Bekim Sadikovic

47PUBLICATIONS
305CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Immunogenetics (incl. genetic immunology)Epidemiological modellingEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (47)

|Aug 10, 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

|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

Pageof 8

Frequent Collaborators

15 joint publications

Jennifer Kerkhof

7 joint publications

Liselot van der Laan

6 joint publications

Alfredo Brusco

5 joint publications

Matthew Tedder