Sandra Donkervoort

12PUBLICATIONS
179CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthCancer geneticsNeurology and neuromuscular diseasesMolecular medicine
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Publications (12)

|Oct 25, 2026
Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology.

|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

|Oct 28, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.

Volker Straub, Amanda R Clause, Sandra Donkervoort

|Jul 15, 2025
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

Rotem Orbach, Nunziata Maio, Russell J Butterfield

|Feb 09, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

Riley M McCarty, Dimah Saade, Pinki Munot

|Jan 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu

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Frequent Collaborators

10 joint publications

Carsten G Bönnemann

7 joint publications

A Reghan Foley

5 joint publications

Rotem Orbach

3 joint publications

Alan H Beggs