Articles with public access mandates - Marc-Phillip HitzLearn more
Not available anywhere: 1
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
Mandates: Canadian Institutes of Health Research
Available somewhere: 29
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
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
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
Mandates: US National Institutes of Health, Heart and Stroke Foundation of Canada …
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
Mandates: Canadian Institutes of Health Research, Heart and Stroke Foundation of Canada
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
Mandates: German Research Foundation, UK Biotechnology and Biological Sciences …
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
Mandates: German Research Foundation, Worldwide Cancer Research, UK, European …
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
Mandates: US National Institutes of Health, Fonds de recherche du Québec - Santé …
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
Mandates: National Fund for Scientific Research, Belgium, Canadian Institutes of …
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
Mandates: US National Institutes of Health, Genome Canada, National Natural Science …
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
Mandates: US National Institutes of Health, German Research Foundation, British Heart …
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
Mandates: US National Institutes of Health, Canadian Institutes of Health Research
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
Mandates: US National Institutes of Health, Research Foundation (Flanders), Canadian …
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
Mandates: Research Foundation (Flanders), Danish National Advanced Technology …
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, Research …
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
Mandates: German Research Foundation, Federal Ministry of Education and Research, Germany
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
Mandates: US National Institutes of Health, Research Foundation (Flanders), Heart and …
The emergency medical service has a crucial role to unravel the genetics of sudden cardiac arrest in young, out of hospital resuscitated patients: Interim data from the MAP-IT …
J Tiesmeier, A Gaertner, S Homm, T Jakob, C Stanasiuk, ...
Resuscitation 168, 176-185, 2021
Mandates: German Research Foundation
Familial ventricular aneurysms and septal defects map to chromosome 10p15
N Tremblay, SW Yang, MP Hitz, G Asselin, J Ginns, K Riopel, R Gendron, ...
European heart journal 32 (5), 568-573, 2011
Mandates: Canadian Institutes of Health Research, Heart and Stroke Foundation of Canada
Recent advances in congenital heart disease genomics
A Wilsdon, A Sifrim, MP Hitz, M Hurles, JD Brook
F1000Research 6, 2017
Mandates: British Heart Foundation, Wellcome Trust
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