Publications — Radcliffe Department of Medicine

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Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.

Kilcoyne S. et al, (2020), J Craniofac Surg

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

Calpena E. et al, (2020), Genet Med, 22

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E. et al, (2020), Nature, 583, 96 - 102

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Tolchin D. et al, (2020), Am J Hum Genet, 106, 830 - 845

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

TWIGG S. et al, (2020), Bone Research

Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome.

Dupré S. et al, (2020), J Craniofac Surg

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with Attention Deficit/Hyperactivity Disorder, Craniosynostosis and Osteochondroma

WILKIE A. and Calpena E., (2020), American Journal of Human Genetics

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

Justice CM. et al, (2020), Hum Genet

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

Koelling N. et al, (2020), Bioinformatics

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Babbs C. et al, (2020), J Med Genet

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis J. et al, (2020), Nature

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

Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350

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

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

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