Concepedia

Gemma Poke

GP

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Publications

22

Citations

1.3K

H-Index

17

Active since

2012

Affiliations

Wellington Hospital(Current)

University of Otago

Technische Universität Dresden

Murdoch Children's Research Institute

Inserm

Gemma Poke is an author at Wellington Hospital specializing in genetics, genetic disorders, and life sciences.

ORCID

Publications per year

2012–2024

22

Publications

22

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Miriam J. Smith, James O’Sullivan, Sanjeev S. Bhaskar et al. · Nature Genetics · 2013 · 257 citations

, , +12

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 171 citations · Full text

, , +16

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 120 citations · Full text

, , +5

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Kathie J. Ngo, Jessica E. Rexach, Hane Lee et al. · Human Mutation · 2019 · 89 citations · Full text

, , +17

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

Ngoc Minh Nguyen, Yassemine Khawajkie, Nawel Mechtouf et al. · Modern Pathology · 2018 · 83 citations · Full text

, , +10

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