Rebecca C. Pollitt

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 374 citations · Full text

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015 · 299 citations · Full text

Mutation analysis of<i>COL1A1</i>and<i>COL1A2</i>in patients diagnosed with osteogenesis imperfecta type I-IV

Rebecca C. Pollitt, Robert McMahon, Janice Nunn et al. · Human Mutation · 2006 · 123 citations

Bone Disease, Base Deletion, Bone Morphogenic Protein +12

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

Meena Balasubramanian, Jane A. Hurst, Stephen Brown et al. · Bone · 2016 · 54 citations · Full text

Atypical Osteogenesis Imperfecta, Developmental Biology, Bone Morphogenic Protein +10

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Cecilia Giunta, Matthias Baumann, Christine Fauth et al. · Genetics in Medicine · 2017 · 41 citations · Full text

Engineering, Immunodeficiencies, Genetic Epidemiology +22