Sean Jurgens

Research output

Research output per year 2019 2022 2023 2024

• 22 Article
• 1 Comment/Letter to the editor
• 1 Editorial
• 1 Review article

Research output per year

Research output per year

Search results

• Article

  A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population

  Mauleekoonphairoj, J., Tongsima, S., Khongphatthanayothin, A., Jurgens, S. J., Zimmerman, D. S., Sutjaporn, B., Wandee, P., Bezzina, C. R., Nademanee, K. & Poovorawan, Y., 1 Dec 2023, In: Scientific reports. 13, 1, 12360.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Adjusting for common variant polygenic scores improves yield in rare variant association analyses

  Jurgens, S. J., Pirruccello, J. P., Choi, S. H., Morrill, V. N., Chaffin, M., Lubitz, S. A., Lunetta, K. L. & Ellinor, P. T., Apr 2023, In: Nature Genetics. 55, 4, p. 544-548 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  7 Citations (Scopus)

• Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

  Regeneron Genetics Center, 1 Mar 2022, In: Nature Genetics. 54, 3, p. 240-250 11 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  52 Citations (Scopus)

• Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease

  Dron, J. S., Patel, A. P., Zhang, Y., Jurgens, S. J., Maamari, D. J., Wang, M., Boerwinkle, E., Morrison, A. C., de Vries, P. S., Fornage, M., Hou, L., Lloyd-Jones, D. M., Psaty, B. M., Tracy, R. P., Bis, J. C., Vasan, R. S., Levy, D., Heard-Costa, N., Rich, S. S., Guo, X., & 9 othersTaylor, K. D., Gibbs, R. A., Rotter, J. I., Willer, C. J., Oelsner, E. C., Moran, A. E., Peloso, G. M., Natarajan, P. & Khera, A. V., 8 Mar 2023, In: JAMA Cardiology. 8, 3, p. 258-267 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

  NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, 1 Dec 2022, In: Nature communications. 13, 1, 5106.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  2 Citations (Scopus)

• Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies

  Lipov, A., Jurgens, S. J., Mazzarotto, F., Allouba, M., Pirruccello, J. P., Aguib, Y., Gennarelli, M., Yacoub, M. H., Ellinor, P. T., Bezzina, C. R. & Walsh, R., Nov 2023, In: Nature cardiovascular research. 2, 11, p. 1078-1094 17 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• Genetic analysis of right heart structure and function in 40,000 people

  The Biobank Japan Project, 1 Jun 2022, In: Nature Genetics. 54, 6, p. 792-803 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  26 Citations (Scopus)

• Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias

  Pham, C., Andrzejczyk, K., Jurgens, S. J., Lekanne Deprez, R., Palm, K. C. A., Vermeer, A. M. C., Nijman, J., Christiaans, I., Barge-Schaapveld, D. Q. C. M., van Dessel, P. F. H. M., Beekman, L., Choi, S. H., Lubitz, S. A., Skoric-Milosavljevic, D., van den Bersselaar, L., Jansen, P. R., Copier, J. S., Ellinor, P. T., Wilde, A. A. M., Bezzina, C. R., & 1 othersLodder, E. M., 1 Aug 2023, In: Circulation. Genomic and precision medicine. 16, 4, p. 328-336 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  2 Citations (Scopus)

• Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation

  Weng, L-C., Hall, A. W., Choi, S. H., Jurgens, S. J., Haessler, J., Bihlmeyer, N. A., Grarup, N., Lin, H., Teumer, A., Li-Gao, R., Yao, J., Guo, X., Brody, J. A., Müller-Nurasyid, M., Schramm, K., Verweij, N., van den Berg, M. E., van Setten, J., Isaacs, A., Ramírez, J., & 40 othersWarren, H. R., Padmanabhan, S., Kors, J. A., de Boer, R. A., van der Meer, P., Sinner, M. F., Waldenberger, M., Psaty, B. M., Taylor, K. D., Völker, U., Kanters, J. K., Li, M., Alonso, A., Perez, M. V., Vaartjes, I., Bots, M. L., Huang, P. L., Heckbert, S. R., Lin, H. J., Kornej, J., Munroe, P. B., van Duijn, C. M., Asselbergs, F. W., Stricker, B. H., van der Harst, P., Kääb, S., Peters, A., Sotoodehnia, N., Rotter, J. I., Mook-Kanamori, D. O., Dörr, M., Felix, S. B., Linneberg, A., Hansen, T., Arking, D. E., Kooperberg, C., Benjamin, E. J., Lunetta, K. L., Ellinor, P. T. & Lubitz, S. A., Oct 2020, In: Circulation. Genomic and precision medicine. 13, 5, p. 387-395 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

• Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

  KORA-Study Group & Nantes Referral Center for inherited cardiac arrhythmia, 1 Mar 2022, In: Nature Genetics. 54, 3, p. 232-239 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  49 Citations (Scopus)

• Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy

  Curran, L., de Marvao, A., Inglese, P., McGurk, K. A., Schiratti, P-R., Clement, A., Zheng, S. L., Li, S., Pua, C. J., Shah, M., Jafari, M., Theotokis, P., Buchan, R. J., Jurgens, S. J., Raphael, C. E., Baksi, A. J., Pantazis, A., Halliday, B. P., Pennell, D. J., Bai, W., & 8 othersChin, C. W. L., Tadros, R., Bezzina, C. R., Watkins, H., Cook, S. A., Prasad, S. K., Ware, J. S. & O'Regan, D. P., 1 Dec 2023, In: Circulation: Genomic and Precision Medicine. 16, 6, p. E004200

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots

  Agrawal, S., Wang, M., Klarqvist, M. D. R., Smith, K., Shin, J., Dashti, H., Diamant, N., Choi, S. H., Jurgens, S. J., Ellinor, P. T., Philippakis, A., Claussnitzer, M., Ng, K., Udler, M. S., Batra, P. & Khera, A. V., 1 Dec 2022, In: Nature communications. 13, 1, 3771.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  34 Citations (Scopus)

• Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies

  van der Voorn, S. M., van Drie, E., Proost, V., Dimitrova, K., Ernst, R. F., James, C. A., Tichnell, C., Murray, B., Calkins, H., Saguner, A. M., Duru, F., Ellinor, P. T., Bezzina, C. R., Jurgens, S. J., van Tintelen, J. P. & van Veen, T. A. B., 1 Nov 2023, In: International journal of molecular sciences. 24, 21, 15931.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• LMNA Variants and Risk of Adult-Onset Cardiac Disease

  Lazarte, J., Jurgens, S. J., Choi, S. H., Khurshid, S., Morrill, V. N., Weng, L-C., Nauffal, V., Pirruccello, J. P., Halford, J. L., Hegele, R. A., Ellinor, P. T., Lunetta, K. L. & Lubitz, S. A., 5 Jul 2022, In: Journal of the American College of Cardiology. 80, 1, p. 50-59 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  15 Citations (Scopus)

• Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results from a National Biobank

  Choi, S. H., Jurgens, S. J., Weng, L-C., Pirruccello, J. P., Roselli, C., Chaffin, M., Lee, C. J-Y., Hall, A. W., Khera, A. V., Lunetta, K. L., Lubitz, S. A. & Ellinor, P. T., 17 Jan 2020, In: Circulation Research. 126, 2, p. 200-209

  Research output: Contribution to journal › Article › Academic › peer-review

• Monogenic and Polygenic Contributions to QTc Prolongation in the Population

  National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium & TOPMed Investigators, 17 May 2022, In: Circulation. 145, 20, p. 1524-1533 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  9 Citations (Scopus)

• Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank

  Biddinger, K. J., Jurgens, S. J., Dimitri, M., Gaziano, L., Choi, S. H., Morrill, V., Halford, J. L., Khera, A. V., Lubitz, S. A., Ellinor, P. T. & Aragam, K. G., 18 May 2022, In: JAMA Cardiology. 7, 7, p. 715-722

