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Sarah L. Nickerson

Consultation informs strategies for improving the use of functional evidence in variant classification
2025 · Rehan M. Villani, Bronwyn Terrill, et al. · The American Journal of Human Genetics · 15
Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement
2021 · Rebecca E. Brereton, Sarah L. Nickerson, et al. · American Journal of Medical Genetics Part A · 8
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia
2016 · Shanti Balasubramaniam, Philippa Dryland, et al. · Journal of Pediatric Genetics · 6
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
2015 · Sarah Nickerson, Renate Marquis-Nicholson, et al. · Microarrays · 6
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Chromothripsis in constitutional germline testing
2026 · Jane Estrella, Brian Tan, et al. · Pathology
The impact of the medicare benefits schedule on genetic testing in hereditary breast and ovarian cancer: An audit of test request practices in Western Australia
2018 · Sarah L. Nickerson, Jamie-Lee Ricciardi, et al. · Pathology
The development of a rapid molecular assay for severe combined immunodeficiency (SCID) using dried blood spots
2017 · Sarah L. Nickerson, Philippa A. Dryland, et al. · Pathology
A comparison of benchtop high-throughput sequencing platforms in the diagnostic laboratory setting
2016 · Sarah L. Nickerson, Debra O. Prosser, et al. · Pathology
A workflow for the detection and classification of variants in the BRCA1 and BRCA2 genes
2016 · Sarah L. Nickerson, Stella W.S. Lai, et al. · Pathology
SNP analysis and whole exome sequencing: Their application in the analysis of a consanguineous pedigree segregating ataxia
2016 · Sarah L. Nickerson, Renate Marquis-Nicholson, et al. · Pathology
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Works count: 10
Citation count: 35
H-index: 4
I10-index: 1
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