Concepedia

Roy Poh

RP

Statistics

Publications

12

Citations

473

H-Index

11

Active since

2017

Affiliations

National Hospital for Neurology and Neurosurgery(Current)

University College London

Norfolk and Norwich University Hospital

Great Ormond Street Hospital

University of Miami

Roy Poh is an author at National Hospital for Neurology and Neurosurgery specializing in medical genetics, genetics, and genetic disorders.

Publications per year

2017–2024

12

Publications

12

Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease

Andrea Cortese, Janel E. Wilcox, James M. Polke et al. · Neurology · 2019 · 101 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Menelaos Pipis, Shawna Feely, James M. Polke et al. · Brain · 2020 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT

Pedro José Tomaselli, Alexander M. Rossor, Alejandro Horga et al. · Neurology · 2017 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Genetic and clinical characteristics of<i>NEFL</i>-related Charcot-Marie-Tooth disease

Alejandro Horga, Matilde Laurá, Zane Jaunmuktane et al. · Journal of Neurology Neurosurgery & Psychiatry · 2017 · 43 citations

Life Sciences, Genetics, Neurology +16

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

Christopher J. Record, Menelaos Pipis, Mariola Skorupinska et al. · Brain · 2024 · 39 citations · Full text

Life Sciences, Genetics, Neurology +17

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