Jeroen Breckpot

21PUBLICATIONS
236CO-AUTHORS
Developmental genetics (incl. sex determination)Testing, assessment and psychometricsEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Early English languages
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Publications (21)

|Mar 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Jhih-Rong Lin, Daniella Miller, Dana Luong

|Mar 13, 2026
Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.

Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert

|Jan 08, 2026
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

Gregor Dombrowsky, Liselot van der Laan, Ananília Silva

|Dec 08, 2025
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.

Tanner J Nelson, Daniel E McGinn, T Blaine Crowley

|Aug 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Julia Volpi, Xiaonan Zhao, Nichole Owen

|Nov 28, 2024
Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.

Thomas De Coster, Karel David, Jeroen Breckpot

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