Maartje Pennings
4PUBLICATIONS
15CO-AUTHORS
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Publications (4)
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|Jul 07, 2025
Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles.Hilde Swinkels, Maike Leferink, Maartje Pennings
|Sep 27, 2024
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.Gaby Schobers, Maartje Pennings, Juliette de Vries
|May 03, 2023
Genetic characterization of primary lateral sclerosis.Eva M J de Boer, Balint S de Vries, Maartje Pennings
|Feb 13, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.Maartje Pennings, Rowdy P P Meijer, Monique Gerrits
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Frequent Collaborators
4 joint publications
Erik-Jan Kamsteeg
3 joint publications
Christian Gilissen
1 joint publications
Monique Gerrits
1 joint publications
Nicole de Leeuw
1 joint publications
Eva M J de Boer
1 joint publications
Jan H Veldink
1 joint publications
Leonard H van den Berg
1 joint publications
Michael A van Es
1 joint publications
Gaby Schobers
1 joint publications
Jeroen van Reeuwijk
