Publications:

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Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Frontiers In Neurology

Bar, Omri O; Ebenau, Laurie L; Weiner, Kellee K; Mintz, Mark M; Boles, Richard G RG

Publication Date: 2023

Variant appearance in text: CACNA1S: Thr1354Ser

PubMed Link: 37234784

Variant Present in the following documents:

• Main text
• fneur-14-1151835.pdf

View BVdb publication page

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A reconstituted depolarization-induced Ca2+ release platform for validation of skeletal muscle disease mutations and drug discovery.

The Journal Of General Physiology

Murayama, Takashi T; Kurebayashi, Nagomi N; Numaga-Tomita, Takuro T; Kobayashi, Takuya T; Okazaki, Satoru S; Yamashiro, Kyosuke K; Nakada, Tsutomu T; Mori, Shuichi S; Ishida, Ryosuke R; Kagechika, Hiroyuki H; Yamada, Mitsuhiko M; Sakurai, Takashi T

Publication Date: 2022-12-05

Variant appearance in text: Cav1.1: T1354S

PubMed Link: 36318155

Variant Present in the following documents:

• Main text
• JGP_202213230.pdf

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: CACNA1S: 4060A>T; Thr1354Ser

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report.

Cureus

Benítez-Alonso, Edmar O EO; López-Hernández, Juan C JC; Galnares-Olalde, Javier A JA; Alcalá, Raúl E RE; Vargas-Cañas, Edwin S ES

Publication Date: 2022-04

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 35509735

Variant Present in the following documents:

• cureus-0014-00000023760.pdf

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: CACNA1S: 4060A>T

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

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: CACNA1S: 4060A>T; Thr1354Ser; rs145910245

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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CACNA1S haploinsufficiency confers resistance to New World arenavirus infection.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sarute, Nicolás N; Ross, Susan R SR

Publication Date: 2020-08-11

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 32719120

Variant Present in the following documents:

• Main text

View BVdb publication page

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Skeletal muscle CaV1.1 channelopathies.

Pflugers Archiv : European Journal Of Physiology

Flucher, Bernhard E BE

Publication Date: 2020-07

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 32222817

Variant Present in the following documents:

• Main text
• 424_2020_Article_2368.pdf

View BVdb publication page

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PharmGKB summary: very important pharmacogene information for CACNA1S.

Pharmacogenetics And Genomics

Sangkuhl, Katrin K; Dirksen, Robert T RT; Alvarellos, Maria L ML; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2020-02

Variant appearance in text: CACNA1S: Thr1354Ser; rs145910245

PubMed Link: 31851124

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene.

Stem Cell Research

Li, Rong R; Pradhan, Manisha M; Xu, Miao M; Baskfield, Amanda A; Farkhondeh, Atena A; Cheng, Yu-Shan YS; Beers, Jeanette J; Zou, Jizhong J; Liu, Chengyu C; Might, Matthew M; Rodems, Steven S; Zheng, Wei W

Publication Date: 2019-01

Variant appearance in text: CACNA1S: 4060A>T; Thr1354Ser

PubMed Link: 30612078

Variant Present in the following documents:

• Main text

View BVdb publication page

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Abnormal calcium signalling and the caffeine-halothane contracture test.

British Journal Of Anaesthesia

Figueroa, L L; Kraeva, N N; Manno, C C; Toro, S S; Ríos, E E; Riazi, S S

Publication Date: 2019-01

Variant appearance in text: CACNA1S: T1354S; rs145910245

PubMed Link: 30579404

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: CACNA1S: 4060A>T; rs145910245

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Functional and structural characterization of a novel malignant hyperthermia-susceptible variant of DHPR-β1a subunit (CACNB1).

American Journal Of Physiology. Cell Physiology

Perez, Claudio F CF; Eltit, Jose M JM; Lopez, Jose R JR; Bodnár, Dóra D; Dulhunty, Angela F AF; Aditya, Shouvik S; Casarotto, Marco G MG

Publication Date: 2018-03-01

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 29212769

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.

Biophysical Journal

Monteleone, Stefania S; Lieb, Andreas A; Pinggera, Alexandra A; Negro, Giulia G; Fuchs, Julian E JE; Hofer, Florian F; Striessnig, Jörg J; Tuluc, Petronel P; Liedl, Klaus R KR

Publication Date: 2017-10-03

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 28978442

Variant Present in the following documents:

• main.pdf
• mmc2.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: CACNA1S: 4060A>T; Thr1354Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: CACNA1S: T1354S; rs145910245

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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Excitation-Contraction Coupling Alterations in Myopathies.

Journal Of Neuromuscular Diseases

Marty, Isabelle I; Fauré, Julien J

Publication Date: 2016-11-29

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 27911331

Variant Present in the following documents:

• jnd-3-jnd160172.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CACNA1S: 4060A>T; T1354S; rs145910245

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.

