Publications:

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The landscape of tolerated genetic variation in humans and primates.

Biorxiv : The Preprint Server For Biology

Gao, Hong H; Hamp, Tobias T; Ede, Jeffrey J; Schraiber, Joshua G JG; McRae, Jeremy J; Singer-Berk, Moriel M; Yang, Yanshen Y; Dietrich, Anastasia A; Fiziev, Petko P; Kuderna, Lukas L; Sundaram, Laksshman L; Wu, Yibing Y; Adhikari, Aashish A; Field, Yair Y; Chen, Chen C; Batzoglou, Serafim S; Aguet, Francois F; Lemire, Gabrielle G; Reimers, Rebecca R; Balick, Daniel D; Janiak, Mareike C MC; Kuhlwilm, Martin M; Orkin, Joseph D JD; Manu, Shivakumara S; Valenzuela, Alejandro A; Bergman, Juraj J; Rouselle, Marjolaine M; Silva, Felipe Ennes FE; Agueda, Lidia L; Blanc, Julie J; Gut, Marta M; de Vries, Dorien D; Goodhead, Ian I; Harris, R Alan RA; Raveendran, Muthuswamy M; Jensen, Axel A; Chuma, Idriss S IS; Horvath, Julie J; Hvilsom, Christina C; Juan, David D; Frandsen, Peter P; de Melo, Fabiano R FR; Bertuol, Fabricio F; Byrne, Hazel H; Sampaio, Iracilda I; Farias, Izeni I; Valsecchi do Amaral, João J; Messias, Mariluce M; da Silva, Maria N F MNF; Trivedi, Mihir M; Rossi, Rogerio R; Hrbek, Tomas T; Andriaholinirina, Nicole N; Rabarivola, Clément J CJ; Zaramody, Alphonse A; Jolly, Clifford J CJ; Phillips-Conroy, Jane J; Wilkerson, Gregory G; Abee, Christian C; Simmons, Joe H JH; Fernandez-Duque, Eduardo E; Kanthaswamy, Ee E; Shiferaw, Fekadu F; Wu, Dongdong D; Zhou, Long L; Shao, Yong Y; Zhang, Guojie G; Keyyu, Julius D JD; Knauf, Sascha S; Le, Minh D MD; Lizano, Esther E; Merker, Stefan S; Navarro, Arcadi A; Batallion, Thomas T; Nadler, Tilo T; Khor, Chiea Chuen CC; Lee, Jessica J; Tan, Patrick P; Lim, Weng Khong WK; Kitchener, Andrew C AC; Zinner, Dietmar D; Gut, Ivo I; Melin, Amanda A; Guschanski, Katerina K; Schierup, Mikkel Heide MH; Beck, Robin M D RMD; Umapathy, Govindhaswamy G; Roos, Christian C; Boubli, Jean P JP; Lek, Monkol M; Sunyaev, Shamil S; O'Donnell, Anne A; Rehm, Heidi H; Xu, Jinbo J; Rogers, Jeffrey J; Marques-Bonet, Tomas T; Farh, Kyle Kai-How KK

Publication Date: 2023-05-02

Variant appearance in text: MYBPC3: 1805C>T; Thr602Ile

PubMed Link: 37205491

Variant Present in the following documents:

• media-2.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MYBPC3: 1805C>T; Thr602Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine

Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW

Publication Date: 2022-10-20

Variant appearance in text: MYBPC3: Thr602Ile; rs730880551

PubMed Link: 36264615

Variant Present in the following documents:

• hcg-15-e003704-s001.pdf

View BVdb publication page

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Prenatal exome sequencing: A useful tool for the fetal neurologist.

Clinical Genetics

de Koning, Maayke A MA; Hoffer, Mariëtte J V MJV; Nibbeling, Esther A R EAR; Bijlsma, Emilia K EK; Toirkens, Menno J P MJP; Adama-Scheltema, Phebe N PN; Verweij, E Joanne EJ; Veenhof, Marieke B MB; Santen, Gijs W E GWE; Peeters-Scholte, Cacha M P C D CMPCD

Publication Date: 2022-01

Variant appearance in text: MYBPC3: 1805C>T; Thr602Ile

PubMed Link: 34611884

Variant Present in the following documents:

• Main text
• CGE-101-65.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: MYBPC3: 1805C>T; Thr602Ile; rs730880551

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1
• pgen.1008409.s003.xlsx, sheet 1

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: MYBPC3: 1805C>T; T602I

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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RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

Journal Of The American Heart Association

Al-Wakeel-Marquard, Nadya N; Degener, Franziska F; Herbst, Christopher C; Kühnisch, Jirko J; Dartsch, Josephine J; Schmitt, Boris B; Kuehne, Titus T; Messroghli, Daniel D; Berger, Felix F; Klaassen, Sabine S

Publication Date: 2019-08-06

Variant appearance in text: MYBPC3: Thr602Ile

PubMed Link: 31333075

Variant Present in the following documents:

• Main text
• JAH3-8-e012531.pdf

View BVdb publication page

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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: MYBPC3: 1805C>T; Thr602Ile

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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