Stephen F. Twigg

Oxford, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 56 publications

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

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

Published: March 03, 2026

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

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

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

Published: September 16, 2025

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Journal: Genome medicine

Published: March 01, 2025

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.

Journal: Mammalian genome : official journal of the International Mammalian Genome Society

Published: January 11, 2025

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.

Journal: Clinical genetics

Published: November 24, 2024

BCL11B-related disease: a single phenotypic entity?

BCL11B-related disease: a single phenotypic entity?

Journal: European journal of human genetics : EJHG

Published: October 05, 2024

Editorial: Advances in craniosynostosis-Basic science to clinical practice.

Editorial: Advances in craniosynostosis-Basic science to clinical practice.

Journal: Journal of anatomy

Published: August 05, 2024

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.

Journal: Genetics in medicine open

Published: July 11, 2024

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

Journal: Genes

Published: June 04, 2024

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

Journal: HGG advances

Published: April 03, 2024

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

Journal: Journal of anatomy

Published: February 13, 2024

Showing 1-12 of 56

Last Updated: 09/26/2026