Sandra Donkervoort

11PUBLICATIONS
140CO-AUTHORS
Infant and child healthGene expression (incl. microarray and other genome-wide approaches)Cancer geneticsNeurology and neuromuscular diseasesMolecular medicine
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

|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

|Jun 25, 2024
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.

A Reghan Foley, Pomi Yun, Meganne E Leach

Pageof 2

Frequent Collaborators

9 joint publications

Carsten G Bönnemann

7 joint publications

A Reghan Foley

5 joint publications

Rotem Orbach

3 joint publications

Véronique Bolduc