British Journal Of Anaesthesia

Schiemann, A H AH; Stowell, K M KM

Publication Date: 2016-07

Variant appearance in text: CACNA1S: 4060A>T; T1354S

PubMed Link: 27147545

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: CACNA1S: T1354S; rs145910245

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 3

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: CACNA1S: 4060A>T; Thr1354Ser; rs145910245

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs145910245

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Research

Amendola, Laura M LM; Dorschner, Michael O MO; Robertson, Peggy D PD; Salama, Joseph S JS; Hart, Ragan R; Shirts, Brian H BH; Murray, Mitzi L ML; Tokita, Mari J MJ; Gallego, Carlos J CJ; Kim, Daniel Seung DS; Bennett, James T JT; Crosslin, David R DR; Ranchalis, Jane J; Jones, Kelly L KL; Rosenthal, Elisabeth A EA; Jarvik, Ella R ER; Itsara, Andy A; Turner, Emily H EH; Herman, Daniel S DS; Schleit, Jennifer J; Burt, Amber A; Jamal, Seema M SM; Abrudan, Jenica L JL; Johnson, Andrew D AD; Conlin, Laura K LK; Dulik, Matthew C MC; Santani, Avni A; Metterville, Danielle R DR; Kelly, Melissa M; Foreman, Ann Katherine M AK; Lee, Kristy K; Taylor, Kent D KD; Guo, Xiuqing X; Crooks, Kristy K; Kiedrowski, Lesli A LA; Raffel, Leslie J LJ; Gordon, Ora O; Machini, Kalotina K; Desnick, Robert J RJ; Biesecker, Leslie G LG; Lubitz, Steven A SA; Mulchandani, Surabhi S; Cooper, Greg M GM; Joffe, Steven S; Richards, C Sue CS; Yang, Yaoping Y; Rotter, Jerome I JI; Rich, Stephen S SS; O'Donnell, Christopher J CJ; Berg, Jonathan S JS; Spinner, Nancy B NB; Evans, James P JP; Fullerton, Stephanie M SM; Leppig, Kathleen A KA; Bennett, Robin L RL; Bird, Thomas T; Sybert, Virginia P VP; Grady, William M WM; Tabor, Holly K HK; Kim, Jerry H JH; Bamshad, Michael J MJ; Wilfond, Benjamin B; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom D TD; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Rehm, Heidi H; Nickerson, Debbie A DA; Jarvik, Gail P GP

Publication Date: 2015-03

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 25637381

Variant Present in the following documents:

• Main text
• 305.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lawrence, Lauren L; Sincan, Murat M; Markello, Thomas T; Adams, David R DR; Gill, Fred F; Godfrey, Rena R; Golas, Gretchen G; Groden, Catherine C; Landis, Dennis D; Nehrebecky, Michele M; Park, Grace G; Soldatos, Ariane A; Tifft, Cynthia C; Toro, Camilo C; Wahl, Colleen C; Wolfe, Lynne L; Gahl, William A WA; Boerkoel, Cornelius F CF

Publication Date: 2014-10

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 24784157

Variant Present in the following documents:

• Main text
• nihms571296.pdf

View BVdb publication page

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Using exome data to identify malignant hyperthermia susceptibility mutations.

Anesthesiology

Gonsalves, Stephen G SG; Ng, David D; Johnston, Jennifer J JJ; Teer, Jamie K JK; Stenson, Peter D PD; Cooper, David N DN; Mullikin, James C JC; Biesecker, Leslie G LG; ,

Publication Date: 2013-11

Variant appearance in text: CACNA1S: Thr1354Ser

PubMed Link: 24195946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj

O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ

Publication Date: 2013

Variant appearance in text: CACNA1S: 4060A>T; Thr1354Ser

PubMed Link: 24109560

Variant Present in the following documents:

• peerj-01-177-s015.xlsx, sheet 1

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: CACNA1S: Thr1354Ser

PubMed Link: 23558838

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dantrolene-induced inhibition of skeletal L-type Ca2+ current requires RyR1 expression.

Biomed Research International

Bannister, R A RA

Publication Date: 2013

Variant appearance in text: CACNA1S: T1354S

PubMed Link: 23509717

Variant Present in the following documents:

• BMRI2013-390493.pdf

View BVdb publication page

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Ca(V)1.1: The atypical prototypical voltage-gated Ca²⁺ channel.

Biochimica Et Biophysica Acta

Bannister, Roger A RA; Beam, Kurt G KG

Publication Date: 2013-07

Variant appearance in text: Cav1.1: T1354S

PubMed Link: 22982493

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.

American Journal Of Physiology. Cell Physiology

Pirone, Antonella A; Schredelseker, Johann J; Tuluc, Petronel P; Gravino, Elvira E; Fortunato, Giuliana G; Flucher, Bernhard E BE; Carsana, Antonella A; Salvatore, Francesco F; Grabner, Manfred M

Publication Date: 2010-12

Variant appearance in text: CACNA1S: 4060A>T

PubMed Link: 20861472

Variant Present in the following documents:

• Main text

View BVdb publication page

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