Niels Vos

5PUBLICATIONS
36CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Gene mappingElectrical circuits and systems
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Publications (5)

|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

|Apr 11, 2024
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.

Niels Vos, Lotte Kleinendorst, Liselot van der Laan

|Apr 10, 2024
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

Lotte Kleinendorst, Ozair Abawi, Niels Vos

|Apr 03, 2023
Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Saskia M Maas, Izabela M Krzyzewska, Maria P R Lombardi

|Feb 22, 2023
Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.

Niels Vos, Leonie A Menke, Christiaan F Mooij

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