Glenda M. Beaman

Hereditary Alpha-Tryptasemia: UK Prevalence and Variability in Disease Expression

Rebecca C. Robey, Amy Wilcock, Hope Bonin et al. · The Journal of Allergy and Clinical Immunology In Practice · 2020 · 111 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer

D. Gareth Evans, Elke M. van Veen, Helen Byers et al. · The American Journal of Human Genetics · 2018 · 92 citations · Full text

Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care

John McDermott, Ajit Mahaveer, Rachel James et al. · JAMA Pediatrics · 2022 · 80 citations · Full text

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Charlie F Rowlands, Huw B. Thomas, Jenny Lord et al. · Scientific Reports · 2021 · 63 citations · Full text

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Irit Hochberg, Leigh Demain, Julie Richer et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Genetics, Molecular Biology, Pathology +18