Duncan M. Baker

Sheffield, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 40 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

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

Journal: European journal of human genetics : EJHG
Published: June 27, 2024

Feeder-free culture of human pluripotent stem cells drives MDM4-mediated gain of chromosome 1q.

Feeder-free culture of human pluripotent stem cells drives MDM4-mediated gain of chromosome 1q.

Journal: Stem cell reports
Published: May 24, 2024

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

Journal: European journal of human genetics : EJHG
Published: April 19, 2024

Gain of 20q11.21 in human pluripotent stem cells enhances differentiation to retinal pigment epithelium.

Gain of 20q11.21 in human pluripotent stem cells enhances differentiation to retinal pigment epithelium.

Journal: Stem cell research & therapy
Published: February 02, 2024

Epigenetic dynamics during capacitation of naïve human pluripotent stem cells.

Epigenetic dynamics during capacitation of naïve human pluripotent stem cells.

Journal: Science advances
Published: September 29, 2023

Quality of amoxicillin/clavulanic acid oral formulations for intended veterinary use in the UK, Malaysia, Serbia and Thailand.

Quality of amoxicillin/clavulanic acid oral formulations for intended veterinary use in the UK, Malaysia, Serbia and Thailand.

Journal: The Journal of small animal practice
Published: December 07, 2022

Single Nucleotide Polymorphism (SNP) Arrays and Their Sensitivity for Detection of Genetic Changes in Human Pluripotent Stem Cell Cultures.

Single Nucleotide Polymorphism (SNP) Arrays and Their Sensitivity for Detection of Genetic Changes in Human Pluripotent Stem Cell Cultures.

Journal: Current protocols
Published: November 25, 2022
Showing 1-12 of 40

Last Updated: 09/26/2026