ruggiero, Lucia L; Gravino, Elvira E; Del Vecchio, Luigi L; Santoro, Lucio L; Salvatore, Francesco F; Carsana, Antonella A

Publication Date: 2019

Variant appearance in text: MHS: Asn2342Ser

PubMed Link: 31165076

Variant Present in the following documents:

• Main text
• BMRI2019-7638946.pdf

View BVdb publication page

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The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Journal Of Neurology

Knuiman, G J GJ; Küsters, B B; Eshuis, L L; Snoeck, M M; Lammens, M M; Heytens, L L; De Ridder, W W; Baets, J J; Scalco, R S RS; Quinlivan, R R; Holton, J J; Bodi, I I; Wraige, E E; Radunovic, A A; von Landenberg, C C; Reimann, J J; Kamsteeg, E-J EJ; Sewry, C C; Jungbluth, H H; Voermans, N C NC

Publication Date: 2019-04

Variant appearance in text: RYR1: 7025A>G

PubMed Link: 30788618

Variant Present in the following documents:

• Main text
• 415_2019_Article_9209.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: RYR1: N2342S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 2
• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 3
• mmc6.xlsx, sheet 4

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: 7025A>G; N2342S; rs147213895

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

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Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia

Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM

Publication Date: 2018-10

Variant appearance in text: RYR1: 7025A>G; Asn2342Ser

PubMed Link: 30236257

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: Asn2342Ser

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: 7025A>G; Asn2342Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation.

World Journal Of Critical Care Medicine

Heytens, Karel K; De Bleecker, Jan J; Verbrugghe, Walter W; Baets, Jonathan J; Heytens, Luc L

Publication Date: 2017-02-04

Variant appearance in text: RYR1: 7025A>G

PubMed Link: 28224104

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers.

Scientific Reports

Borad, Mitesh J MJ; Egan, Jan B JB; Condjella, Rachel M RM; Liang, Winnie S WS; Fonseca, Rafael R; Ritacca, Nicole R NR; McCullough, Ann E AE; Barrett, Michael T MT; Hunt, Katherine S KS; Champion, Mia D MD; Patel, Maitray D MD; Young, Scott W SW; Silva, Alvin C AC; Ho, Thai H TH; Halfdanarson, Thorvardur R TR; McWilliams, Robert R RR; Lazaridis, Konstantinos N KN; Ramanathan, Ramesh K RK; Baker, Angela A; Aldrich, Jessica J; Kurdoglu, Ahmet A; Izatt, Tyler T; Christoforides, Alexis A; Cherni, Irene I; Nasser, Sara S; Reiman, Rebecca R; Cuyugan, Lori L; McDonald, Jacquelyn J; Adkins, Jonathan J; Mastrian, Stephen D SD; Valdez, Riccardo R; Jaroszewski, Dawn E DE; Von Hoff, Daniel D DD; Craig, David W DW; Stewart, A Keith AK; Carpten, John D JD; Bryce, Alan H AH

Publication Date: 2016-12-23

Variant appearance in text: RYR1: 7025A>G; Asn2342Ser

PubMed Link: 28003660

Variant Present in the following documents:

• 41598_2016_21_MOESM1_ESM.pdf

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: N2342S; rs147213895

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: RYR1: 7025A>G; rs147213895

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, 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: N2342S

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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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: RYR1: N2342S; rs147213895

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

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: N2342S

PubMed Link: 25517095

Variant Present in the following documents:

• NIHMS61019-supplement-Supplementary_Table_1.pdf

View BVdb publication page

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Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Orphanet Journal Of Rare Diseases

Klingler, Werner W; Heiderich, Sebastian S; Girard, Thierry T; Gravino, Elvira E; Heffron, James Ja JJ; Johannsen, Stephan S; Jurkat-Rott, Karin K; Rüffert, Henrik H; Schuster, Frank F; Snoeck, Marc M; Sorrentino, Vincenzo V; Tegazzin, Vincenzo V; Lehmann-Horn, Frank F

Publication Date: 2014-01-16

Variant appearance in text: MHS: 7025A>G

PubMed Link: 24433488

Variant Present in the following documents:

• Main text
• 1750-1172-9-8.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: 7025A>G; Asn2342Ser

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 2

View BVdb publication page

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An integrated diagnosis strategy for congenital myopathies.

Plos One

Böhm, Johann J; Vasli, Nasim N; Malfatti, Edoardo E; Le Gras, Stéphanie S; Feger, Claire C; Jost, Bernard B; Monnier, Nicole N; Brocard, Julie J; Karasoy, Hatice H; Gérard, Marion M; Walter, Maggie C MC; Reilich, Peter P; Biancalana, Valérie V; Kretz, Christine C; Messaddeq, Nadia N; Marty, Isabelle I; Lunardi, Joël J; Romero, Norma B NB; Laporte, Jocelyn J

Publication Date: 2013

Variant appearance in text: RYR1: Asn2342Ser; rs147213895

PubMed Link: 23826317

Variant Present in the following documents:

• Main text
• pone.0067527.pdf

View BVdb publication page

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Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Anesthesia And Analgesia

Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM

Publication Date: 2013-05

Variant appearance in text: RYR1: Asn2342Ser

PubMed Link: 23558838

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscular Disorders : Nmd

Zhou, Haiyan H; Lillis, Suzanne S; Loy, Ryan E RE; Ghassemi, Farshid F; Rose, Michael R MR; Norwood, Fiona F; Mills, Kerry K; Al-Sarraj, Safa S; Lane, Russell J M RJ; Feng, Lucy L; Matthews, Emma E; Sewry, Caroline A CA; Abbs, Stephen S; Buk, Stefan S; Hanna, Michael M; Treves, Susan S; Dirksen, Robert T RT; Meissner, Gerhard G; Muntoni, Francesco F; Jungbluth, Heinz H

Publication Date: 2010-03

Variant appearance in text: RYR1: 7025A>G

PubMed Link: 20080402

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of CACNA1S in predisposition to malignant hyperthermia.

Bmc Medical Genetics

Carpenter, Danielle D; Ringrose, Christopher C; Leo, Vincenzo V; Morris, Andrew A; Robinson, Rachel L RL; Halsall, P Jane PJ; Hopkins, Philip M PM; Shaw, Marie-Anne MA

Publication Date: 2009-10-13

Variant appearance in text: RYR1: 7025A>G

PubMed Link: 19825159

Variant Present in the following documents:

• Main text
• 1471-2350-10-104.pdf

View BVdb publication page

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