S

Sandra Donkervoort

Government of the United States of America

ORCID: 0000-0001-6399-1444

310 papers and 9.3k citations.

PubIndex Score95Top 5%How it's scored

310Publications

9.3kTotal Citations

First senior author: 1992

Top publicationsby citations

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Daniel G. MacArthur, Jamie L. Marshall et al.|Science Translational Medicine|2017

Cited by 809

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Susan T. Iannaccone, Kristi Jones et al.|Annals of Neurology|2018

Cited by 164

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Daniel G. MacArthur, Jamie L. Marshall et al.|bioRxiv (Cold Spring Harbor Laboratory)|2016

Cited by 150

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

Pejman Mohammadi, Tuuli Lappalainen, Stephane E. Castel et al.|Science|2019

Cited by 126

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina O’Grady, Sandra T. Cooper, Heather Best et al.|The American Journal of Human Genetics|2016

Cited by 106

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