Jasper J. van der Smagt
University Medical Center Utrecht(NL)
Publications by Year
Research Areas
Cardiovascular Effects of Exercise, Cardiomyopathy and Myosin Studies, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cardiac electrophysiology and arrhythmias
Most-Cited Works
- → Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR(2004)321 cited
- → GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects(2017)252 cited
- → The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy(2010)241 cited
- → Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants(2018)214 cited
- → Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy(2011)213 cited
- → Dominant missense mutations in ABCC9 cause Cantú syndrome(2012)199 cited
- → Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability(2016)183 cited
- → Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy(2012)153 cited
- → Monocarboxylate Transporter 1 Deficiency and Ketone Utilization(2014)119 cited
- → A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy(2009)119 cited