Publications by authors named "Peter Turnpenny"

87Publications

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

Am J Med Genet A 2020 08 31;182(8):1939-1943. Epub 2020 May 31.

Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.

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http://dx.doi.org/10.1002/ajmg.a.61628DOI Listing
August 2020

Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.

Am J Med Genet A 2020 03 12;182(3):553-556. Epub 2019 Dec 12.

Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

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http://dx.doi.org/10.1002/ajmg.a.61449DOI Listing
March 2020

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:

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

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:

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

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.

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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.

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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.

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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:

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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.

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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.

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

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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.

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

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.

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

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.

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

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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.

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

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

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

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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.

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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.

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http://www.nature.com/doifinder/10.1038/ejhg.2011.181
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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.

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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.

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

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.

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

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

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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 ;

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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.

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

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.

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

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.

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

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

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

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.

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

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http://dx.doi.org/10.1002/dvdy.21182DOI 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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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