Sarah J. Beecroft

Kensington, WA, Australia

Last Updated: 09/26/2026

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Found 19 publications

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Journal: Nature communications
Published: October 17, 2024

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 15, 2024

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Journal: Nature communications
Published: September 29, 2023

Hecatomb: an integrated software platform for viral metagenomics.

Hecatomb: an integrated software platform for viral metagenomics.

Journal: GigaScience
Published: July 17, 2023

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Journal: Acta neuropathologica
Published: September 15, 2022

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Journal: Genome biology
Published: March 30, 2022

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.

Journal: Genome biology
Published: November 29, 2021

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Journal: Molecular diagnosis & therapy
Published: September 05, 2020

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.

Journal: Human mutation
Published: August 27, 2020

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.

Journal: Brain : a journal of neurology
Published: March 12, 2020

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

Journal: Annals of clinical and translational neurology
Published: December 16, 2019
Showing 1-12 of 19

Last Updated: 09/26/2026