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Author Details

Kathleen A Williamson
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
1993
52
33
PMIDPaper TitleJournal TitlePublished Year
38050128Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.J Med Genet2024
36997679Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.Eur J Hum Genet2023
37106145Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.Eur J Hum Genet2023
32034419Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.J Clin Endocrinol Metab2020
30842225<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia.J Med Genet2019
30242502The genetic architecture of aniridia and Gillespie syndrome.Hum Genet2019
30249237Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.BMC Pediatr2018
28067909SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Nat Genet2017
28493397A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.Hum Mutat2017
28546579Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Nat Genet2017
27108798A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Am J Hum Genet2016
27124303Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.PLoS One2016
27427475Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.Am J Med Genet A2016
26908622A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.Hum Mol Genet2016
24462371Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.Am J Hum Genet2014
25125236Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.J Med Genet2014
24859618The genetic architecture of microphthalmia, anophthalmia and coloboma.Eur J Med Genet2014
24906020Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.Am J Hum Genet2014
24874986Expansion of ocular phenotypic features associated with mutations in ADAMTS18.JAMA Ophthalmol2014
24403048Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Hum Mol Genet2014
24498598Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.Mol Genet Genomic Med2013
19218613Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.Invest Ophthalmol Vis Sci2009
19956411A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.Mol Vis2009
20054790Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.Folia Neuropathol2009
18241071Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.Am J Med Genet A2008
17031679De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.J Mol Med (Berl)2007
17896318PAX6 mutations may be associated with high myopia.Ophthalmic Genet2007
17406642Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.Eur J Hum Genet2007
17485622Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.Arch Pediatr Adolesc Med2007
16543359Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.Hum Mol Genet2006
16712695Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.Clin Genet2006
16470798Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.Am J Med Genet A2006
16529618Role of SOX2 mutations in human hippocampal malformations and epilepsy.Epilepsia2006
15846561Heterozygous mutations of OTX2 cause severe ocular malformations.Am J Hum Genet2005
15812812SOX2 anophthalmia syndrome.Am J Med Genet A2005
15079031Cognitive functioning in humans with mutations of the PAX6 gene.Neurology2004
15505031Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.Invest Ophthalmol Vis Sci2004
12731001Polymicrogyria and absence of pineal gland due to PAX6 mutation.Ann Neurol2003
12915443Identification of SATB2 as the cleft palate gene on 2q32-q33.Hum Mol Genet2003
14683729Quantitative MR image analysis in subjects with defects in the PAX6 gene.Neuroimage2003
12612584Mutations in SOX2 cause anophthalmia.Nat Genet2003
11826019National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.J Med Genet2002
12015275PAX6 in sensory development.Hum Mol Genet2002
11553050PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.Clin Genet2001
11431688PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.Nat Genet2001
11045393Hemolytic uremic syndrome associated with Denys-Drash syndrome.Pediatr Nephrol2000
9425891Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour.Nat Genet1998
7535092Expression of the Wilms' tumor gene WT1 in human malignant mesothelioma cell lines and relationship to platelet-derived growth factor A and insulin-like growth factor 2 expression.Genes Chromosomes Cancer1995
7789978A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.Genomics1995
7794729Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy?Pediatr Nephrol1995
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Collaborators

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Co-authored papers 28
UCL Institute of Neurology
Co-authored papers 10
UCL Institute of Ophthalmology, University College London
Co-authored papers 10
Western General Hospital
Co-authored papers 8
Oxford Brookes University
Co-authored papers 8
University College Dublin
Co-authored papers 5
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Institute of Human Development, University of Manchester
Co-authored papers 4
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Co-authored papers 3
Cardiovascular Health Research Unit, University of Washington
Co-authored papers 3
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2Clinical Research Branch, National Institute of Environmental Health Sciences
Co-authored papers 3
Belfast City Hospital
Co-authored papers 3
MassGeneral Hospital for Children
Co-authored papers 3
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 3
Wellcome Sanger Institute
Co-authored papers 2
Broad Institute of MIT and Harvard
Co-authored papers 2
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Institute of Ophthalmology, University College London
Co-authored papers 2
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University of Southampton
Co-authored papers 2
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 2
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Institute of Genetics and Molecular Medicine, University of Edinburgh
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Cambridge University Hospitals NHS Foundation Trust
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Northwestern University
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