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Human Mutation|November 5, 2015
A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ FunctionEmily S Noël, Tarek S Momenah, Khalid Al-Dagriri, et al.
European Journal of Human Genetics : EJHG|March 16, 2017
Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden deathNajim Lahrouchi, Elisabeth M Lodder, Maria Mansouri, et al.
Elife|March 23, 2018
Specialized impulse conduction pathway in the alligator heartBjarke Jensen, Bastiaan J Boukens, Dane A Crossley, et al.
Circulation Research|May 3, 2008
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillationAlex V Postma, Judith B A van de Meerakker, Inge B Mathijssen, et al.
American Journal of Medical Genetics. Part A|July 13, 2021
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variantLynne Rumping, Marja W Wessels, Alex V Postma, et al.
Cardiovascular Research|June 4, 2010
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndromeCornelis J J Boogerd, Dennis Dooijes, Aho Ilgun, et al.
Plos One|January 4, 2013
The ambiguous role of NKX2-5 mutations in thyroid dysgenesisKlaartje van Engelen, Mathilda T M Mommersteeg, Marieke J H Baars, et al.
European Journal of Pediatrics|December 18, 2008
Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literatureKlaartje van Engelen, Johannes H M Merks, Jan Lam, et al.
Biochimica Et Biophysica Acta|November 14, 2012
A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin bindingJudith B A van de Meerakker, Imke Christiaans, Phil Barnett, et al.
Circulation|September 19, 2007
Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic featuresZahurul A Bhuiyan, Maarten P van den Berg, J Peter van Tintelen, et al.
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