Peter Turnpenny

Peter Turnpenny

UNVERIFIED PROFILE

Are you Peter Turnpenny?   Register this Author

Register author
Peter Turnpenny

Peter Turnpenny

Publications by authors named "Peter Turnpenny"

Are you Peter Turnpenny?   Register this Author

81Publications

2346Reads

38Profile Views

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Eur J Med Genet 2019 Jan 23;62(1):27-34. Epub 2018 Apr 23.

West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.04.014DOI Listing
January 2019

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Am J Hum Genet 2018 07;103(1):100-114

IAS HKUST - Scripps R&D Laboratory, Institute for Advanced Study, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China; The Scripps Laboratories for tRNA Synthetase Research, The Scripps Research Institute, 10650 North Torrey Pines Road, La Jolla, CA 92037, USA; The Scripps Laboratories for tRNA Synthetase Research, Scripps Florida, 130 Scripps Way, Jupiter, FL 33458, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035289PMC
July 2018

A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation.

Eur J Med Genet 2017 Jul 10;60(7):403-409. Epub 2017 May 10.

Clinical Ethics and Law, Faculty of Medicine, University of Southampton, UK; ELSI Group, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.05.001DOI Listing
July 2017

De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.

Clin Dysmorphol 2017 Apr;26(2):95-97

Departments of aClinical GeneticsbMolecular Genetics, Royal Devon and Exeter NHS Foundation Trust, ExetercDepartment of Neonatology, Corniche Hospital, Abu Dhabi, United Arab Emirates.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000144DOI Listing
April 2017

Digesting GWAS.

Cell Mol Gastroenterol Hepatol 2016 Sep 28;2(5):542-543. Epub 2016 Jul 28.

University of Exeter Medical School, Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcmgh.2016.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042883PMC
September 2016

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Kidney Int 2016 07 24;90(1):203-11. Epub 2016 May 24.

University of Exeter Medical School, Exeter, UK; Exeter Kidney Unit, Royal Devon and Exeter National Health Service Foundation Trust, Exeter, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2016.03.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915913PMC
July 2016

Families dealing with the uncertainty of genetic disorders: the case of Neurofibromatosis Type 1.

Sociol Health Illn 2016 06 11;38(5):753-67. Epub 2016 Feb 11.

Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1467-9566.12401DOI Listing
June 2016

Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31).

Clin Dysmorphol 2015 Jul;24(3):132-4

aPeninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter bPaediatric Cardiology Department, Oxford University Hospitals NHS Trust, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000082DOI Listing
July 2015

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

Eur J Hum Genet 2015 Mar 25;23(3):401-4. Epub 2014 Jun 25.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2014120
Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205099PMC
March 2015

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

J Med Genet 2014 Dec 23;51(12):806-13. Epub 2014 Oct 23.

Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2014-102798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251168PMC
December 2014

Factors determining penetrance in familial atypical haemolytic uraemic syndrome.

J Med Genet 2014 Nov 26;51(11):756-64. Epub 2014 Sep 26.

Peninsula Clinical Genetics Service, Royal Devon & Exeter NHS Foundation Trust, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK University of Exeter Medical School, University of Exeter, Exeter, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2014-102498DOI Listing
November 2014

From the Ottomans to the present day: 150 years of Scottish medical charity in the Holy Land.

BMJ 2013 Dec 12;347:f6994. Epub 2013 Dec 12.

Royal Devon and Exeter Hospital, Exeter EX1 2ED, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmj.f6994DOI Listing
December 2013

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Eur J Hum Genet 2013 Oct 30;21(10):1085-92. Epub 2013 Jan 30.

1] Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden [2] Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden [3] Department of Hand Surgery, Södersjukhuset, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2012306
Publisher Site
http://dx.doi.org/10.1038/ejhg.2012.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778344PMC
October 2013

Neuropsychiatric disease in patients with periventricular heterotopia.

J Neuropsychiatry Clin Neurosci 2013 ;25(1):26-31

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1176/appi.neuropsych.11110336DOI Listing
September 2013

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.

Am J Med Genet A 2013 Sep 29;161A(9):2244-9. Epub 2013 Jul 29.

Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36073DOI Listing
September 2013

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

Am J Med Genet A 2013 Aug 27;161A(8):2027-9. Epub 2013 Jun 27.

Department of Clinical Genetics, Royal Devon and Exeter NHS Trust, Exeter, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36005DOI Listing
August 2013

Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?

Am J Med Genet A 2012 Dec 19;158A(12):3065-70. Epub 2012 Nov 19.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35607DOI Listing
December 2012

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Am J Med Genet A 2012 May 11;158A(5):1102-10. Epub 2012 Apr 11.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495255PMC
May 2012

Alagille syndrome: pathogenesis, diagnosis and management.

Eur J Hum Genet 2012 Mar 21;20(3):251-7. Epub 2011 Sep 21.

Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1038/ejhg.2011.181
Publisher Site
http://dx.doi.org/10.1038/ejhg.2011.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283172PMC
March 2012

Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.

Clin Dysmorphol 2011 Oct;20(4):175-81

Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, Northern Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e328349182dDOI Listing
October 2011

Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome).

