Publications by authors named "Courtney French"

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Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder.
Anne B Arnett, Ryan Koesterer, Paulina Gonzalez Tovar, Mia O'Connell, Soleha Patel, Courtney E French

Genet Med· December 2025

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Sandra Coppens, Nicolas Deconinck, Patricia Sullivan, Andrei Smolnikov, Joshua S Clayton, Courtney E French

Ann Neurol· April 2025

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Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Sarah U Morton, Gregory Costain, Courtney E French, Emma Wakeling, Anna Szuto

Neurology· January 2025

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Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Courtney E French, Nancy C Andrews, Alan H Beggs, Philip M Boone, Catherine A Brownstein

NPJ Genom Med· December 2024

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Alba Sanchis-Juan, Karyn Megy, Jonathan Stephens, Camila Armirola Ricaurte, Eleanor Dewhurst, Courtney E French

Am J Hum Genet· August 2023

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Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Hyun Yong Koh, Lacey Smith, Kimberly N Wiltrout, Archana Podury, Nitish Chourasia, Courtney E French

JAMA Netw Open· July 2023

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Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Aishin Lok, Miguel A Fernandez-Garcia, Robert W Taylor, Courtney French, Robert MacFarland

Am J Med Genet A· September 2022

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
Courtney E French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar

HGG Adv· July 2022

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Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Wafaa Abbasi, Courtney E French, Shira Rockowitz, Margaret A Kenna, A Eliot Shearer

Hum Genet· April 2022

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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Sarah U Morton, John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Courtney E French

JAMA Neurol· April 2022

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Courtney E French

Nat Commun· April 2022

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Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Wen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, Emanuele Bellacchio, Courtney E French

Hum Mol Genet· February 2022

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Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss.
Olga Shubina-Oleinik, Carl Nist-Lund, Courtney French, Shira Rockowitz, A Eliot Shearer

Sci Adv· December 2021

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Risk Factors Associated with a Second Primary Lung Cancer in Patients with an Initial Primary Lung Cancer.
Amanda Fisher, Seongho Kim, Dina Farhat, Kimberly Belzer, MaryAnn Milczuk, Courtney French

Clin Lung Cancer· November 2021

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Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
Dale J Annear, Geert Vandeweyer, Ellen Elinck, Alba Sanchis-Juan, Courtney E French

Sci Rep· January 2021

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De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Catherine Rodger, Elisabetta Flex, Rachel J Allison, Alba Sanchis-Juan, Marcia A Hasenahuer, Courtney E French

Am J Hum Genet· December 2020

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Xiao Chen, Alba Sanchis-Juan, Courtney E French, Andrew J Connell, Isabelle Delon

Genet Med· May 2020

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ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Courtney French

Bioinformatics· November 2019

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Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J Carss, Courtney E French

Front Genet· June 2019

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Courtney E French, Isabelle Delon, Helen Dolling, Alba Sanchis-Juan, Olga Shamardina

Intensive Care Med· May 2019

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Alba Sanchis-Juan, Jonathan Stephens, Courtney E French, Nicholas Gleadall, Karyn Mégy

Genome Med· December 2018

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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Charlotte L Alston, Juliana Heidler, Marris G Dibley, Laura S Kremer, Lucie S Taylor, Courtney E French

Am J Hum Genet· October 2018

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Correction: Evolutionary principles of modular gene regulation in yeasts.
Dawn A Thompson, Sushmita Roy, Michelle Chan, Mark P Styczynski, Jenna Pfiffner, Courtney French

Elife· July 2013

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Arboretum: reconstruction and analysis of the evolutionary history of condition-specific transcriptional modules.
Sushmita Roy, Ilan Wapinski, Jenna Pfiffner, Courtney French, Amanda Socha

Genome Res· June 2013

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Evolutionary principles of modular gene regulation in yeasts.
Dawn A Thompson, Sushmita Roy, Michelle Chan, Mark P Styczynsky, Jenna Pfiffner, Courtney French

Elife· June 2013

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