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Duncan Baker

University of Sheffield
Boston Children's Hospital

44

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Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.

2021 Journal of Medical Genetics
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Nanopore sequencing indicates that tandem amplification of chromosome 20q11.21 in human pluripotent stem cells is driven by break induced replication.

2021 Stem Cells and Development
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Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study.

2021 Archives of Disease in Childhood
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Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta.

2021 Ultrastructural Pathology
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Template switching mechanism drives the tandem amplification of chromosome 20q11.21 in human pluripotent stem cells

2020 bioRxiv
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Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

2020 Genetics in Medicine
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Arterial complications in classical Ehlers-Danlos syndrome: a case series.

2020 Journal of Medical Genetics
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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

2020 American Journal of Medical Genetics Part A
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Wnt inhibition facilitates RNA-mediated reprogramming of human somatic cells to naive pluripotency

2019 The Molecular Biology Society of Japan
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Wnt Inhibition Facilitates RNA-Mediated Reprogramming of Human Somatic Cells to Naive Pluripotency

2019 Stem cell reports
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