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Publications by Hans van Bokhoven

Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

American Journal of Human Genetics

English

Duplicated Enhancer Region Increases Expression of CTSB and Segregates With Keratolytic Winter Erythema in South African and Norwegian Families

American Journal of Human Genetics

English

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

Molecular Biology

English

Cooperation Between the Transcription Factors P63 and IRF6 Is Essential to Prevent Cleft Palate in Mice

Journal of Clinical Investigation

English

Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

Genetics in Medicine

English

Genome-Wide Profiling of P63 DNA–Binding Sites Identifies an Element That Regulates Gene Expression During Limb Development in the 7q21 SHFM1 Locus

Molecular Biology

Cancer Research

English

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Molecular Biology

Cancer Research

English

Erratum: Mutations in Different Components of FGF Signaling in LADD Syndrome

Nature Genetics

English

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

American Journal of Human Genetics

English

Mutations in the ZNF41 Gene Are Associated With Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation

American Journal of Human Genetics

English