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Courtney E. French · SciRah

Researcher profile · Semantic Scholar

Courtney E. French

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Courtney E. French — researcher profile on SciRah

h-index: 19
Works: 34
Citations: 5,753

Most-cited papers

Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals
M. Guttman, I. Amit, M. Garber, Courtney E. French +16 more
2009Nature4,150 citations Open access
Semantic Scholar
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
E. Dolzhenko, Viraj Deshpande, F. Schlesinger, P. Krusche +18 more
2019bioRxiv360 citations Open access
Semantic Scholar
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Courtney E. French, I. Delon, H. Dolling, A. Sanchis-Juan +76 more
2019Intensive Care Medicine266 citations Open access
Semantic Scholar
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
A. Sanchis-Juan, J. Stephens, Courtney E. French, Nicholas S. Gleadall +18 more
2018Genome Medicine158 citations Open access
Semantic Scholar
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Xiao Chen, A. Sanchis-Juan, Courtney E. French, Andrew J. Connell +10 more
2020Genetics in Medicine123 citations Open access
Semantic Scholar
Gene duplication and the evolution of ribosomal protein gene regulation in yeast
I. Wapinski, Jenna Pfiffner, Courtney E. French, Amanda L. Socha +2 more
2010Proceedings of the National Academy of Sciences of the United States of America83 citations Open access
Semantic Scholar
Comparative Functional Genomics of the Fission Yeasts
N. Rhind, Zehua Chen, M. Yassour, Dawn-Anne Thompson +56 more
201169 citations
Semantic Scholar
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
C. Rodger, E. Flex, Rachel Allison, A. Sanchis-Juan +25 more
2020American Journal of Human Genetics59 citations Open access
Semantic Scholar
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
C. Alston, J. Heidler, Marris G. Dibley, L. Kremer +27 more
2018American Journal of Human Genetics57 citations Open access
Semantic Scholar
Two Alleles of NF-κB in the Sea Anemone Nematostella vectensis Are Widely Dispersed in Nature and Encode Proteins with Distinct Activities
J. Sullivan, F. Wolenski, A. Reitzel, Courtney E. French +3 more
2009PLoS ONE56 citations Open access
Semantic Scholar
Arboretum: Reconstruction and analysis of the evolutionary history of condition-specific transcriptional modules
Sushmita Roy, I. Wapinski, Jenna Pfiffner, Courtney E. French +6 more
2013Genome Research53 citations Open access
Semantic Scholar
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
H. Koh, Lacey Smith, K. Wiltrout, Archana Podury +20 more
2023JAMA Network Open41 citations Open access
Semantic Scholar
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Hong Joo Kim, P. Mohassel, S. Donkervoort, Lin Guo +54 more
2022Nature Communications36 citations Open access
Semantic Scholar
Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines
A. Chhibber, Courtney E. French, S. Yee, E. Gamazon +23 more
2016The Pharmacogenomics Journal35 citations Open access
Semantic Scholar
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
D. Annear, G. Vandeweyer, E. Elinck, A. Sanchis-Juan +3 more
2021Scientific Reports34 citations Open access
Semantic Scholar
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings
Wafaa Abbasi, Courtney E. French, S. Rockowitz, M. Kenna +1 more
2021Human Genetics28 citations
Semantic Scholar
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
A. Sanchis-Juan, Karyn Megy, J. Stephens, Camila Armirola Ricaurte +27 more
2023medRxiv21 citations Open access
Semantic Scholar
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Wen-Qiang Zheng, S. V. Pedersen, K. Thompson, E. Bellacchio +16 more
2021Human Molecular Genetics21 citations
Semantic Scholar
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
Courtney E. French, H. Dolling, K. Megy, A. Sanchis-Juan +14 more
2022HGG advances19 citations Open access
Semantic Scholar
Correction: Evolutionary principles of modular gene regulation in yeasts
D. Thompson, Sushmita Roy, Michelle M. Chan, M. Styczynski +10 more
2013eLife18 citations Open access
Semantic Scholar
Risk Factors Associated with a Second Primary Lung Cancer in Patients with an Initial Primary Lung Cancer
A. Fisher, Seongho Kim, D. Farhat, K. Belzer +8 more
2021Clinical Lung Cancer17 citations Open access
Semantic Scholar
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders
A. Lok, M. Fernández-García, R. W. Taylor, Courtney E. French +9 more
2022American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
Networks of Splice Factor Regulation by Unproductive Splicing Coupled With Nonsense Mediated mRNA Decay
A. Desai, Zhi-Qiang Hu, Courtney E. French, James P. B. Lloyd +1 more
2020bioRxiv9 citations Open access
Semantic Scholar
Transcriptome analysis of alternative splicing-coupled nonsense-mediated mRNA decay in human cells reveals broad regulatory potential
Courtney E. French, Gang Wei, James P. B. Lloyd, Zhi-Qiang Hu +2 more
2020bioRxiv8 citations Open access
Semantic Scholar
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
A. Sanchis-Juan, Christina Bitsara, K. Low, K. Carss +6 more
2019Frontiers in Genetics8 citations Open access
Semantic Scholar
Polysome fractionation analysis reveals features important for human nonsense-mediated mRNA decay
James P. B. Lloyd, Courtney E. French, S. Brenner
2020bioRxiv6 citations Open access
Semantic Scholar
Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders
A. Sanchis-Juan, J. Stephens, Courtney E. French, Nicholas S. Gleadall +17 more
2018bioRxiv6 citations Open access
Semantic Scholar
Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Hong-Joo Kim, P. Mohassel, S. Donkervoort, Lin Guo +54 more
2021medRxiv2 citations Open access
Semantic Scholar
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Xiao Chen, A. Sanchis-Juan, Courtney E. French, Andrew J. Connell +10 more
20200 citations
Semantic Scholar
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Xiao Chen, A. Sanchis-Juan, Courtney E. French, Andrew J. Connell +9 more
20190 citations Open access
Semantic Scholar
Transcriptome Analysis Reveals Extensive Alternative Splicing-Coupled Nonsense-Mediated mRNA Decay in a Human Cell Line
Courtney E. French, Gang Wei, S. Brenner
20150 citations
Semantic Scholar
of condition-specific transcriptional modules Arboretum : Reconstruction and analysis of the evolutionary history Material Supplemental
Sushmita Roy, I. Wapinski, Jenna Pfiffner, Courtney E. French +6 more
20130 citations
Semantic Scholar
Genetic analyses of 15 species of yeast have shed new light on the divergence of gene regulation during evolution, with significant changes occurring after an event in which a whole genome was duplicated.
M. Ragan, Sushmita Roy, Jenna Pfiffner, Courtney E. French +3 more
20130 citations
Semantic Scholar
Supporting Online Material for Comparative Functional Genomics of the Fission Yeasts
N. Rhind, Zehua Chen, M. Yassour, D. Thompson +56 more
20110 citations
Semantic Scholar

Frequent co-authors

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