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Neuromuscular Disorders : NMD|March 25, 2017
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin geneEbtesam Abdalla, Gianina Ravenscroft, Louay Zayed, et al.
Molecular Diagnosis & Therapy|September 30, 2020
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular DisordersSarah J Beecroft, Phillipa J Lamont, Samantha Edwards, et al.
Neuromuscular Disorders : NMD|January 19, 2020
Cylindrical spirals in two families: Clinical and genetic investigationsSarah J Beecroft, Montse Olive, Lidia Gonzalez Quereda, et al.
Neuromuscular Disorders : NMD|May 31, 2017
Expanding the phenotypic spectrum associated with mutations of DYNC1H1Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, et al.
Gigascience|June 4, 2024
Hecatomb: an integrated software platform for viral metagenomicsMichael J Roach, Sarah J Beecroft, Kathie A Mihindukulasuriya, et al.
Genome Biology|December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel lociHarriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Human Mutation|February 10, 2021
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defectsSarah J Beecroft, Marcos Ayala, George McGillivray, et al.
Neuromuscular Disorders : NMD|May 28, 2019
Recessive MYH7-related myopathy in two familiesSarah J Beecroft, Martijn van de Locht, Josine M de Winter, et al.
Brain : a Journal of Neurology|August 28, 2020
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder alleleSarah J Beecroft, Andrea Cortese, Roisin Sullivan, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, et al.
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