Rolph Pfundt

11PUBLICATIONS
138CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Cellular nervous systemMolecular imaging (incl. electron microscopy and neutron diffraction)Anthropology of development
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Publications (11)

|Mar 23, 2026
Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a <i>KCNK9</i> Variant.

Willem Verhoeven, Ingrid Spee, Charlotte Wilhelmina Ockeloen

|Jan 23, 2025
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the <i>TMLHE</i> Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability.

Willem M A Verhoeven, Rolph Pfundt, Udo F H Engelke

|Sep 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cells.

Hyoungjun Ham, Huie Jing, Ian T Lamborn

|Jan 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini

|Dec 30, 2022
Myoclonic-Atonic Epilepsy Caused by a Novel de Novo Heterozygous Missense Variant in the <i>SLC6A1</i> Gene: Brief Discussion of the Literature and Detailed Case Description of a Severely Intellectually Disabled Adult Male Patient.

Willem Verhoeven, José Zuijdam, Anneke Scheick

|Feb 22, 2022
Clinical exome sequencing-Mistakes and caveats.

Jordi Corominas, Sanne P Smeekens, Marcel R Nelen

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Frequent Collaborators

4 joint publications

Jos I M Egger

4 joint publications

Willem Verhoeven

2 joint publications

Christian Gilissen

1 joint publications

Charlotte Wilhelmina Ockeloen