Emma Wakeling

Emma Wakeling

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Emma Wakeling

Emma Wakeling

Publications by authors named "Emma Wakeling"

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59Publications

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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.

J Med Genet 2020 Feb 13. Epub 2020 Feb 13.

Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK

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http://dx.doi.org/10.1136/jmedgenet-2019-106561DOI Listing
February 2020

Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism.

J Clin Endocrinol Metab 2020 Feb 15. Epub 2020 Feb 15.

Helsinki University Hospital, New Children's Hospital, Pediatric Research Center, Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1210/clinem/dgaa078DOI Listing
February 2020

A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype.

Clin Dysmorphol 2019 Oct 30. Epub 2019 Oct 30.

North West Thames Regional Genetic Service, London North West University Healthcare NHS Trust, Harrow.

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http://dx.doi.org/10.1097/MCD.0000000000000306DOI Listing
October 2019

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Eur J Hum Genet 2018 09 11;26(9):1288-1293. Epub 2018 Jun 11.

North West Thames Regional Genetic Service, London North West Hospitals NHS Trust, Harrow, Middlesex, HA1 3UJ, UK.

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http://dx.doi.org/10.1038/s41431-018-0166-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117264PMC
September 2018

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.

Am J Med Genet A 2018 05;176(5):1238-1244

Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.38683DOI Listing
May 2018

Complexity of the 5' Untranslated Region of , a Critical Factor for Craniofacial and Neural Development.

Front Genet 2018 25;9:149. Epub 2018 Apr 25.

Centro de Estudos do Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.3389/fgene.2018.00149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996909PMC
April 2018

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

Clin Dysmorphol 2017 Jan;26(1):50-57

aInstitute of Child Health, University College London bNorth West Thames Regional Genetics Service, London cEhlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, UK dMaritime Medical Genetics Service, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1097/MCD.0000000000000138DOI Listing
January 2017

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

Hum Genet 2016 08 31;135(8):919-921. Epub 2016 May 31.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1007/s00439-016-1689-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955754PMC
August 2016

CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

Brain 2016 Apr 25;139(Pt 4):1036-44. Epub 2016 Feb 25.

Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK

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http://dx.doi.org/10.1093/brain/aww014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806221PMC
April 2016

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

Am J Med Genet A 2015 Dec 6;167A(12):3103-7. Epub 2015 Aug 6.

North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK.

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http://dx.doi.org/10.1002/ajmg.a.37282DOI Listing
December 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Baseline and post prophylactic tubal-ovarian surgery CA125 levels in BRCA1 and BRCA2 mutation carriers.

Fam Cancer 2014 Jun;13(2):197-203

North-West Thames Regional Genetics Service (Kennedy-Galton Centre), Level 8V, North West London Hospitals NHS Trust, Watford Rd, Harrow, HA1 3UJ, UK.

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http://dx.doi.org/10.1007/s10689-013-9697-9DOI Listing
June 2014

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Am J Med Genet A 2014 Feb 5;164A(2):386-91. Epub 2013 Dec 5.

Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36285DOI Listing
February 2014

Froster syndrome: two further siblings with bilateral diaphragmatic hernia, asymmetric limb reduction defects, and exomphalos.

Clin Dysmorphol 2013 Apr;22(2):84-6

North West Thames Regional Genetics Service (Kennedy Galton Centre), North West London Hospitals NHS Trust, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283603310DOI Listing
April 2013

Silver-Russell syndrome.

Authors:
Emma L Wakeling

Arch Dis Child 2011 Dec 24;96(12):1156-61. Epub 2011 Feb 24.

North West Thames Regional Genetic Service (Kennedy-Galton Centre), Level 8V, North West London Hospitals NHS Trust, Watford Rd, Harrow, Middlesex, HA1 3UJ, UK.

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http://dx.doi.org/10.1136/adc.2010.190165DOI Listing
December 2011

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

J Dermatol Sci 2011 Dec 27;64(3):159-62. Epub 2011 Aug 27.

Dermatology Department, The Royal Free Hospital, Pond Street, London NW3 2QG, UK.

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http://dx.doi.org/10.1016/j.jdermsci.2011.07.006DOI Listing
December 2011

Epigenetic signatures of Silver-Russell syndrome.

J Med Genet 2010 Mar;47(3):150-4

Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1136/jmg.2009.071316DOI Listing
March 2010

A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.

Clin Dysmorphol 2010 Jan;19(1):23-7

North West London Regional Genetics Centre (Kennedy-Galton Centre), North West London Hospitals NHS Trust, Middlesex, HA1 3UJ, UK.

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https://insights.ovid.com/crossref?an=00019605-201001000-000
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http://dx.doi.org/10.1097/MCD.0b013e328334557eDOI Listing
January 2010

A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.

Am J Med Genet A 2009 Oct;149A(10):2075-9

North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust Harrow, Middlesex, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.32995DOI Listing
October 2009

Caudal appendage in focal dermal hypoplasia (Goltz syndrome).

Clin Dysmorphol 2008 Apr;17(2):129-31

Department of Clinical Genetics, Kennedy Galton Centre, Northwick Park & St Marks NHS Trust, Harrow, Middlesex, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32825ea65cDOI Listing
April 2008

Congenital microgastria in association with Pierre-Robin sequence.

Clin Dysmorphol 2008 Apr;17(2):143-4

Department of Clinical Genetics, Kennedy Galton Centre, Northwick Park and St Mark's NHS Trust, Harrow, Middlesex, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3282f0a2beDOI Listing
April 2008

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.

Clin Dysmorphol 2007 Jan;16(1):39-41

North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, Harrow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328010b81cDOI Listing
January 2007

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype.

Eur J Hum Genet 2006 Jun;14(6):739-43

Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Salisbury District Hospital, Salisbury, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201605DOI Listing
June 2006

Mild case of Curry-Jones syndrome.

Clin Dysmorphol 2006 Apr;15(2):115-7

Clinical Genetics, Kennedy-Galton Centre, NW Thames Regional Genetics Service, Harrow, UK.

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http://dx.doi.org/10.1097/01.mcd.0000194406.85052.deDOI Listing
April 2006

Central osteosclerosis with trichothiodystrophy.

Pediatr Radiol 2004 Jul 18;34(7):541-6. Epub 2004 May 18.

North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow HAI 3UJ, Middlesex, UK.

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http://dx.doi.org/10.1007/s00247-004-1207-7DOI Listing
July 2004

Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.

Clin Dysmorphol 2003 Apr;12(2):105-7

North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow, Middlesex HAl 3UJ, UK.

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http://dx.doi.org/10.1097/00019605-200304000-00006DOI Listing
April 2003

X-linked inheritance of Dandy-Walker variant.

Clin Dysmorphol 2002 Jan;11(1):15-8

Kennedy-Galton Centre, North West London Hospitals NHS Trust, Harrow, Middlesex, UK.

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http://dx.doi.org/10.1097/00019605-200201000-00003DOI Listing
January 2002