A. Fenwick

发表

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome

D. Prayer, A. Wilkie, A. Janecke, 2013, The Journal of pediatrics.

Novel Mutations in GJA1 Cause Oculodentodigital syndrome

M. Barron, M. Dixon, A. Fenwick, 2008, Journal of dental research.

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

S. Twigg, A. Wilkie, S. McGowan, 2017, Human molecular genetics.

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

J. Hurst, A. Wilkie, G. Nürnberg, 2012, BMC Medical Genetics.

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.

Sven Kreiborg, Pekka Nieminen, S. Kreiborg, 2011, American journal of human genetics.

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

S. Knight, P. Hammond, S. Twigg, 2013, Nature Genetics.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

John Broxholme, Elizabeth Sweeney, Angela F Brady, 2013, Nature Genetics.

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

S. Knight, A. V. D. van den Ouweland, S. Twigg, 2016, Human mutation.

Diagnostic value of exome and whole genome sequencing in craniosynostosis

J. Hurst, Jenny C. Taylor, S. Twigg, 2016, Journal of Medical Genetics.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

S. Twigg, A. Wilkie, S. McGowan, 2018, Human mutation.

A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome

A. Wilkie, S. Bowdin, A. Fenwick, 2011, BMC Medical Genetics.

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

D. Dunaway, S. Twigg, A. Wilkie, 2019, American journal of medical genetics. Part A.

TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

A. Wilkie, V. Rozé, A. Fenwick, 2015, American journal of medical genetics. Part A.

Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration

S. Twigg, A. Wilkie, C. Arvanitidis, 2023, International journal of molecular sciences.

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

A. V. D. van den Ouweland, A. Wilkie, J. Rankin, 2014, BMC Medical Genetics.

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Alexander Kanapin, J. Mulliken, J. Broxholme, 2013, Nature Genetics.