Marc D’Hooghe

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Albena Jordanova, Joy Irobi, Florian P. Thomas et al. · Nature Genetics · 2006 · 376 citations · Full text

Medicine, Neurology, Neuroscience +16

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

Rong Li, Gajja S. Salomons, James E. Goldman et al. · Annals of Neurology · 2005 · 271 citations

Medicine, Neurology, Pathology +15

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy et al. · The American Journal of Human Genetics · 2007 · 159 citations

Life Sciences, Genetics, Molecular Genetics +7