Thomas Cullup

Great Ormond Street Hospital
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 37 publications

Genomic Approaches to Diagnosis in Congenital and Developmental Cataract: Comparison of Panel Versus Whole Genome Sequencing, Diagnostic Yield, Variant Spectrum, Genotype-Phenotype Correlations, and Implications for Counseling.

Genomic Approaches to Diagnosis in Congenital and Developmental Cataract: Comparison of Panel Versus Whole Genome Sequencing, Diagnostic Yield, Variant Spectrum, Genotype-Phenotype Correlations, and Implications for Counseling.

Journal: American journal of ophthalmology

Published: December 31, 2025

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

Journal: Brain : a journal of neurology

Published: June 13, 2025

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Journal: Brain : a journal of neurology

Published: June 13, 2025

Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.

Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.

Journal: The British journal of dermatology

Published: May 31, 2025

Becker naevi are associated with neurologic abnormalities.

Becker naevi are associated with neurologic abnormalities.

Journal: Journal of the American Academy of Dermatology

Published: February 18, 2024

Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.

Inflammatory linear verrucous epidermal nevus should be genotyped to direct treatment and genetic counseling.

Journal: Journal of the American Academy of Dermatology

Published: August 24, 2023

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.

Journal: The Journal of investigative dermatology

Published: July 12, 2023

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

Journal: Journal of neuromuscular diseases

Published: September 04, 2022

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.

Journal: JIMD reports

Published: July 22, 2022

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.

Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.

Journal: Neurology. Genetics

Published: February 12, 2021

A practical approach to the genomics of kidney disorders.

A practical approach to the genomics of kidney disorders.

Journal: Pediatric nephrology (Berlin, Germany)

Published: December 04, 2020

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Journal: Ophthalmology

Published: December 19, 2019

Showing 1-12 of 37

Last Updated: 09/26/2026