Jeroen Schoots

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch et al. · Nature Genetics · 2011 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Ernie M.H.F. Bongers, Pascal H. G. Duijf, Sylvia E. C. van Beersum et al. · The American Journal of Human Genetics · 2004 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Mutations in <i>DYNC1H1</i> cause severe intellectual disability with neuronal migration defects

Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen et al. · Journal of Medical Genetics · 2012 · 182 citations

Life Sciences, Genetics, Neuroscience +17

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Ernie M.H.F. Bongers, F.T.M. Huysmans, Elena Levtchenko et al. · European Journal of Human Genetics · 2005 · 161 citations

Life Sciences, Genetics, Molecular Genetics +13

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