Sylvia Keigwin

Sheffield, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 8 publications

Complexity of genomic diagnosis: Lessons learnt from the UK Biobank and Generation study newborn genome sequencing analyses.

Complexity of genomic diagnosis: Lessons learnt from the UK Biobank and Generation study newborn genome sequencing analyses.

Journal: Bone

Published: March 25, 2026

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

Journal: European journal of human genetics : EJHG

Published: January 30, 2026

Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.

Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.

Journal: Journal of medical genetics

Published: October 29, 2025

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

Journal: European journal of human genetics : EJHG

Published: July 23, 2025

Family mapping of previously identified patients with pathogenic or likely pathogenic ALPL variants using predictive genotyping and detailed phenotyping approach: the FAME case-control study.

Family mapping of previously identified patients with pathogenic or likely pathogenic ALPL variants using predictive genotyping and detailed phenotyping approach: the FAME case-control study.

Journal: JBMR plus

Published: December 27, 2024

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.

Journal: European journal of human genetics : EJHG

Published: October 24, 2022

Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Journal: Clinical case reports

Published: April 13, 2022

High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.

High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.

Journal: Bone reports

Published: June 13, 2021

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Last Updated: 09/26/2026