Publications — Radcliffe Department of Medicine

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A genome-wide association study implicates BMP7 as a risk factor for nonsyndromic metopic craniosynostosis

Justice CM. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1276 - 1277

BMP2 or not BMP2? A SMAD6-related question in craniosynostosis

Calpena E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1277 - 1278

The PREGCARE study: precision genetic counselling via personalised evaluation of recurrence risk for families with a child affected by a disorder caused by a de novo mutation

Abdullah UB. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1101 - 1102

amplimap: a versatile tool to process and analyze targeted NGS data.

Koelling N. et al, (2019), Bioinformatics

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.

Maher GJ. et al, (2019), Hum Reprod

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J. et al, (2019), Genome Med, 11

How to detect mobile retrocopies during routine genetic testing and manage pitfalls

Chatron N. et al, (2019), MOLECULAR CYTOGENETICS, 12

Assessing the landscape of selfish de novo mutations in human testes

Maher GJ. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 825 - 825

Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome.

Kilcoyne S. et al, (2019), J Craniofac Surg, 30, 1506 - 1511

Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome

Vasileiou G. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 805 - 806

Identification of mobile retrocopies during genetic testing: consequences for routine diagnosis.

Chatron N. et al, (2019), Hum Mutat

Germline selection shapes human mitochondrial DNA diversity.

Wei W. et al, (2019), Science, 364

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.

Calpena E. et al, (2019), Am J Hum Genet, 104, 709 - 720

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE. et al, (2019), Am J Med Genet A, 179, 615 - 627

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T. et al, (2019), Haematologica, 104, 609 - 621

Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome.

Kilcoyne S. et al, (2019), J Craniofac Surg

Enabling global clinical collaborations on identifiable patient data: The Minerva initiative

Nellåker C. et al, (2019), Frontiers in Genetics, 10

Language development, hearing loss and intracranial hypertension in children with TWIST1-confirmed Saethre-Chotzen syndrome: a longitudinal retrospective review of patients in the Oxford Craniofacial Unit.

WILKIE ANDREW. et al, (2019), Journal of Craniofacial Surgery

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Maher GJ. et al, (2018), Genome Res, 28, 1779 - 1790

A dominant-negative mutation in the BTB domain of KCTD15 in a family with frontal lipoma, congenital heart disease and cutis aplasia of the scalp defines a novel syndrome

Miller KA. et al, (2018), EUROPEAN JOURNAL OF HUMAN GENETICS, 26, 233 - 234

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