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List of works by Aimée L Fenwick

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

scientific article

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

scientific article

Diagnostic value of exome and whole genome sequencing in craniosynostosis

scientific article

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

scientific article

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

scientific article published on 12 October 2012

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

scientific article

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

scientific article published on 29 June 2016

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

scientific article published on 27 January 2013

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

scientific article

TCF12 microdeletion in a 72-year-old woman with intellectual disability.

scientific article

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