Publications:

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: rs141805127

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: rs141805127

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Journal Of Translational Medicine

Lu, Chaoxia C; Wu, Wei W; Liu, Fang F; Yang, Kunqi K; Li, Jiacheng J; Liu, Yaping Y; Wang, Rongrong R; Si, Nuo N; Gao, Peng P; Liu, Yongtai Y; Zhang, Shuyang S; Zhang, Xue X

Publication Date: 2018-08-30

Variant appearance in text: TNNT2: D259N; rs141805127

PubMed Link: 30165862

Variant Present in the following documents:

• 12967_2018_1605_MOESM3_ESM.xlsx, sheet 1

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iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.

Stem Cell Reports

Panopoulos, Athanasia D AD; D'Antonio, Matteo M; Benaglio, Paola P; Williams, Roy R; Hashem, Sherin I SI; Schuldt, Bernhard M BM; DeBoever, Christopher C; Arias, Angelo D AD; Garcia, Melvin M; Nelson, Bradley C BC; Harismendy, Olivier O; Jakubosky, David A DA; Donovan, Margaret K R MKR; Greenwald, William W WW; Farnam, KathyJean K; Cook, Megan M; Borja, Victor V; Miller, Carl A CA; Grinstein, Jonathan D JD; Drees, Frauke F; Okubo, Jonathan J; Diffenderfer, Kenneth E KE; Hishida, Yuriko Y; Modesto, Veronica V; Dargitz, Carl T CT; Feiring, Rachel R; Zhao, Chang C; Aguirre, Aitor A; McGarry, Thomas J TJ; Matsui, Hiroko H; Li, He H; Reyna, Joaquin J; Rao, Fangwen F; O'Connor, Daniel T DT; Yeo, Gene W GW; Evans, Sylvia M SM; Chi, Neil C NC; Jepsen, Kristen K; Nariai, Naoki N; Müller, Franz-Josef FJ; Goldstein, Lawrence S B LSB; Izpisua Belmonte, Juan Carlos JC; Adler, Eric E; Loring, Jeanne F JF; Berggren, W Travis WT; D'Antonio-Chronowska, Agnieszka A; Smith, Erin N EN; Frazer, Kelly A KA

Publication Date: 2017-04-11

Variant appearance in text: rs141805127

PubMed Link: 28410642

Variant Present in the following documents:

• mmc2.xlsx, sheet 2

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