Steven A Wall

Steven A Wall

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Steven A Wall

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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.

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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:

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

Clinical genetics of craniosynostosis.

Curr Opin Pediatr 2017 12;29(6):622-628

aClinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital bOxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre cCraniofacial Unit, John Radcliffe Hospital, Headington, Oxford, UK.

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http://dx.doi.org/10.1097/MOP.0000000000000542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681249PMC
December 2017

The Management of Trigonoscaphocephaly as a Result of Combined Metopic and Sagittal Synostosis.

Plast Reconstr Surg 2017 Jun;139(6):1325e-1332e

Oxford, United Kingdom From the Department of Plastic and Reconstructive Surgery, Oxford Craniofacial Unit, West Wing, John Radcliffe Hospital.

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http://dx.doi.org/10.1097/PRS.0000000000003371DOI Listing
June 2017

Association of mutations in FLNA with craniosynostosis.

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519681PMC
December 2015

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:

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

Response.

J Neurosurg Pediatr 2015 Sep;16(3):348-9

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September 2015

Response.

J Neurosurg Pediatr 2015 Sep;16(3):352-5

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September 2015

An Effective and Novel Technique for Hair Control in Craniofacial Surgery.

Plast Reconstr Surg 2015 Aug;136(2):285e-286e

Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/PRS.0000000000001440DOI Listing
August 2015

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

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.3304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601524PMC
July 2015

The incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis following primary surgery.

J Neurosurg Pediatr 2015 Apr 10;15(4):350-60. Epub 2015 Jan 10.

Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, Oxford;

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http://dx.doi.org/10.3171/2014.11.PEDS1426DOI Listing
April 2015

Long-term morphological outcomes in nonsyndromic sagittal craniosynostosis: a comparison of 2 techniques.

J Craniofac Surg 2015 Jan;26(1):19-25

From the Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, Headley Way, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/SCS.0000000000001107DOI Listing
January 2015

The preoperative incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis is underestimated in the literature.

J Neurosurg Pediatr 2014 Dec 26;14(6):674-81. Epub 2014 Sep 26.

Oxford Craniofacial Unit, Oxford University Hospitals National Health Service Trust, Oxford, United Kingdom.

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http://dx.doi.org/10.3171/2014.8.PEDS1425DOI Listing
December 2014

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.

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

The aesthetic outcome of surgical correction for sagittal synostosis can be reliably scored by a novel method of preoperative and postoperative visual assessment.

Plast Reconstr Surg 2014 Nov;134(5):775e-786e

Oxford and Southampton, United Kingdom From the Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust; the Oxford National Institute for Health and Research Musculoskeletal Biomedical Research Unit, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford; and the MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton General Hospital.

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http://dx.doi.org/10.1097/PRS.0000000000000633DOI Listing
November 2014

A novel technique to secure the Rigid External Distraction (RED) frame in a thin skull allowing sutural mid-face distraction.

J Craniomaxillofac Surg 2014 Oct 15;42(7):1048-51. Epub 2014 Jan 15.

Oxford Craniofacial Unit (Head: Mr. Steven Wall), Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jcms.2014.01.027DOI Listing
October 2014

A novel use of the rigid external distraction frame: acute on-table distraction with autologous bone grafting.

J Craniofac Surg 2014 Sep;25(5):1843-5

From the *Oxford Craniofacial Unit and †Department of Oral Maxillofacial Surgery, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.

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http://pdfs.journals.lww.com/jcraniofacialsurgery/2014/09000
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/SCS.0000000000001117DOI Listing
September 2014

Lessons learned in posterior cranial vault distraction.

J Craniofac Surg 2014 Sep;25(5):1721-7

From the Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, Oxford, UK.

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http://dx.doi.org/10.1097/SCS.0000000000000995DOI Listing
September 2014

The relationship between scaphocephaly at the skull vault and skull base in sagittal synostosis.

J Craniomaxillofac Surg 2014 Apr 22;42(3):245-9. Epub 2013 Jun 22.

Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.

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http://dx.doi.org/10.1016/j.jcms.2013.05.009DOI Listing
April 2014

Lessons in the management of post-operative tension pneumocephalus complicating transcranial resection of advanced cutaneous tumours with free flap reconstruction.

J Craniomaxillofac Surg 2013 Dec 26;41(8):850-5. Epub 2013 Feb 26.

Oxford Craniofacial Unit (Head: Mr. Steven A. Wall), West Wing, Oxford University Hospitals NHS Trust, Headington, Oxford OX3 9DU, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jcms.2013.01.042DOI Listing
December 2013

Parental allografts in the management of Adams-Oliver syndrome.

