Researcher profile · Semantic Scholar

A. Fenwick

h-index: 15
Works: 22
Citations: 1,444

Most-cited papers

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor, H. Martin, S. Lise, J. Broxholme +106 more
2015Nature Genetics389 citations Open access
Semantic Scholar
Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Vikram P. Sharma, A. Fenwick, Mia S. Brockop, S. McGowan +22 more
2013Nature Genetics203 citations Open access
Semantic Scholar
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.
P. Nieminen, N. Morgan, A. Fenwick, S. Parmanen +13 more
2011American Journal of Human Genetics191 citations Open access
Semantic Scholar
Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signaling to regulation of osteogenesis
S. Twigg, Elena Vorgia, S. McGowan, Ioanna Peraki +23 more
2013Nature Genetics160 citations Open access
Semantic Scholar
Diagnostic value of exome and whole genome sequencing in craniosynostosis
K. A. Miller, S. Twigg, S. McGowan, J. Phipps +23 more
2016Journal of Medical Genetics119 citations Open access
Semantic Scholar
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
A. Fenwick, Maciej Kliszczak, Fay Cooper, J. Murray +29 more
2016American Journal of Human Genetics111 citations Open access
Semantic Scholar
ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
G. Glass, J. O'Hara, N. Canham, D. Cilliers +17 more
2019American Journal of Medical Genetics. Part A46 citations Open access
Semantic Scholar
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in C. elegans
Sharon Kim, S. Twigg, Victoria A Scanlon, Aditi Chandra +12 more
2017Human Molecular Genetics28 citations Open access
Semantic Scholar
Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly—Mental Retardation Syndrome
J. Vodopiutz, H. Zoller, A. Fenwick, R. Arnhold +8 more
2013Jornal de Pediatria28 citations Open access
Semantic Scholar
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis
J. Goos, A. Fenwick, Sigrid M. A. Swagemakers, Simon J. McGowan +10 more
2016Human Mutation26 citations Open access
Semantic Scholar
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
C. Bendon, A. Fenwick, J. Hurst, G. Nürnberg +4 more
2012BMC Medical Genetics26 citations Open access
Semantic Scholar
Novel Mutations in GJA1 Cause Oculodentodigital Syndrome
A. Fenwick, R. J. Richardson, J. Butterworth, M. Barron +1 more
2008Journal of dentistry research26 citations Open access
Semantic Scholar
Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome
Yan Zhou, Nils Koelling, A. Fenwick, S. McGowan +5 more
2018Human Mutation21 citations Open access
Semantic Scholar
A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome
A. Fenwick, S. Bowdin, R. Klatt, A. Wilkie
2011BMC Medical Genetics20 citations Open access
Semantic Scholar
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome
A. Fenwick, J. Goos, J. Rankin, H. Lord +6 more
2014BMC Medical Genetics18 citations Open access
Semantic Scholar
TCF12 microdeletion in a 72‐year‐old woman with intellectual disability
J. Piard, V. Rozé, A. Czorny, M. Lenoir +4 more
2015American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Vikram P. Sharma, A. Fenwick, Mia S. Brockop, S. McGowan +23 more
201312 citations Open access
Semantic Scholar
Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration
Angeliki Vogiatzi, K. Keklikoglou, Konstantinos Makris, Dionysia Stamatia Argyrou +15 more
2023International Journal of Molecular Sciences5 citations Open access
Semantic Scholar
S14-08 SESSION 14
G. Glass, J. O'Hara, N. Canham, D. Cilliers +17 more
2019Plastic and Reconstructive Surgery - Global Open0 citations Open access
Semantic Scholar
The identification and characterisation of disease genes in craniosynostosis
A. Fenwick
20150 citations
Semantic Scholar
Diagnostic outcomes in craniofacial surgery are improved by use of next-generation dna sequencing
Vikram P. Sharma, A. Fenwick, J. Goos, S. Twigg +2 more
20140 citations
Semantic Scholar
Homozygous SALL1 mutation causes a novel multiple congenital anomaly mental retardation syndrome
J. Vodopiutz, H. Zoller, A. Fenwick, R. Arnhold +8 more
20130 citations
Semantic Scholar

S. McGowan

×8

L. Wilson×7

J. Goos×6

H. Lord×6

T. Lester×6

E. Sweeney×5

Vikram P. Sharma×4

A. Hoogeboom×4