Gemma Poke

Wellington, WGN, New Zealand

Last Updated: 09/26/2026

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Found 36 publications

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Journal: European journal of human genetics : EJHG

Published: April 02, 2025

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Journal: Human mutation

Published: May 25, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.

Journal: American journal of human genetics

Published: December 19, 2023

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Journal: American journal of medical genetics. Part A

Published: October 14, 2023

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Journal: American journal of human genetics

Published: September 23, 2023

Genotype and phenotype correlation of PHACTR1-related neurological disorders.

Genotype and phenotype correlation of PHACTR1-related neurological disorders.

Journal: Journal of medical genetics

Published: September 14, 2023

Mitochondrial disease in New Zealand: a nationwide prevalence study.

Mitochondrial disease in New Zealand: a nationwide prevalence study.

Journal: Internal medicine journal

Published: March 18, 2023

Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.

Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.

Journal: Neurology

Published: July 29, 2022

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

Journal: American journal of medical genetics. Part A

Published: February 20, 2022

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation

Published: November 18, 2021

Showing 1-12 of 36

Last Updated: 09/26/2026