| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 402 | 2016 |
| Rare variants in NR2F2 cause congenital heart defects in humans S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ... The American Journal of Human Genetics 94 (4), 574-585, 2014 | 181 | 2014 |
| Rare copy number variants contribute to congenital left-sided heart disease MP Hitz, LP Lemieux-Perreault, C Marshall, Y Feroz-Zada, R Davies, ... Public Library of Science 8 (9), e1002903, 2012 | 163 | 2012 |
| Accurate and fast feature selection workflow for high-dimensional omics data Y Perez-Riverol, M Kuhn, JA Vizcaíno, MP Hitz, E Audain PloS one 12 (12), e0189875, 2017 | 80 | 2017 |
| Loss of ADAMTS19 causes progressive non-syndromic heart valve disease F Wünnemann, A Ta-Shma, C Preuss, S Leclerc, PP van Vliet, A Oneglia, ... Nature genetics 52 (1), 40-47, 2020 | 50 | 2020 |
| Aberrant phase separation and nucleolar dysfunction in rare genetic diseases MA Mensah, H Niskanen, AP Magalhaes, S Basu, M Kircher, HL Sczakiel, ... Nature 614 (7948), 564-571, 2023 | 44 | 2023 |
| Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis R Opitz, MP Hitz, I Vandernoot, A Trubiroha, R Abu-Khudir, M Samuels, ... Endocrinology 156 (1), 377-388, 2015 | 44 | 2015 |
| INTERVAL Study; UK10K Consortium; Deciphering Developmental Disorders Study. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified … A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SH Turki, B Thienpont, J McRae, ... Nat Genet 48 (9), 1060-5, 2016 | 40 | 2016 |
| Fetal Cardiac Troponin Isoforms Rescue the Increased Ca2+ Sensitivity Produced by a Novel Double Deletion in Cardiac Troponin T Linked to Restrictive Cardiomyopathy JR Pinto, SW Yang, MP Hitz, MS Parvatiyar, MA Jones, J Liang, V Kokta, ... Biophysical Journal 100 (3), 114a-115a, 2011 | 27 | 2011 |
| Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier SW Yang, MP Hitz, G Andelfinger Cardiology in the Young 20 (5), 574-576, 2010 | 25 | 2010 |
| Cardiac specific expression of Xenopus Popeye-1 MP Hitz, P Pandur, T Brand, M Kühl Mechanisms of development 115 (1-2), 123-126, 2002 | 23 | 2002 |
| Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease E Audain, A Wilsdon, J Breckpot, JMG Izarzugaza, TW Fitzgerald, ... PLoS Genetics 17 (7), e1009679, 2021 | 22 | 2021 |
| Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy N Spielmann, G Miller, TI Oprea, CW Hsu, G Fobo, G Frishman, ... Nature Cardiovascular Research 1 (2), 157-173, 2022 | 21 | 2022 |
| Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease JMG Izarzugaza, SG Ellesøe, C Doganli, NS Ehlers, MD Dalgaard, ... Genome medicine 12, 1-13, 2020 | 17 | 2020 |
| Common genetic variants contribute to risk of transposition of the great arteries D Škorić-Milosavljević, R Tadros, FM Bosada, F Tessadori, JH Van Weerd, ... Circulation research 130 (2), 166-180, 2022 | 16 | 2022 |
| Enabling global clinical collaborations on identifiable patient data: the Minerva initiative C Nellåker, FS Alkuraya, G Baynam, RA Bernier, FPJ Bernier, ... Frontiers in Genetics 10, 611, 2019 | 15 | 2019 |
| DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs K Hoff, M Lemme, AK Kahlert, K Runde, E Audain, D Schuster, J Scheewe, ... Clinical Epigenetics 11, 1-19, 2019 | 14 | 2019 |
| Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms ES van Walree, G Dombrowsky, IE Jansen, MU Mirkov, R Zwart, A Ilgun, ... Genetics in Medicine 23 (1), 103-110, 2021 | 13 | 2021 |
| Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot D Škorić-Milosavljević, N Lahrouchi, FM Bosada, G Dombrowsky, ... Genetics in Medicine 23 (10), 1952-1960, 2021 | 12 | 2021 |
| Levosimendan for bridging in a pediatric patient with Alström syndrome awaiting heart-lung transplantation MP Hitz, H Bertram, H Köditz, H Görler, CM Happel, A Wessel, TM Yelbuz Clinical research in cardiology 97, 846-848, 2008 | 11 | 2008 |
