J. J. T. van Harssel

Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdaléna Harakaľová, J. J. T. van Harssel, Stef van Lieshout et al. · Nature Genetics · 2012 · 199 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

J. J. T. van Harssel, Sarah Weckhuysen, Marjan J. A. van Kempen et al. · Neurogenetics · 2013 · 77 citations

Pcdh19-related Epilepsy Syndromes, Mendelian Disorder, Autism Spectrum Disorders +8

Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins et al. · American Journal of Medical Genetics Part A · 2017 · 37 citations · Full text

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing <i>GLI2</i>

Sietske H. Kevelam, J. J. T. van Harssel, Bert van der Zwaag et al. · American Journal of Medical Genetics Part A · 2011 · 31 citations

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

Ron Hochstenbach, Godelieve C.M.L. Page‐Christiaens, A. C. C. van Oppen et al. · Case Reports in Genetics · 2015 · 16 citations · Full text

Fertility, Gynecology, Prenatal Screening +18