Childs Nerv Syst 2013 Aug 6;29(8):1223-4. Epub 2013 Jun 6.

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http://dx.doi.org/10.1007/s00381-013-2174-9DOI Listing
August 2013

Posterior calvarial distraction in craniosynostosis - an evolving technique.

J Craniomaxillofac Surg 2012 Dec 4;40(8):799-806. Epub 2012 May 4.

Oxford Craniofacial Unit, John Radcliffe Hospital, Headington, Oxford OX3 9DU, United Kingdom.

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http://dx.doi.org/10.1016/j.jcms.2012.02.018DOI Listing
December 2012

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

BMC Med Genet 2012 Nov 9;13:104. Epub 2012 Nov 9.

Oxford Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK.

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http://dx.doi.org/10.1186/1471-2350-13-104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3532175PMC
November 2012

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

Cleft Palate Craniofac J 2012 May 25;49(3):373-7. Epub 2011 Nov 25.

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

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http://dx.doi.org/10.1597/11-185DOI Listing
May 2012

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

J Med Genet 2010 Dec 15;47(12):803-8. Epub 2009 Sep 15.

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

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http://dx.doi.org/10.1136/jmg.2009.069617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991042PMC
December 2010

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.

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

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.

Am J Med Genet A 2010 Jun;152A(6):1383-9

Department of Clinical Genetics, The Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.33435DOI Listing
June 2010

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Plast Reconstr Surg 2009 Jun;123(6):1801-10

Oxford Craniofacial Unit and the Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/PRS.0b013e3181a3f391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2719244PMC
June 2009

Reconstruction of a congenital nasal deformity using skin tags as a chondrocutaneous composite graft.

J Craniofac Surg 2009 Mar;20(2):573-5

Oxford Craniofacial Unit, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/SCS.0b013e31819ba523DOI Listing
March 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.

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

Implications of a vertex bulge following modified strip craniectomy for sagittal synostosis.

Plast Reconstr Surg 2008 Jul;122(1):217-24

Oxford Craniofacial Unit and the Department of Plastic and Reconstructive Surgery, West Wing, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/PRS.0b013e3181774240DOI Listing
July 2008

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2007 Aug;143A(16):1941-9

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

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http://dx.doi.org/10.1002/ajmg.a.31905DOI Listing
August 2007

A paramedian cleft of the lower lip.

J Craniofac Surg 2007 May;18(3):704-6

Craniofacial Unit, John Radcliffe Hospital, Woodstock Road, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/scs.0b013e318052e2ceDOI Listing
May 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2006 Dec;140(23):2631-9

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

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http://dx.doi.org/10.1002/ajmg.a.31366DOI Listing
December 2006

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Hum Mol Genet 2006 Apr 15;15(8):1319-28. Epub 2006 Mar 15.

Department of Biochemistry and Molecular Biology, Norris Cancer Hospital, University of Southern Califoirnia Keck School of Medicine, 1441 Eastlake Avenue, Los Angeles, CA 90089-0176, USA.

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http://dx.doi.org/10.1093/hmg/ddl052DOI Listing
April 2006

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Cleft Palate Craniofac J 2006 Mar;43(2):148-51

Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, Sala 200 CEP 05508-900 São Paulo, SP, Brazil.

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http://dx.doi.org/10.1597/04-206.1DOI Listing
March 2006

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link.

J Pathol 2005 Sep;207(1):27-31

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

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http://dx.doi.org/10.1002/path.1816DOI Listing
September 2005

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.

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

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.

J Craniofac Surg 2005 May;16(3):347-52; discussion 353-4

Oxford Craniofacial Unit, Radcliffe Infirmary, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/01.scs.0000157024.56055.f2DOI Listing
May 2005

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.

Proc Natl Acad Sci U S A 2005 Apr 19;102(17):6051-6. Epub 2005 Apr 19.

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

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http://dx.doi.org/10.1073/pnas.0500267102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1087921PMC
April 2005

Monozygotic twins discordant for frontonasal malformation.

Am J Med Genet A 2004 Nov;130A(4):384-8

Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.30280DOI Listing
November 2004

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Hum Genet 2004 Aug 7;115(3):200-7. Epub 2004 Jul 7.

NDCLS, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe, Headington, Oxford, UK.

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http://dx.doi.org/10.1007/s00439-004-1151-5DOI Listing
August 2004

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.

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