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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.
The Journal of Clinical Investigation|September 19, 2018
Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodiesMary Scott Roberts, Peter D Burbelo, Daniela Egli-Spichtig, et al.
The Journal of Pediatrics|July 7, 2024
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular PhenotypesErica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, et al.
Clinical Genetics|May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case seriesMaxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Journal of Pediatric Gastroenterology and Nutrition|September 14, 2020
ITGB2 (Integrin β2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing EnterocolitisLovya George, Heather Menden, Sheng Xia, et al.
BMC Medical Genetics|May 8, 2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIsabelle Thiffault, Carol Saunders, Janda Jenkins, et al.
BMC Medical Genetics|November 23, 2016
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotypeFlorian Job, Shuji Mizumoto, Laurie Smith, et al.
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