I. Snoeck

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Xavier H. Jaglin, Karine Poirier, Yoann Saillour et al. · Nature Genetics · 2009 · 365 citations · Full text

Biology, Natural Sciences, Genetics +5

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 348 citations · Full text

Chromatin, Genome Instability, Swi/snf Chromatin +10

Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

V. des Portes, Fiona Francis, J.-M. Pinard et al. · Human Molecular Genetics · 1998 · 262 citations · Full text

Genetics, Doublecortin Gene, Epigenetics +20

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study

I. A. Ketelslegers, Coriene E. Catsman‐Berrevoets, Rinze F. Neuteboom et al. · Journal of Neurology · 2012 · 111 citations · Full text

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

Maaike C. de Vries, Richard J. Rodenburg, Éva Morava et al. · European Journal of Pediatrics · 2006 · 78 citations

Neurodegenerative Diseases, Mendelian Disorder, Biochemistry +8