Publications:

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: RYR2: G1886S; rs3766871

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 14
• can-22-2224_table_s8_suppst8.xlsx, sheet 8
• can-22-2224_table_s8_suppst8.xlsx, sheet 11
• can-22-2224_table_s8_suppst8.xlsx, sheet 19

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs3766871

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs3766871

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality.

Orphanet Journal Of Rare Diseases

Chen, Jia J; Ma, Yuting Y; Li, Hong H; Lin, Zhuo Z; Yang, Zhe Z; Zhang, Qin Q; Wang, Feng F; Lin, Yanping Y; Ye, Zebing Z; Lin, Yubi Y

Publication Date: 2022-05-07

Variant appearance in text: RYR2: G1886S

PubMed Link: 35526016

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2348.pdf

View BVdb publication page

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"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease

Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC

Publication Date: 2021-11-01

Variant appearance in text: ARVD2: G1886S

PubMed Link: 34725342

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4337.pdf

View BVdb publication page

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"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease

Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC

Publication Date: 2021-11-01

Variant appearance in text: ARVD2: G1886S

PubMed Link: 34725342

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4337.pdf

View BVdb publication page

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Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine

He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G

Publication Date: 2021-09-21

Variant appearance in text: RYR2: G1886S

PubMed Link: 34622229

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Role of induced pluripotent stem cells in diagnostic cardiology.

World Journal Of Stem Cells

Karch, Steven B SB; Fineschi, Vittorio V; Francia, Pietro P; Scopetti, Matteo M; Padovano, Martina M; Manetti, Federico F; Santurro, Alessandro A; Frati, Paola P; Volpe, Massimo M

Publication Date: 2021-05-26

Variant appearance in text: RYR2: 5656G>A; G1886S; rs3766871

PubMed Link: 34136069

Variant Present in the following documents:

• Main text
• WJSC-13-331.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: RYR2: 5656G>A; G1886S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Calcium as a Key Player in Arrhythmogenic Cardiomyopathy: Adhesion Disorder or Intracellular Alteration?

International Journal Of Molecular Sciences

Moccia, Francesco F; Lodola, Francesco F; Stadiotti, Ilaria I; Pilato, Chiara Assunta CA; Bellin, Milena M; Carugo, Stefano S; Pompilio, Giulio G; Sommariva, Elena E; Maione, Angela Serena AS

Publication Date: 2019-08-16

Variant appearance in text: RYR2: G1886S

PubMed Link: 31426283

Variant Present in the following documents:

• Main text
• ijms-20-03986.pdf

View BVdb publication page

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Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.

Journal Of Biomedical Science

Osman, Junaida J; Tan, Shing Cheng SC; Lee, Pey Yee PY; Low, Teck Yew TY; Jamal, Rahman R

Publication Date: 2019-05-22

Variant appearance in text: RYR2: Gly1886Ser; rs3766871

PubMed Link: 31118017

Variant Present in the following documents:

• Main text
• 12929_2019_Article_535.pdf

View BVdb publication page

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Usefulness of Single Nucleotide Polymorphisms as Predictors of Sudden Cardiac Death.

The American Journal Of Cardiology

Tamariz, Leonardo L; Balda, Javier J; Pareja, Dennise D; Palacio, Ana A; Myerburg, Robert J RJ; Conway, Douglas D; Davis, Lea L; Goldberger, Jeffrey J JJ

Publication Date: 2019-06-15

Variant appearance in text: rs3766871

PubMed Link: 31053292

Variant Present in the following documents:

• Main text

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: RYR2: 5656G>A; Gly1886Ser

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: RYR2: 5656G>A; Gly1886Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: RYR2: G1886S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.

Plos One

Roston, Thomas M TM; Haji-Ghassemi, Omid O; LaPage, Martin J MJ; Batra, Anjan S AS; Bar-Cohen, Yaniv Y; Anderson, Chris C; Lau, Yung R YR; Maginot, Kathleen K; Gebauer, Roman A RA; Etheridge, Susan P SP; Potts, James E JE; Van Petegem, Filip F; Sanatani, Shubhayan S

Publication Date: 2018

Variant appearance in text: RYR2: G1886S

PubMed Link: 30403697

Variant Present in the following documents:

• Main text
• pone.0205925.pdf

View BVdb publication page

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Associations between common ion channel single nucleotide polymorphisms and sudden cardiac death in adults: A MOOSE-compliant meta-analysis.

