M. C. E. Jansweijer

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos et al. · European Journal of Human Genetics · 2012 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

Johanna M. van Hagen, Jos N. van der Geest, Ruben S. van der Giessen et al. · Neurobiology of Disease · 2006 · 86 citations · Full text

Life Sciences, Neurology, Neuroscience +14

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

Attitude towards pre-implantation genetic diagnosis for hereditary cancer

C. R. M. Lammens, Eveline M. A. Bleiker, Neil K. Aaronson et al. · Familial Cancer · 2009 · 59 citations · Full text

Life Sciences, Genetics, Oncology +16

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots et al. · American Journal of Medical Genetics Part A · 2012 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14