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Neuropathology and Applied Neurobiology|January 16, 2025
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar MyopathyLaura Llansó, Gianina Ravenscroft, Cristina Aceituno, et al.
Neuromuscular Disorders : NMD|September 2, 2006
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutationAdele D'Amico, Claudio Graziano, Giuseppe Pacileo, et al.
Prenatal Diagnosis|November 28, 2019
International perspectives on the implementation of reproductive carrier screeningMartin B Delatycki, Fowzan Alkuraya, Alison Archibald, et al.
Journal of the Peripheral Nervous System : JPNS|June 11, 2024
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicingBianca R Grosz, Jevin M Parmar, Melina Ellis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2020
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3Daniel Peter Sayer Osborn, Leila Emrahi, Joshua Clayton, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
Acta Neuropathologica|October 20, 2022
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failureConrad C Weihl, Ana Töpf, Rocio Bengoechea, et al.
Orphanet Journal of Rare Diseases|June 12, 2016
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical serviceGareth Baynam, Nicholas Pachter, Fiona McKenzie, et al.
BMJ Open|June 16, 2026
Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocolJanet C Long, Alison D Archibald, Klay Lamprell, et al.
Acta Neuropathologica Communications|July 9, 2022
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsiesClémence Labasse, Guy Brochier, Ana-Lia Taratuto, et al.
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