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American Journal of Medical Genetics. Part A|March 27, 2016
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variantIsabelle Thiffault, Emily Farrow, Laurie Smith, et al.Cold Spring Harbor Molecular Case Studies|May 3, 2020
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencingIsabelle Thiffault, Andrea Atherton, Bryce A Heese, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2018
Clinical genome sequencing in an unbiased pediatric cohortIsabelle Thiffault, Emily Farrow, Lee Zellmer, et al.Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer|September 9, 2011
Everolimus in combination with pemetrexed in patients with advanced non-small cell lung cancer previously treated with chemotherapy: a phase I study using a novel, adaptive Bayesian dose-escalation modelJohan Vansteenkiste, Benjamin Solomon, Michael Boyer, et al.BMC Medical Genetics|November 4, 2017
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related diseaseIsabelle Thiffault, Britton Zuccarelli, Holly Welsh, et al.BMC Medical Genetics|March 11, 2018
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case reportMaxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, et al.American Journal of Human Genetics|January 20, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCarol Saunders, Laurie Smith, Flemming Wibrand, et al.Biomarker Insights|November 7, 2022
MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 TranslocationJennifer Crow, Glenson Samuel, Emily Farrow, et al.Environmental Entomology|February 13, 2019
Documenting Potential Sunn Hemp (Crotalaria juncea L.) (Fabaceae) Pollinators in FloridaRobert L Meagher, Kristal M Watrous, Shelby J Fleischer, et al.Genome Research|November 14, 2025
OMKar automates genome karyotyping using optical maps to identify constitutional abnormalitiesSiavash Raeisi Dehkordi, Zhaoyang Jia, Joey Estabrook, et al.Pageof 5