Eric A. M. Hennekam

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Marka van Blitterswijk, Michael A. van Es, Eric A. M. Hennekam et al. · Human Molecular Genetics · 2012 · 351 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Mariëlle Alders, Benjamin M. Hogan, Evisa Gjini et al. · Nature Genetics · 2009 · 321 citations

Medicine, Genetics, Molecular Genetics +12

Mutations in <i>WNT10A</i> are present in more than half of isolated hypodontia cases

Marie-José van den Boogaard, Marijn Créton, Yvon Bronkhorst et al. · Journal of Medical Genetics · 2012 · 216 citations

Life Sciences, Genetics, Molecular Genetics +12

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Joris M. van Montfrans, Esther A R Hartman, Kees P. J. Braun et al. · Lara D. Veeken · 2016 · 145 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Saskia N. van der Crabben, Marije P. Hennus, Grant A. McGregor et al. · Journal of Clinical Investigation · 2016 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17