Zandra A. Jenkins

Dunedin, OTA 9016, New Zealand

Last Updated: 09/26/2026

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Found 23 publications

Impaired retinoic acid receptor-γ signaling underlies a heritable form of urothelial keratinizing squamous metaplasia.

Impaired retinoic acid receptor-γ signaling underlies a heritable form of urothelial keratinizing squamous metaplasia.

Journal: HGG advances
Published: January 15, 2026

A functional role for Septin-2 in the maintenance of the axon initial segment and in human cognitive development.

A functional role for Septin-2 in the maintenance of the axon initial segment and in human cognitive development.

Journal: Brain : a journal of neurology
Published: October 19, 2024

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Journal: HGG advances
Published: September 22, 2024

The hinge-1 domain of Flna is not necessary for diverse physiological functions in mice.

The hinge-1 domain of Flna is not necessary for diverse physiological functions in mice.

Journal: European journal of clinical investigation
Published: June 06, 2024

Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.

Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.

Journal: American journal of medical genetics. Part A
Published: March 10, 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

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Journal: HGG advances
Published: October 20, 2023

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

Journal: Human mutation
Published: December 06, 2021

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Journal: HGG advances
Published: July 12, 2021

Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.

Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.

Journal: American journal of medical genetics. Part A
Published: April 29, 2021

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.

Journal: Human mutation
Published: December 05, 2019

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.

Journal: The Journal of clinical endocrinology and metabolism
Published: September 25, 2019
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Last Updated: 09/26/2026