  Research output: Contribution to journal › Article › Academic › peer-review

• Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

  Schoenmakers, E., Marelli, F., Jørgensen, H. F., Visser, W. E., Moran, C., Groeneweg, S., Avalos, C., Jurgens, S. J., Figg, N., Finigan, A., Wali, N., Agostini, M., Wardle-Jones, H., Lyons, G., Rusk, R., Gopalan, D., Twiss, P., Visser, J. J., Goddard, M., Nashef, S. A. M., & 11 othersHeijmen, R., Clift, P., Sinha, S., Pirruccello, J. P., Ellinor, P. T., Busch-Nentwich, E. M., Ramirez-Solis, R., Murphy, M. P., Persani, L., Bennett, M. & Chatterjee, K., 1 Dec 2023, In: Nature communications. 14, 1, 7994.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)

• TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

  Baudic, M., Murata, H., Bosada, F. M., Melo, U. S., Aizawa, T., Lindenbaum, P., van der Maarel, L. E., Guedon, A., Baron, E., Fremy, E., Foucal, A., Ishikawa, T., Ushinohama, H., Jurgens, S. J., Choi, S. H., Kyndt, F., le Scouarnec, S., Wakker, V., Thollet, A., Rajalu, A., & 24 othersTakaki, T., Ohno, S., Shimizu, W., Horie, M., Kimura, T., Ellinor, P. T., Petit, F., Dulac, Y., Bru, P., Boland, A., Deleuze, J-F., Redon, R., le Marec, H., le Tourneau, T., Gourraud, J-B., Yoshida, Y., Makita, N., Vieyres, C., Makiyama, T., Mundlos, S., Christoffels, V. M., Probst, V., Schott, J-J. & Barc, J., 1 Dec 2024, In: Nature communications. 15, 1, 3380.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• The Genetic Determinants of Aortic Distention

  Pirruccello, J. P., Rämö, J. T., Choi, S. H., Chaffin, M. D., Kany, S., Nekoui, M., Chou, E. L., Jurgens, S. J., Friedman, S. F., Juric, D., Stone, J. R., Batra, P., Ng, K., Philippakis, A. A., Lindsay, M. E. & Ellinor, P. T., 11 Apr 2023, In: Journal of the American College of Cardiology. 81, 14, p. 1320-1335 16 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  7 Citations (Scopus)

• Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank

  Ryu, J., Rämö, J. T., Jurgens, S. J., Niiranen, T., Sanna-Cherchi, S., Bauer, K. A., Haj, A., Choi, S. H., Palotie, A., Daly, M., Ellinor, P. T. & FinnGen, 2024, (E-pub ahead of print) In: Blood.

  Research output: Contribution to journal › Article › Academic › peer-review

• Transposition of the great arteries: Fetal pulmonary valve growth and postoperative neo-aortic root dilatation

  van der Palen, R. L. F., van der Zee, C., Vink, A. S., Knobbe, I., Jurgens, S. J., van Leeuwen, E., Bax, C. J., du Marchie Sarvaas, G. J., Blom, N. A., Haak, M. C., Bilardo, C. M. & Clur, S-A. B., 1 Nov 2019, In: Prenatal diagnosis. 39, 12, p. 1054-1063 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  3 Citations (Scopus)
• Comment/Letter to the editor

  Erratum: Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes (Nature communications (2022) 13 1 (5106))

  NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, 30 Sept 2022, In: Nature communications. 13, 1, p. 5767 1 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic

  Open Access
• Editorial

  Towards Proactive “Sequence-First” Risk Prediction for Inherited Cardiomyopathies

  Jurgens, S. J. & Funke, B., 2023, (E-pub ahead of print) In: JACC: Heart Failure.

  Research output: Contribution to journal › Editorial › Academic › peer-review
• Review article

  Genome-wide association studies of cardiovascular disease

  Walsh, R., Jurgens, S. J., Erdmann, J. & Bezzina, C. R., 1 Jul 2023, In: Physiological Reviews. 103, 3, p. 2039-2055 17 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  15 Citations (Scopus)