Publications:

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: CACNA1C: R1973Q

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1

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The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine

Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M

Publication Date: 2020

Variant appearance in text: CACNA1C: 5918G>A; Arg1973Gln

PubMed Link: 33110626

Variant Present in the following documents:

• 41525_2020_153_MOESM1_ESM.pdf

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An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.

Scientific Reports

Blancard, Malorie M; Debbiche, Amal A; Kato, Koichi K; Cardin, Christelle C; Sabrina, Guichard G; Gandjbakhch, Estelle E; Probst, Vincent V; Haissaguerre, Michel M; Extramiana, Fabrice F; Hocini, Mélèze M; Olivier, Geoffroy G; Leenhardt, Antoine A; Guicheney, Pascale P; Rougier, Jean-Sébastien JS

Publication Date: 2018-10-02

Variant appearance in text: CACNA1C: 5918G>A

PubMed Link: 30279520

Variant Present in the following documents:

• Main text
• 41598_2018_Article_32867.pdf

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: CACNA1C: R1973Q; rs112414325

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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: CACNA1C: 5918G>A; Arg1973Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: CACNA1C: R1973Q

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: CACNA1C: R1973Q; rs112414325

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: CACNA1C: R1973Q; rs112414325

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 37
• pgen.1004772.s004.xlsx, sheet 32

View BVdb publication page

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Selected rapporteur summaries from the XX World Congress of Psychiatric Genetics, Hamburg, Germany, October 14-18, 2012.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Anderson-Schmidt, Heike H; Beltcheva, Olga O; Brandon, Mariko D MD; Byrne, Enda M EM; Diehl, Eric J EJ; Duncan, Laramie L; Gonzalez, Suzanne D SD; Hannon, Eilis E; Kantojärvi, Katri K; Karagiannidis, Iordanis I; Kos, Mark Z MZ; Kotyuk, Eszter E; Laufer, Benjamin I BI; Mantha, Katarzyna K; McGregor, Nathaniel W NW; Meier, Sandra S; Nieratschker, Vanessa V; Spiers, Helen H; Squassina, Alessio A; Thakur, Geeta A GA; Tiwari, Yash Y; Viswanath, Biju B; Way, Michael J MJ; Wong, Cybele C P CC; O'Shea, Anne A; DeLisi, Lynn E LE

Publication Date: 2013-03

Variant appearance in text: CACNA1C: R1973Q

PubMed Link: 23341144

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Journal Of The American College Of Cardiology

Crotti, Lia L; Marcou, Cherisse A CA; Tester, David J DJ; Castelletti, Silvia S; Giudicessi, John R JR; Torchio, Margherita M; Medeiros-Domingo, Argelia A; Simone, Savastano S; Will, Melissa L ML; Dagradi, Federica F; Schwartz, Peter J PJ; Ackerman, Michael J MJ

Publication Date: 2012-10-09

Variant appearance in text: CACNA1C: R1973Q

PubMed Link: 22840528

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

Heart Rhythm

Burashnikov, Elena E; Pfeiffer, Ryan R; Barajas-Martinez, Héctor H; Delpón, Eva E; Hu, Dan D; Desai, Mayurika M; Borggrefe, Martin M; Häissaguerre, Michel M; Kanter, Ronald R; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Laiño, Ruben R; Marieb, Mark M; Nademanee, Koonlawee K; Nam, Gi-Byoung GB; Robles, Roberto R; Schimpf, Rainer R; Stapleton, Dwight D DD; Viskin, Sami S; Winters, Stephen S; Wolpert, Christian C; Zimmern, Samuel S; Veltmann, Christian C; Antzelevitch, Charles C

Publication Date: 2010-12

Variant appearance in text: CACNA1C: 5918G>A

PubMed Link: 20817017

Variant Present in the following documents:

• Main text

View BVdb publication page

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