Reuben J. Pengelly

Collagen (<i>COL4A</i>) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Christine Gast, Reuben J. Pengelly, Matthew Lyon et al. · Nephrology Dialysis Transplantation · 2015 · 242 citations · Full text

Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly

Reuben J. Pengelly, Stephanie Greville‐Heygate, Susanne Schmidt et al. · Journal of Medical Genetics · 2016 · 85 citations · Full text

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

Sunayna Best, Amelia Shoemark, Bruna Rubbo et al. · Thorax · 2018 · 75 citations · Full text

Clinical efficacy of a next‐generation sequencing gene panel for primary immunodeficiency diagnostics

William Rae, Daniel Ward, C. Mattocks et al. · Clinical Genetics · 2017 · 69 citations · Full text

Genetic Testing, Gene Panel, Human Immune System +22

A SNP profiling panel for sample tracking in whole-exome sequencing studies

Reuben J. Pengelly, Jane Whitney Gibson, Gaia Andreoletti et al. · Genome Medicine · 2013 · 66 citations · Full text

Genetics, Genetic Epidemiology, Transcriptomics Technology +22