Sandra Donkervoort
Government of the United States of America(US)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, Genomics and Rare Diseases, RNA Research and Splicing
Most-Cited Works
- → Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia(2011)1,161 cited
- → Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
- → The Role of PIEZO2 in Human Mechanosensation(2016)461 cited
- → Laparoscopic cholecystectomy versus percutaneous catheter drainage for acute cholecystitis in high risk patients (CHOCOLATE): multicentre randomised clinical trial(2018)296 cited
- → PIEZO2 mediates injury-induced tactile pain in mice and humans(2018)292 cited
- → Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia(2010)208 cited
- → Genome Sequencing for Diagnosing Rare Diseases(2024)160 cited
- → Congenital Titinopathy: Comprehensive characterization and pathogenic insights(2018)155 cited
- → Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis(2021)150 cited