Julie Anderson

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma

Suzanne Richter, Kirk Vandezande, Ning Chen et al. · The American Journal of Human Genetics · 2003 · 330 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Charaka Hadinnapola, Marta Bleda, Matthias Haimel et al. · Circulation · 2017 · 145 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

James H. R. Farmery, Mike L. Smith, Aarnoud Huissoon et al. · Scientific Reports · 2018 · 90 citations · Full text

Life Sciences, Cell Biology, Genetics +11

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

James Whitworth, Philip Smith, Jose‐Ezequiel Martín et al. · The American Journal of Human Genetics · 2018 · 73 citations · Full text

Life Sciences, Genetics, Oncology +17