Publications by authors named "Susan Holder"

30Publications

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Arch Dis Child 2020 04 3;105(4):384-389. Epub 2019 Sep 3.

Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/archdischild-2018-316547DOI Listing
April 2020

The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 07 14;96(1):72-84. Epub 2019 May 14.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
July 2019

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Am J Hum Genet 2019 02 17;104(2):246-259. Epub 2019 Jan 17.

Department of Surgery/Division of Orthopaedic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369454PMC
February 2019

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

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

Chitayat-Hall syndrome: extending the clinical phenotype.

Clin Dysmorphol 2013 Oct;22(4):156-60

Departments of aPaediatric Neurology bGeneral Paediatrics cPaediatric Neuroradiology dNeonatal Medicine, Chelsea and Westminster Hospital, London eNorth West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, UK.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000006DOI Listing
October 2013

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

Interstitial 3p25 deletion in a patient with features of 3p deletion syndrome: further evidence for the role of SRGAP3 in mental retardation.

Clin Dysmorphol 2014 Jan;23(1):29-31

North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Northwick Park & St Marks Hospital, Harrow, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000017DOI Listing
January 2014

A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign.

Rheumatology (Oxford) 2014 Mar 25;53(3):574-6. Epub 2013 Aug 25.

Kennedy Institute of Rheumatology, 65 Aspenlea Road, London W6 8LH, UK.

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http://dx.doi.org/10.1093/rheumatology/ket138DOI Listing
March 2014

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.

Am J Med Genet A 2012 Jan 21;158A(1):215-9. Epub 2011 Nov 21.

Department of Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34376DOI Listing
January 2012

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Hum Mutat 2011 Oct 8;32(10):1144-52. Epub 2011 Sep 8.

Ulverscroft Vision Research Group, UCL Institute of Child Health, London, United Kingdom.

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http://doi.wiley.com/10.1002/humu.21550
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http://dx.doi.org/10.1002/humu.21550DOI Listing
October 2011

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.

Am J Med Genet A 2011 May 4;155A(5):1192-5. Epub 2011 Apr 4.

Department of Genomics of Common Disease, Imperial College London, Hammersmith Hospital Campus, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33986
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http://dx.doi.org/10.1002/ajmg.a.33986DOI Listing
May 2011

Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.

Clin Dysmorphol 2008 Oct;17(4):279-81

Kennedy-Galton Centre, North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust, Middlesex, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283136948DOI Listing
October 2008

De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.

Hum Genet 2005 Jun 15;117(1):1-8. Epub 2005 Apr 15.

Institute for Human Genetics, Johannes Gutenberg University Mainz, Germany.

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http://dx.doi.org/10.1007/s00439-005-1273-4DOI Listing
June 2005

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