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Journal of Medical Genetics|October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotypeAnge-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
The Journal of Clinical Investigation|December 8, 2015
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingRoland F R Schindler, Chiara Scotton, Jianguo Zhang, et al.
Biomolecules|October 29, 2025
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide ReportFernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
Frontiers in Genetics|July 29, 2020
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular DystrophyChiara Passarelli, Rita Selvatici, Alberto Carrieri, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
Neurology|June 30, 2012
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophyLuca Bello, Luisa Piva, Andrea Barp, et al.
Journal of Cell Science|March 6, 2016
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathyChiara Scotton, Matteo Bovolenta, Elena Schwartz, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
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