Carola G.M. van Berkel

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Gert C. Scheper, Thom van der Klok, Rob J. van Andel et al. · Nature Genetics · 2007 · 450 citations

Amyotrophic Lateral Sclerosis, Mitochondrial Function, Neurological Disorder +13

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

Jerome R. Lo Ten Foe, Martin A. Rooimans, Lucine Bosnoyan-Collins et al. · Nature Genetics · 1996 · 416 citations

Natural Sciences, Genetics, Expression Cloning +7

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Peter A. J. Leegwater, Gerre Vermeulen, Andrea A.M. Könst et al. · Nature Genetics · 2001 · 412 citations

Translational Biology, Disease Mechanism, White Matter +6

The Fanconi anaemia group G gene FANCG is identical with XRCC9

Johan P. de Winter, Quinten Waisfisz, Martin A. Rooimans et al. · Nature Genetics · 1998 · 355 citations

Allelic Variant, Genetic Disorder, Genetics +8

Evidence for at Least Eight Fanconi Anemia Genes

Hans Joenje, Anneke B. Oostra, Mario Wijker et al. · The American Journal of Human Genetics · 1997 · 284 citations · Full text

Biology, Genetic Disorder, Medicine +5