Publications:

---

A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: RYR2: Q2958R

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

---

Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.

Nature Communications

Young, William J WJ; Haessler, Jeffrey J; Benjamins, Jan-Walter JW; Repetto, Linda L; Yao, Jie J; Isaacs, Aaron A; Harper, Andrew R AR; Ramirez, Julia J; Garnier, Sophie S; van Duijvenboden, Stefan S; Baldassari, Antoine R AR; Concas, Maria Pina MP; Duong, ThuyVy T; Foco, Luisa L; Isaksen, Jonas L JL; Mei, Hao H; Noordam, Raymond R; Nursyifa, Casia C; Richmond, Anne A; Santolalla, Meddly L ML; Sitlani, Colleen M CM; Soroush, Negin N; Thériault, Sébastien S; Trompet, Stella S; Aeschbacher, Stefanie S; Ahmadizar, Fariba F; Alonso, Alvaro A; Brody, Jennifer A JA; Campbell, Archie A; Correa, Adolfo A; Darbar, Dawood D; De Luca, Antonio A; Deleuze, Jean-François JF; Ellervik, Christina C; Fuchsberger, Christian C; Goel, Anuj A; Grace, Christopher C; Guo, Xiuqing X; Hansen, Torben T; Heckbert, Susan R SR; Jackson, Rebecca D RD; Kors, Jan A JA; Lima-Costa, Maria Fernanda MF; Linneberg, Allan A; Macfarlane, Peter W PW; Morrison, Alanna C AC; Navarro, Pau P; Porteous, David J DJ; Pramstaller, Peter P PP; Reiner, Alexander P AP; Risch, Lorenz L; Schotten, Ulrich U; Shen, Xia X; Sinagra, Gianfranco G; Soliman, Elsayed Z EZ; Stoll, Monika M; Tarazona-Santos, Eduardo E; Tinker, Andrew A; Trajanoska, Katerina K; Villard, Eric E; Warren, Helen R HR; Whitsel, Eric A EA; Wiggins, Kerri L KL; Arking, Dan E DE; Avery, Christy L CL; Conen, David D; Girotto, Giorgia G; Grarup, Niels N; Hayward, Caroline C; Jukema, J Wouter JW; Mook-Kanamori, Dennis O DO; Olesen, Morten Salling MS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Pattaro, Cristian C; Ribeiro, Antonio Luiz P ALP; Rotter, Jerome I JI; Stricker, Bruno H BH; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Wilson, James G JG; Orini, Michele M; Charron, Philippe P; Watkins, Hugh H; Kooperberg, Charles C; Lin, Henry J HJ; Wilson, James F JF; Kanters, Jørgen K JK; Sotoodehnia, Nona N; Mifsud, Borbala B; Lambiase, Pier D PD; Tereshchenko, Larisa G LG; Munroe, Patricia B PB

Publication Date: 2023-03-14

Variant appearance in text: RYR2: 8873A>G; Gln2958Arg; rs34967813

PubMed Link: 36918541

Variant Present in the following documents:

• 41467_2023_36997_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

---

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: rs34967813

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: RYR2: Q2958R; rs34967813

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

---

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: rs34967813

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

View BVdb publication page

---

Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer

Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U

Publication Date: 2022-07-15

Variant appearance in text: RYR2: Gln2958Arg; rs34967813

PubMed Link: 35218560

Variant Present in the following documents:

• IJC-151-240-s001.xlsx, sheet 7

View BVdb publication page

---

SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: RYR2: Q2958R

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.

Stem Cell Reports

Brandão, Karina O KO; van den Brink, Lettine L; Miller, Duncan C DC; Grandela, Catarina C; van Meer, Berend J BJ; Mol, Mervyn P H MPH; de Korte, Tessa T; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Sala, Luca L; Verkerk, Arie O AO; Davis, Richard P RP

Publication Date: 2020-11-10

Variant appearance in text: rs34967813

PubMed Link: 33176122

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: RYR2: Q2958R

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Sequence variants with large effects on cardiac electrophysiology and disease.

Nature Communications

Norland, Kristjan K; Sveinbjornsson, Gardar G; Thorolfsdottir, Rosa B RB; Davidsson, Olafur B OB; Tragante, Vinicius V; Rajamani, Sridharan S; Helgadottir, Anna A; Gretarsdottir, Solveig S; van Setten, Jessica J; Asselbergs, Folkert W FW; Sverrisson, Jon Th JT; Stephensen, Sigurdur S SS; Oskarsson, Gylfi G; Sigurdsson, Emil L EL; Andersen, Karl K; Danielsen, Ragnar R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Arnar, David O DO; Sulem, Patrick P; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K

Publication Date: 2019-10-22

Variant appearance in text: RYR2: Gln2958Arg; rs34967813

PubMed Link: 31641117

Variant Present in the following documents:

• 41467_2019_12682_MOESM5_ESM.xlsx, sheet 1
• 41467_2019_12682_MOESM2_ESM.pdf

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: RYR2: 8873A>G; Gln2958Arg; rs34967813

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: RYR2: Q2958R; rs34967813

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 8873A>G; Q2958R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 8873A>G; Gln2958Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

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: RYR2: Q2958R; rs34967813

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: RYR2: 8873A>G; rs34967813

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

---

Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use.

