Carol-anne S. Martin

Edinburgh, SCT, United Kingdom

Last Updated: 09/26/2026

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Found 18 publications

A progeria syndrome links DNA hypermethylation to age-related pathology.

A progeria syndrome links DNA hypermethylation to age-related pathology.

Journal: Nature genetics
Published: April 07, 2025

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 loss-of-function mutations cause microcephaly and short stature.

Journal: Genes & development
Published: September 20, 2024

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics
Published: May 03, 2024

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 29, 2020

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.

Journal: American journal of ophthalmology
Published: December 29, 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics
Published: September 08, 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics
Published: April 30, 2018

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Journal: Nature genetics
Published: March 12, 2018

Pasteurella multocida line infection: a case report and review of literature.

Pasteurella multocida line infection: a case report and review of literature.

Journal: BMC infectious diseases
Published: March 06, 2018

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.

Journal: Genes & development
Published: June 02, 2017

cGAS surveillance of micronuclei links genome instability to innate immunity.

cGAS surveillance of micronuclei links genome instability to innate immunity.

Journal: Nature
Published: July 03, 2016

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Journal: Genes & development
Published: June 29, 2016
Showing 1-12 of 18

Last Updated: 09/26/2026