P. Dean

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Ethan S Sen, P. Dean, Laura Yarram-Smith et al. · Journal of Medical Genetics · 2017 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MAGI2 Mutations Cause Congenital Nephrotic Syndrome

Agnieszka Bierżyńska, Katrina Soderquest, P. Dean et al. · Journal of the American Society of Nephrology · 2016 · 79 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome

Christopher M. Watson, P. Dean, Nick Camm et al. · Human Mutation · 2019 · 32 citations

Life Sciences, Genetics, Molecular Genetics +17

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Agnieszka Bierżyńska, Katherine R. Bull, Sara Miellet et al. · Pediatric Nephrology · 2022 · 19 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +14