Hubert Smeets

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Gavin Hudson, Valério Carelli, Liesbeth Spruijt et al. · The American Journal of Human Genetics · 2007 · 356 citations · Full text

Medicine, Genetics, Molecular Genetics +16

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok et al. · Human Mutation · 2010 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An out-of-frame cytochromeb gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production

Michele Rana, I.F.M. de Coo, Francisca Díaz et al. · Annals of Neurology · 2000 · 120 citations

Life Sciences, Genetics, Molecular Biology +17

The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg et al. · Human Mutation · 2009 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Epigenetic program and transcription factor circuitry of dendritic cell development

Qiong Lin, Heike Chauvistré, Ivan G. Costa et al. · Nucleic Acids Research · 2015 · 72 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17