Sandra Donkervoort
0000-0001-6399-1444
Publication & Citation Trends
Publications
310 total
Emerging Upper Extremity Muscle Ultrasound Patterns as a Diagnostic Aid in TTN ‐Related Myopathies
Cited by 0
Semantic Scholar
134PCharacterization of a novel deep intronic COL6A1 c.930+176C>T splice activation variant causing COL6-related dystrophy
Cited by 0
Semantic Scholar
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Cited by 1
Semantic Scholar
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases OA
Cited by 0
Semantic Scholar
456PDefining the CIAO1-related disease spectrum: clinical and molecular insights into a novel defect in cytoplasmic iron-sulfur cluster assembly
Cited by 0
Semantic Scholar
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.
Cited by 3
Semantic Scholar
Research Topics
Muscle Physiology and Disorders
(103)
Cardiomyopathy and Myosin Studies
(58)
Neurogenetic and Muscular Disorders Research
(52)
Genomics and Rare Diseases
(29)
RNA Research and Splicing
(27)
Affiliations
Northwestern University
University of Iowa
Loma Linda University Medical Center
Centre National de la Recherche Scientifique
National Institutes of Health