Concepedia

P. Dean

PD

5

Publications

211

Citations

5

H-Index

2016

Active since

Affiliations

University of Bristol(Current)

North Bristol NHS Trust

King's College London

Southmead Hospital

National Health Service

P. Dean is an author at University of Bristol specializing in pathogenesis, molecular biology, and sequencing.

Top concepts

Publications per year

2016–2022

5

Publications

5

MAGI2 Mutations Cause Congenital Nephrotic Syndrome

Agnieszka Bierżyńska, Katrina Soderquest, P. Dean et al. · Journal of the American Society of Nephrology · 2016 · 75 citations · Full text

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 · 74 citations · Full text

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 · 28 citations

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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 · 18 citations · Full text

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

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