Patrick Rump

10PUBLICATIONS
85CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Aerospace structuresMolecular imaging (incl. electron microscopy and neutron diffraction)
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Publications (10)

|Apr 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Daniel Greene, Koenraad De Wispelaere, Jon Lees

|Dec 31, 2024
RICTOR variants are associated with neurodevelopmental disorders.

Raphael Carapito, Anne Molitor, Lisa Pavinato

|Feb 19, 2021
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.

Alexander J M Dingemans, Diante E Stremmelaar, Roos van der Donk

|Nov 17, 2020
Germline AGO2 mutations impair RNA interference and human neurological development.

Davor Lessel, Daniela M Zeitler, Margot R F Reijnders

|Apr 30, 2019
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Dov Tiosano, Hagit N Baris, Anlu Chen

|Mar 10, 2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

Andrea Wenzel, Janine Altmueller, Arif B Ekici

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Frequent Collaborators

2 joint publications

Margot R F Reijnders

2 joint publications

Sarah Vergult

2 joint publications

Andre Reis

2 joint publications

Shane McKee