Publications — Radcliffe Department of Medicine

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

van Woerden GM. et al, (2021), Hum Mutat

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.

Calpena E. et al, (2021), J Med Genet

A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra.

Wu Y. et al, (2020), J Genet Genomics

Neurodevelopmental, cognitive and psychosocial outcomes for individuals with pathogenic variants in the TCF12 gene and associated craniosynostosis: a multicentre retrospective study

WILKIE A. et al, (2020), Journal of Craniofacial Surgery

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

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Chatron N. et al, (2020)

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

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Babbs C. et al, (2020), J Med Genet, 57, 414 - 421

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

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

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