Medicine

Liu, Xiaoli X; Shi, Jianli J; Xiao, Peilin P

Publication Date: 2018-09

Variant appearance in text: rs3766871

PubMed Link: 30235722

Variant Present in the following documents:

• Main text
• medi-97-e12428.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: RYR2: 5656G>A; G1886S; rs3766871

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: RYR2: G1886S; rs3766871

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

View BVdb publication page

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Longitudinal exome-wide association study to identify genetic susceptibility loci for hypertension in a Japanese population.

Experimental & Molecular Medicine

Yasukochi, Yoshiki Y; Sakuma, Jun J; Takeuchi, Ichiro I; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Yamada, Yoshiji Y

Publication Date: 2017-12-08

Variant appearance in text: rs3766871

PubMed Link: 29217820

Variant Present in the following documents:

• Main text
• emm2017209a.pdf

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: RYR2: G1886S; rs3766871

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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: RYR2: 5656G>A; Gly1886Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2).

Molecular And Cellular Endocrinology

Fejzo, Marlena Schoenberg MS; Myhre, Ronny R; Colodro-Conde, Lucía L; MacGibbon, Kimber W KW; Sinsheimer, Janet S JS; Reddy, M V Prasad Linga MVPL; Pajukanta, Päivi P; Nyholt, Dale R DR; Wright, Margaret J MJ; Martin, Nicholas G NG; Engel, Stephanie M SM; Medland, Sarah E SE; Magnus, Per P; Mullin, Patrick M PM

Publication Date: 2017-01-05

Variant appearance in text: RYR2: 5656G>A; Gly1886Ser; rs3766871

PubMed Link: 27663074

Variant Present in the following documents:

• Main text

View BVdb publication page

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RyR2 QQ2958 Genotype and Risk of Malignant Ventricular Arrhythmias.

Cardiology Research And Practice

Galati, Francesca F; Galati, Antonio A; Massari, Serafina S

Publication Date: 2016

Variant appearance in text: ARVD2: G1886S; rs3766871

PubMed Link: 26904356

Variant Present in the following documents:

• Main text
• CRP2016-2868604.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: rs3766871

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: RYR2: G1886S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Common Variants in TRDN and CALM1 Are Associated with Risk of Sudden Cardiac Death in Chronic Heart Failure Patients in Chinese Han Population.

Plos One

Liu, Zhouying Z; Liu, Xiaoyan X; Yu, Haiyun H; Pei, Juanhui J; Zhang, Yinhui Y; Gong, Jing J; Pu, Jielin J

Publication Date: 2015

Variant appearance in text: rs3766871

PubMed Link: 26196381

Variant Present in the following documents:

• Main text
• pone.0132459.pdf

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs3766871

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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: RYR2: G1886S; rs3766871

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings

Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ

Publication Date: 2012-06

Variant appearance in text: RYR2: G1886S

PubMed Link: 22677073

Variant Present in the following documents:

• Main text

View BVdb publication page

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The interaction of Ca2+ with sarcomeric proteins: role in function and dysfunction of the heart.

American Journal Of Physiology. Heart And Circulatory Physiology

ter Keurs, Hendrick E D J HE

Publication Date: 2012-01-01

Variant appearance in text: rs3766871

PubMed Link: 22021327

Variant Present in the following documents:

• Main text

View BVdb publication page

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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Journal Of The American College Of Cardiology

Medeiros-Domingo, Argelia A; Bhuiyan, Zahurul A ZA; Tester, David J DJ; Hofman, Nynke N; Bikker, Hennie H; van Tintelen, J Peter JP; Mannens, Marcel M A M MM; Wilde, Arthur A M AA; Ackerman, Michael J MJ

Publication Date: 2009-11-24

Variant appearance in text: RYR2: G1886S

PubMed Link: 19926015

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ryanodine receptor-mediated arrhythmias and sudden cardiac death.

Pharmacology & Therapeutics

Blayney, Lynda M LM; Lai, F Anthony FA

Publication Date: 2009-08

Variant appearance in text: ARVD2: G1886S

PubMed Link: 19345240

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: RYR2: G1886S; rs3766871

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2

View BVdb publication page

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ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.

Biophysical Journal

Koop, Andrea A; Goldmann, Petra P; Chen, S R Wayne SR; Thieleczek, Rolf R; Varsányi, Magdolna M

Publication Date: 2008-06

Variant appearance in text: RYR2: G1886S

PubMed Link: 18326664

Variant Present in the following documents:

• Main text
• 4668.pdf

View BVdb publication page

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