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S. Beecroft · SciRah

Researcher profile · Semantic Scholar

S. Beecroft

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S. Beecroft — researcher profile on SciRah

h-index: 16
Works: 30
Citations: 846

Most-cited papers

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
A. Cortese, S. Tozza, Wai Y. Yau, Salvatore Rossi +38 more
2020Brain : a journal of neurology211 citations Open access
Semantic Scholar
Corrigendum to: A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
C. Scriba, S. Beecroft, Joshua S. Clayton, N. Dominik +1 more
2021Brain : a journal of neurology86 citations Open access
Semantic Scholar
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
A. Bournazos, L. Riley, Shobhana Bommireddipalli, L. Adès +212 more
2021Genetics in Medicine85 citations Open access
Semantic Scholar
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
S. Beecroft, A. Cortese, R. Sullivan, Wai Y. Yau +15 more
2020Brain : a journal of neurology68 citations Open access
Semantic Scholar
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
H. Dashnow, B. Pedersen, Laurel Hiatt, Joseph Brown +10 more
2021bioRxiv52 citations Open access
Semantic Scholar
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
S. Beecroft, K. Yau, R. Allcock, K. Mina +16 more
2020Annals of Clinical and Translational Neurology42 citations Open access
Semantic Scholar
Genetics of neuromuscular fetal akinesia in the genomics era
S. Beecroft, M. Lombard, D. Mowat, C. Mclean +4 more
2018Journal of Medical Genetics40 citations Open access
Semantic Scholar
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
R. Curro', N. Dominik, S. Facchini, E. Vegezzi +154 more
2023medRxiv36 citations Open access
Semantic Scholar
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A. Cortese, S. Beecroft, S. Facchini, R. Curro' +80 more
2023Nature Communications30 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum associated with mutations of DYNC1H1.
S. Beecroft, C. Mclean, M. Delatycki, K. Koshy +7 more
2017Neuromuscular Disorders30 citations Open access
Semantic Scholar
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
C. Weihl, A. Töpf, R. Bengoechea, J. Duff +18 more
2022bioRxiv27 citations Open access
Semantic Scholar
Workflows Community Summit 2024: Future Trends and Challenges in Scientific Workflows
Rafael Ferreira da Silva, Deborah Bard, K. Chard, Shaun De Witt +107 more
2024arXiv.org24 citations
Semantic Scholar
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.
E. Abdalla, G. Ravenscroft, L. Zayed, S. Beecroft +1 more
2017Neuromuscular Disorders21 citations
Semantic Scholar
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
S. Beecroft, Marcos Ayala, G. McGillivray, Vikas Nanda +13 more
2021Human Mutation17 citations Open access
Semantic Scholar
Recessive MYH7-related myopathy in two families.
S. Beecroft, M. van de Locht, J. D. de Winter, C. Ottenheijm +12 more
2019Neuromuscular Disorders17 citations Open access
Semantic Scholar
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Patricia Sullivan, V. Gayevskiy, R. Davis, Marie Wong +14 more
2023Genome Biology16 citations Open access
Semantic Scholar
Hecatomb: An End-to-End Research Platform for Viral Metagenomics
M. Roach, S. Beecroft, Kathie A. Mihindukulasuriya, Le-Ran Wang +6 more
202214 citations
Semantic Scholar
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders
S. Beecroft, P. Lamont, S. Edwards, H. Goullée +3 more
2020Molecular Diagnosis & Therapy14 citations
Semantic Scholar
Cylindrical spirals in two families: Clinical and genetic investigations.
S. Beecroft, M. Olivé, L. G. Quereda, M. P. Gallano +5 more
2019Neuromuscular Disorders12 citations Open access
Semantic Scholar
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features
J. De Winter, L. Van de Vondel, Biljana Ermanoska, Alice Monticelli +34 more
2024medRxiv2 citations Open access
Semantic Scholar
Autosomal dominant lower limb restricted congenital myopathy
M. Delatycki, A. Churchyard, E. Yiu, Mark R. Davis +4 more
20162 citations
Semantic Scholar
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
C. Scriba, S. Beecroft, Joshua S. Clayton, A. Cortese +16 more
2020Brain : a journal of neurology1 citations Open access
Semantic Scholar
NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES
P. Sullivan, C. Mayoh, M. Wong-Erasmus, V. Gayevskiy +4 more
2020Neuromuscular Disorders1 citations
Semantic Scholar
Pawsey Training Goes Remote: Experiences and Best Practices
A. Backhaus, S. Beecroft, Lachlan Campbell, M. Cytowski +5 more
2021The Journal of Computational Science Education0 citations Open access
Semantic Scholar
APPLICATION OF NEXT GENERATION TECHNOLOGIES
C. Scriba, Fathimath Faiz, P. Lamont, N. Laing +3 more
2021Neuromuscular Disorders0 citations
Semantic Scholar
OP-BRAI200202 1..8
S. Beecroft, A. Cortese, R. Sullivan, Wai Y. Yau +15 more
20200 citations
Semantic Scholar
P.108Recessive MYH7-related myopathy in two families
S. Beecroft, M. van de Locht, J. D. de Winter, C. Ottenheijm +12 more
2019Neuromuscular Disorders0 citations
Semantic Scholar
Gene discovery and diagnosis using classical and new genetic tools
S. Beecroft
20190 citations
Semantic Scholar
Genetic and histological characterisation of excitation-contraction coupling related structural myopathy cohort
S. Beecroft, R. Choi, Catriona McLean, M. Olivé +5 more
20170 citations
Semantic Scholar
Efficacy of next-generation sequencing in molecular diagnosis of archived DNA samples
S. Beecroft, Royston Ong, K. Yau, R. Duff +4 more
20150 citations
Semantic Scholar

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