Biological Psychiatry

Brazel, David M DM; Jiang, Yu Y; Hughey, Jordan M JM; Turcot, Valérie V; Zhan, Xiaowei X; Gong, Jian J; Batini, Chiara C; Weissenkampen, J Dylan JD; Liu, MengZhen M; , ; , ; Barnes, Daniel R DR; Bertelsen, Sarah S; Chou, Yi-Ling YL; Erzurumluoglu, A Mesut AM; Faul, Jessica D JD; Haessler, Jeff J; Hammerschlag, Anke R AR; Hsu, Chris C; Kapoor, Manav M; Lai, Dongbing D; Le, Nhung N; de Leeuw, Christiaan A CA; Loukola, Anu A; Mangino, Massimo M; Melbourne, Carl A CA; Pistis, Giorgio G; Qaiser, Beenish B; Rohde, Rebecca R; Shao, Yaming Y; Stringham, Heather H; Wetherill, Leah L; Zhao, Wei W; Agrawal, Arpana A; Bierut, Laura L; Chen, Chu C; Eaton, Charles B CB; Goate, Alison A; Haiman, Christopher C; Heath, Andrew A; Iacono, William G WG; Martin, Nicholas G NG; Polderman, Tinca J TJ; Reiner, Alex A; Rice, John J; Schlessinger, David D; Scholte, H Steven HS; Smith, Jennifer A JA; Tardif, Jean-Claude JC; Tindle, Hilary A HA; van der Leij, Andries R AR; Boehnke, Michael M; Chang-Claude, Jenny J; Cucca, Francesco F; David, Sean P SP; Foroud, Tatiana T; Howson, Joanna M M JMM; Kardia, Sharon L R SLR; Kooperberg, Charles C; Laakso, Markku M; Lettre, Guillaume G; Madden, Pamela P; McGue, Matt M; North, Kari K; Posthuma, Danielle D; Spector, Timothy T; Stram, Daniel D; Tobin, Martin D MD; Weir, David R DR; Kaprio, Jaakko J; Abecasis, Gonçalo R GR; Liu, Dajiang J DJ; Vrieze, Scott S

Publication Date: 2019-06-01

Variant appearance in text: rs34967813

PubMed Link: 30679032

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: RYR2: Q2958R; rs34967813

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: RYR2: Q2958R; rs34967813

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

---

Leaky RyR2 channels unleash a brainstem spreading depolarization mechanism of sudden cardiac death.

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

Aiba, Isamu I; Wehrens, Xander H T XH; Noebels, Jeffrey L JL

Publication Date: 2016-08-16

Variant appearance in text: RYR2: Q2958R

PubMed Link: 27482086

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Q2958R; rs34967813

PubMed Link: 26904356

Variant Present in the following documents:

• Main text
• CRP2016-2868604.pdf

View BVdb publication page

---

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: ARVD2: Q2958R; rs34967813

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: RYR2: Q2958R; rs34967813

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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: RYR2: Q2958R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: RYR2: Q2958R; rs34967813

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs34967813

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

---

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: RYR2: Q2958R; rs34967813

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: Q2958R; rs34967813

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.

Epilepsia

Klassen, Tara L TL; Bomben, Valerie C VC; Patel, Ankita A; Drabek, Janice J; Chen, Tim T TT; Gu, Wenli W; Zhang, Feng F; Chapman, Kevin K; Lupski, James R JR; Noebels, Jeffrey L JL; Goldman, A M AM

Publication Date: 2014-02

Variant appearance in text: RYR2: Q2958R; rs34967813

PubMed Link: 24372310

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs34967813

PubMed Link: 24109560

Variant Present in the following documents:

• peerj-01-177-s015.xlsx, sheet 1

View BVdb publication page

---

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: Q2958R

PubMed Link: 22677073

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.

Mayo Clinic Proceedings

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

Publication Date: 2011-10

Variant appearance in text: RYR2: Q2958R

PubMed Link: 21964171

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Q2958R

PubMed Link: 19926015

Variant Present in the following documents:

• Main text

View BVdb publication page

---