Publications by authors named "Stephen R F Twigg"

46Publications

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of .

Mol Syndromol 2019 Feb 3;10(1-2):40-47. Epub 2018 Jul 3.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco (CEGH-CEL), Curitiba, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000490635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422142PMC
February 2019

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Hum Mutat 2018 10 7;39(10):1360-1365. Epub 2018 Aug 7.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175480PMC
October 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Am J Med Genet A 2017 Jun 6;173(6):1586-1592. Epub 2017 Apr 6.

Department of Pediatrics, University of California San Diego and Rady Children's Hospital - San Diego, San Diego, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933242PMC
June 2017

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Am J Hum Genet 2015 Sep;97(3):378-88

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564895PMC
September 2015

A Genetic-Pathophysiological Framework for Craniosynostosis.

Am J Hum Genet 2015 Sep;97(3):359-77

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564941PMC
September 2015

New insights into craniofacial malformations.

Hum Mol Genet 2015 Oct 17;24(R1):R50-9. Epub 2015 Jun 17.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571997PMC
October 2015

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

J Med Genet 2014 Nov 16;51(11):737-47. Epub 2014 Sep 16.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK NIHR Biomedical Research Centre, Oxford, UK Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2014-102582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215269PMC
November 2014

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Am J Hum Genet 2012 Jul 27;91(1):193-201. Epub 2012 Jun 27.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397259PMC
July 2012

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Hum Mutat 2011 Aug 12;32(8):930-8. Epub 2011 Jul 12.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170877PMC
August 2011

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Pediatrics 2010 Aug 19;126(2):e391-400. Epub 2010 Jul 19.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2009-3491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535761PMC
August 2010

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Dev Dyn 2009 Feb;238(2):331-42

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvdy.21790DOI Listing
February 2009

Hearing loss in a mouse model of Muenke syndrome.

Hum Mol Genet 2009 Jan 25;18(1):43-50. Epub 2008 Sep 25.

Department of Human Genetics, University of Utah, Salt Lake City, UT 84112-5330, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddn311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644644PMC
January 2009

A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

Hum Genet 2007 Sep 14;122(2):191-9. Epub 2007 Jun 14.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-007-0390-7DOI Listing
September 2007

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Eur J Hum Genet 2006 Jul 26;14(7):884-7. Epub 2006 Apr 26.

Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, South Yorkshire, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201633DOI Listing
July 2006

Functional analysis of natural mutations in two TWIST protein motifs.

Hum Mutat 2005 Jun;25(6):550-6

Human Gene Sciences Center, Tokyo Medical and Dental University, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20176DOI Listing
June 2005

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Proc Natl Acad Sci U S A 2004 Jun 27;101(23):8652-7. Epub 2004 May 27.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0402819101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC423250PMC
June 2004

Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics.

Development 2004 Jan 10;131(2):325-35. Epub 2003 Dec 10.

School of Biosciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1242/dev.00940DOI Listing
January 2004