R. Treacy

A germline mosaic BRCA1 exon deletion in a woman with bilateral basal‐like breast cancer

M. Tischkowitz, A. Girling, A. Taylor, 2013, Clinical genetics.

The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons

T. Révész, M. Goedert, M. Spillantini, 2013, Acta Neuropathologica.

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

D. Baralle, M. Raponi, F. Raymond, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

Recommendations for reporting results of diagnostic genomic testing

C. V. van Asperen, E. Dequeker, Z. Deans, 2022, European Journal of Human Genetics.

Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.

B. Shields, S. Ellard, C. Mattocks, 2009, Genetic testing and molecular biomarkers.

An Independent Assessment of a Commercial Clinical Interpretation Software Indicates That Software Can Mitigate Variation in Human Assessment

Kathryn D Bungartz, Sheryl K Elkin, J. Fairley, 2022 .