Simon J. Mcgowan

Oxford, ENG OX39DS, United Kingdom

Last Updated: 09/26/2026

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Found 53 publications

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

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

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

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2023

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Journal: Journal of medical genetics
Published: July 24, 2023

Germinal centers output clonally diverse plasma cell populations expressing high- and low-affinity antibodies.

Germinal centers output clonally diverse plasma cell populations expressing high- and low-affinity antibodies.

Journal: Cell
Published: March 31, 2023

Single cell spatial analysis reveals inflammatory foci of immature neutrophil and CD8 T cells in COVID-19 lungs.

Single cell spatial analysis reveals inflammatory foci of immature neutrophil and CD8 T cells in COVID-19 lungs.

Journal: Nature communications
Published: January 31, 2023

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 22, 2022

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Journal: Genome medicine
Published: December 14, 2022

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Journal: Human mutation
Published: February 16, 2021

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Journal: Journal of medical genetics
Published: September 17, 2020

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 09, 2020
Showing 1-12 of 53

Last Updated: 09/26/2026