Jennifer Kerkhof

28PUBLICATIONS
219CO-AUTHORS
Immunogenetics (incl. genetic immunology)Epidemiological modellingGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (28)

|Jul 31, 2026
A novel ZNF699 mutation in a patient with DEGCAGS syndrome and severe B cell depletion.

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|May 07, 2026
Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador

|Mar 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Nov 27, 2025
Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma.

L Mui, J Kerkhof, C M McLachlin

Pageof 5

Frequent Collaborators

15 joint publications

Bekim Sadikovic

8 joint publications

Matthew Tedder

5 joint publications

Roger E Stevenson

4 joint publications

Liselot van der Laan