Andrew H. Crosby

Barrack Road
Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 94 publications

Proteasome dysfunction underlies HERC2-linked neurodevelopmental disorder with Angelman-like clinical features.

Proteasome dysfunction underlies HERC2-linked neurodevelopmental disorder with Angelman-like clinical features.

Journal: Cell death discovery

Published: January 26, 2026

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.

Journal: BMC neurology

Published: December 23, 2025

Membrane curvature elastic stress triggers recruitment of PML-II onto the inner nuclear membrane.

Membrane curvature elastic stress triggers recruitment of PML-II onto the inner nuclear membrane.

Journal: Molecular biology of the cell

Published: December 10, 2025

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Journal: American journal of human genetics

Published: July 28, 2025

Response to Haliloğlu et al.

Response to Haliloğlu et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 22, 2025

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

Journal: Annals of neurology

Published: March 16, 2025

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.

Journal: American journal of medical genetics. Part A

Published: January 30, 2025

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Journal: American journal of human genetics

Published: November 19, 2024

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.

Journal: Orphanet journal of rare diseases

Published: November 06, 2024

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.

Journal: Cells

Published: April 30, 2024

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Journal: Journal of clinical immunology

Published: April 30, 2024

Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.

Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.

Journal: BMC neurology

Published: April 02, 2024

Showing 1-12 of 94

Last Updated: 09/26/2026