Pediatr Radiol 2011 Mar 22;41(3):384-8. Epub 2010 Dec 22.

Department of Radiology, Columbia University College of Physicians and Surgeons, Morgan Stanley Children's Hospital of New York-Presbyterian, New York, NY, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s00247-010-1928
Web Search
http://link.springer.com/10.1007/s00247-010-1928-8
Publisher Site
http://dx.doi.org/10.1007/s00247-010-1928-8DOI Listing
March 2011

Defective somitogenesis and abnormal vertebral segmentation in man.

Adv Exp Med Biol 2008 ;638:164-89

Clinical Genetics Department, Royal Devon & Exeter Hospital, Gladstone Road, Exeter EX1 2ED, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-0-387-09606-3_9DOI Listing
December 2010

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Eur J Hum Genet 2010 Jun 20;18(6):674-9. Epub 2010 Jan 20.

] Developmental Biology Division, Victor Chang Cardiac Research Institute, Sydney, Australia.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg2009241
Publisher Site
http://dx.doi.org/10.1038/ejhg.2009.241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987349PMC
June 2010

Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.

Am J Med Genet A 2010 Jun;152A(6):1357-71

Department of Radiology, Great Ormond Hospital for Children, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33361DOI Listing
June 2010

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).

Hum Mutat 2010 Jan;31(1):E1089-101

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21170DOI Listing
January 2010

Molecular diagnosis of vertebral segmentation disorders in humans.

Expert Opin Med Diagn 2008 Oct;2(10):1107-21

Marshfield Clinic, Department of Genetic Services, 1000 N. Oak Avenue, Marshfield, WI 54449, USA +1 715 221 7410 ; +1 715 389 4399 ;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1517/17530059.2.10.1107DOI Listing
October 2008

Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype.

Clin Dysmorphol 2008 Jul;17(3):189-91

Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e3282f4a984DOI Listing
July 2008

Infantile high myopia in Bohring-Opitz syndrome.

J AAPOS 2007 Oct 10;11(5):524-5. Epub 2007 May 10.

The Peninsula Medical School, Universities of Exeter and Plymouth, Exeter, Devon, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaapos.2007.03.003DOI Listing
October 2007

Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRR.

Am J Med Genet A 2007 Oct;143A(19):2303-11

Department of Medical Genetics, Clinical Genetics Centre, University of Aberdeen, Aberdeen, Scotland, United Kingdom.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31914
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31914DOI Listing
October 2007

A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance.

Clin Dysmorphol 2007 Jul;16(3):157-61

Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics, G D'Annunzio University, Chieti, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32819382b8DOI Listing
July 2007

Abnormal vertebral segmentation and the notch signaling pathway in man.

Dev Dyn 2007 Jun;236(6):1456-74

Clinical Genetics, Royal Devon & Exeter Hospital, and Peninsula Medical School, Exeter, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvdy.21182DOI Listing
June 2007

Disruption of the somitic molecular clock causes abnormal vertebral segmentation.

Birth Defects Res C Embryo Today 2007 Jun;81(2):93-110

Developmental Biology Program, Victor Chang Cardiac Research Institute, Sydney, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdrc.20093DOI Listing
June 2007

Formation errors of the vertebral column.

J Bone Joint Surg Am 2007 Feb;89 Suppl 1:64-71

School of Life Sciences, Arizona State University, P.O. Box 874501, Tempe, AZ 85287-4501, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2106/JBJS.F.00486DOI Listing
February 2007

Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management.

Thyroid 2006 Jun;16(6):605-8

Department of Endocrinology, Royal Devon & Exeter Hospital NHS Foundation Trust, Exeter, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/thy.2006.16.605DOI Listing
June 2006

Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis.

J Pediatr Orthop 2004 Nov-Dec;24(6):674-82

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4318, USA.

View Article

Download full-text PDF

Source
June 2005

Mutated MESP2 causes spondylocostal dysostosis in humans.

Am J Hum Genet 2004 Jun 30;74(6):1249-54. Epub 2004 Apr 30.

Institute of Biomedical and Clinical Science, Royal Devon & Exeter Hospital, Exeter EX2 5DW, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/421053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182088PMC
June 2004

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.

Am J Med Genet A 2003 Dec;123A(2):153-63

Department of Clinical Genetics, 7th Floor, New Guy's House, Guy's Hospital, St. Thomas Street, London SE1 9RT, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20220DOI Listing
December 2003

Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis.

Prenat Diagn 2003 Jul;23(7):575-9

Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.643DOI Listing
July 2003

Of eponyms, acronyms and...orthonyms.

Nat Rev Genet 2003 02;4(2):152-6

Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrg997DOI Listing
February 2003

Okihiro syndrome is caused by SALL4 mutations.

Hum Mol Genet 2002 Nov;11(23):2979-87

Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/11.23.2979DOI Listing
November 2002

Ophthalmic findings in fetal anticonvulsant syndrome(s).

Ophthalmology 2002 May;109(5):942-7

West of England Eye Unit, Royal Devon & Exeter Hospital, Exeter, UK England.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0161-6420(02)00959-4DOI Listing
May 2002