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American Journal of Medical Genetics. Part A|November 10, 2023
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approachLeanne de Kock, Alexanne Cuillerier, Meredith Gillespie, et al.Proceedings of the National Academy of Sciences of the United States of America|April 28, 2025
Increased flood exposure in the Pacific Northwest following earthquake-driven subsidence and sea-level riseTina Dura, William Chilton, David Small, et al.Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disordersZain Awamleh, Anthony Chen, Sanaa Choufani, et al.Plos Biology|January 6, 2026
TDP-43-mediated alternative polyadenylation is associated with a reduction in VPS35 and VPS29 expression in frontotemporal dementiaVidhya Maheswari Jawahar, Yi Zeng, Ellen M Armour, et al.Nature Communications|November 5, 2021
Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primatesHelena Costa-Verdera, Fanny Collaud, Christopher R Riling, et al.Clinical Genetics|February 8, 2017
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencingT B Balci, T Hartley, Y Xi, et al.Nature Chemical Biology|July 14, 2026
Early maturation of host antimicrobial peptide defences is associated with host-pathogen coexistencePhillip A Jervis, Gonçalo M Rosa, Kieran A Bates, et al.Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|September 18, 2016
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer TestingR Douglas Wilson, Isabelle De Bie, Christine M Armour, et al.Science (New York, N.Y.)|November 1, 2014
Wildlife disease. Recent introduction of a chytrid fungus endangers Western Palearctic salamandersA Martel, M Blooi, C Adriaensen, et al.Pageof 35