Hans van Bokhoven

11PUBLICATIONS
183CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)
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Publications (11)

|Oct 21, 2024
Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries.

Luis M García-Marín, Adrian I Campos, Santiago Diaz-Torres

|Jun 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb

|Dec 23, 2022
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.

Hamid Meziane, Marie-Christine Birling, Olivia Wendling

|Oct 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie

|Nov 09, 2021
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.

Amama Ghaffar, Faiza Rasheed, Muhammad Rashid

|Aug 06, 2021
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.

Loredana Poeta, Agnese Padula, Maria Brigida Lioi

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Frequent Collaborators

1 joint publications

Christina Fagerberg

1 joint publications

Christian Gilissen

1 joint publications

Koen Devriendt

1 joint publications

Kerstin U Ludwig