Servi J Stevens

16PUBLICATIONS
121CO-AUTHORS
Neurology and neuromuscular diseasesGene mappingGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)
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Publications (16)

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Sep 24, 2025
Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B.

Servi J C Stevens, Wanwisa van Dijk, Nicole Y Souren

|Sep 02, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Anouk E J Janssen, Rebekka M Koeck, Rick Essers

|Aug 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.

Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert

|Mar 30, 2023
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Richelle A C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse

|Jan 17, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Brigitte H W Faas, Dineke Westra, Sonja A de Munnik

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Frequent Collaborators

4 joint publications

Masoud Zamani Esteki

3 joint publications

Malou Heijligers

3 joint publications

Merryn V E Macville

3 joint publications

Lisenka E L M Vissers