Johanna B. G. M. Verheij

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos et al. · BMC Medical Genomics · 2015 · 99 citations · Full text

Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

Barbara D′haene, Françoise Meire, Ilse Claerhout et al. · Investigative Ophthalmology & Visual Science · 2010 · 87 citations · Full text

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature

Johanna B. G. M. Verheij, Deborah Sival, Johannes H. van der Hoeven et al. · European Journal of Paediatric Neurology · 2006 · 58 citations

Mendelian Disorder, Disease Mechanism, Genetic Disorder +11

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Mariëlle Alders, Antonella Mendola, Lesley C. Adès et al. · Molecular Syndromology · 2012 · 50 citations · Full text

Genetics, Immunology, Diagnosis +18

&lt;i&gt;IRF6&lt;/i&gt; Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

Laurence Desmyter, Nicole Revençu, Odile Boute et al. · Molecular Syndromology · 2010 · 29 citations · Full text

Developmental Anomaly, Developmental Biology, New Type +13