Kathleen A Williamson

Kathleen A Williamson

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Kathleen A Williamson

Kathleen A Williamson

Publications by authors named "Kathleen A Williamson"

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The genetic architecture of aniridia and Gillespie syndrome.

Hum Genet 2019 Sep 22;138(8-9):881-898. Epub 2018 Sep 22.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1007/s00439-018-1934-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710220PMC
September 2019

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Am J Med Genet A 2016 Nov 18;170(11):3048-3050. Epub 2016 Jul 18.

Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.37849DOI Listing
November 2016

The genetic architecture of microphthalmia, anophthalmia and coloboma.

Eur J Med Genet 2014 Aug 22;57(8):369-80. Epub 2014 May 22.

Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.05.002DOI Listing
August 2014

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Am J Hum Genet 2014 Feb 23;94(2):295-302. Epub 2014 Jan 23.

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928658PMC
February 2014

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Invest Ophthalmol Vis Sci 2009 Jun 14;50(6):2581-90. Epub 2009 Feb 14.

Moorfields Eye Hospital, London, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.08-2827DOI Listing
June 2009

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Am J Med Genet A 2008 Mar;146A(5):558-69

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1002/ajmg.a.32209DOI Listing
March 2008

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.

Arch Pediatr Adolesc Med 2007 May;161(5):463-9

Academic Unit of Audiological Medicine, Institute of Child Health, Department of Clinical and Experimental Epilepsy, and Division of Inherited Eye Disease, and Moorfields Eye Hospital, University College London, UK.

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http://dx.doi.org/10.1001/archpedi.161.5.463DOI Listing
May 2007

Role of SOX2 mutations in human hippocampal malformations and epilepsy.

Epilepsia 2006 Mar;47(3):534-42

Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, and National Society for Epilepsy, Bucks SL90RJ, London, UK.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00464.xDOI Listing
March 2006

Quantitative MR image analysis in subjects with defects in the PAX6 gene.

Neuroimage 2003 Dec;20(4):2281-90

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WCIN 3BG, UK.

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December 2003

Polymicrogyria and absence of pineal gland due to PAX6 mutation.

Ann Neurol 2003 May;53(5):658-63

Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London.

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http://dx.doi.org/10.1002/ana.10576DOI Listing
May 2003

PAX6 in sensory development.

Hum Mol Genet 2002 May;11(10):1161-7

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1093/hmg/11.10.1161DOI Listing
May 2002