van Bokhoven, Hans

Top Publications

Top Publications Authored or Co-Authored by "van Bokhoven, Hans"

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

  Nature Genetics, Volume 40, No. 1, Year 2008, Citations 340
• ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

  Human Molecular Genetics, Volume 11, No. 8, Year 2002, Citations 280
• SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

  Cell, Volume 142, No. 2, Year 2010, Citations 256
• Mutations in the pre-replication complex cause Meier-Gorlin syndrome

  Nature Genetics, Volume 43, No. 4, Year 2011, Citations 249