Adam C. Gunning

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A. Wai, Jenny Lord, Matthew Lyon et al. · Genetics in Medicine · 2020 · 187 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Assessing performance of pathogenicity predictors using clinically relevant variant datasets

Adam C. Gunning, Verity Fryer, James Fasham et al. · Journal of Medical Genetics · 2020 · 131 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +16

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

Karen Stals, Matthew N. Wakeling, Júlia Baptista et al. · Prenatal Diagnosis · 2017 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

Chey Loveday, Katherine Josephs, Daniel Chubb et al. · The Journal of Clinical Endocrinology & Metabolism · 2018 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 52 citations · Full text

Life Sciences, Genetics, Neuroscience +13