R Hennekam

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse et al. · Human Mutation · 2007 · 214 citations

Medicine, Molecular Genetics, Molecular Medicine +12

Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome

Jill Clayton‐Smith, Bronwyn Kerr, Hans Brünner et al. · Clinical Dysmorphology · 1997 · 128 citations

Medicine, Anatomy, Pediatrics +16

Novel and recurrent <i>TRPV4</i> mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

Jin Dai, Maren Schmidt‐Rimpler, H. Tonoki et al. · Journal of Medical Genetics · 2010 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

Elizabeth A. Putnam, Eun Sook Park, Cora M. Aalfs et al. · PubMed · 1997 · 71 citations

Life Sciences, Genetics, Molecular Genetics +13

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

Jan-Maarten Cobben, Marjan M. Weiss, Fleur S. van Dijk et al. · European Journal of Medical Genetics · 2014 · 63 citations

Life Sciences, Genetics, Molecular Genetics +14