Marie- José H van den Boogaard

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 148 citations · Full text

Medicine, Genetics, Molecular Genetics +14

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht et al. · Human Genetics · 2014 · 128 citations

Life Sciences, Genetics, Molecular Genetics +14

Prenatal ultrasound screening for orofacial clefts

Wiesje Maarse, L. R. Pistorius, W. K. Van Eeten et al. · Ultrasound in Obstetrics and Gynecology · 2010 · 79 citations

Medicine, Maternal Health, Obstetrics +12

The Peters??-Plus syndrome

Raoul C. M. Hennekam, Mary J. van Schooneveld, Holly H Ardinger et al. · Clinical Dysmorphology · 1993 · 34 citations

Medicine, Obstetrics, Pediatrics +17

Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: A national validation study

Anna M. Rozendaal, Antonius J.M. Luijsterburg, Edwin M. Ongkosuwito et al. · Journal of Plastic Reconstructive & Aesthetic Surgery · 2012 · 31 citations

Dentistry, Orthodontics, Oral Diagnosis +12