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Sandra Donkervoort | Researchclopedia

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Sandra Donkervoort

Government of the United States of America ORCID

310

Works

9,123

Citations

46

h-index

131

i10-index

Research Topics

Muscle Physiology and Disorders Cardiomyopathy and Myosin Studies Neurogenetic and Muscular Disorders Research

Affiliations

Northwestern University2008–2012

University of Iowa2015–2022

Loma Linda University Medical Center2013–2013

Centre National de la Recherche Scientifique2020–2020

National Institutes of Health1993–2025

Top Works

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Han‐Xiang Deng,Wenjie Chen,et al.

20111,162 citations

Genomics and Rare Diseases

RNA Research and Splicing

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings,Jamie L. Marshall,et al.

2017791 citations

The Role of <i>PIEZO2</i> in Human Mechanosensation

Alexander T. Chesler,Marcin Szczot,et al.

2016461 citations

Laparoscopic cholecystectomy versus percutaneous catheter drainage for acute cholecystitis in high risk patients (CHOCOLATE): multicentre randomised clinical trial

Charlotte S. Loozen,Hjalmar C. van Santvoort,et al.

2018296 citations

PIEZO2 mediates injury-induced tactile pain in mice and humans

Marcin Szczot,Jaquette Liljencrantz,et al.

2018293 citations

Frameshift and novel mutations in <i>FUS</i> in familial amyotrophic lateral sclerosis and ALS/dementia

J Yan,Han‐Xiang Deng,et al.

2010208 citations

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik,Gabrielle Lemire,et al.

2024163 citations

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates,Kristi Jones,et al.

2018155 citations

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel,Sandra Donkervoort,et al.

2021151 citations