Isabel M. Hanson

Institute of Genetics and Cancer — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

36h-index8.7kcitations59works0.02yr avg
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Research Topics

Developmental Biology and Gene Regulation(27), Retinal Development and Disorders(8), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(8), Renal and related cancers(8), Connexins and lens biology(7)

Publications59 total

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Genetics in Medicine·2019· 63 citedOpen Access
Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
PLoS ONE·2016· 83 citedOpen Access
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
European Journal of Medical Genetics·2014· 25 citedOpen Access
Aniridia
European Journal of Human Genetics·2012· 241 citedOpen Access
The Imaging and Cognition Genetics Conference 2011, ICG 2011: A Meeting of Minds
Frontiers in Neuroscience·2012Open Access
Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters (Reprinted from Nature, vol 348, pg 741-744, 1990)
UCL Discovery (University College London)·2008
Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters. 1990.
PubMed·2008
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia
European Journal of Human Genetics·2007· 37 citedOpen Access
A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11
BMC Genetics·2005· 20 citedOpen Access
PAX6 mutations: genotype-phenotype correlations
BMC Genetics·2005· 213 citedOpen Access
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
The American Journal of Human Genetics·2005· 309 citedOpen Access
Expression analysis of SIX3 and SIX6 in human tissues reveals differences in expression and a novel correlation between the expression of SIX3 and the genes encoding isocitrate dehyhrogenase and cadherin 18
Genomics·2005· 25 cited
Absence of<i>SIX6</i>Mutations in Microphthalmia, Anophthalmia, and Coloboma
Investigative Ophthalmology & Visual Science·2004· 34 cited
Cognitive functioning in humans with mutations of the <i>PAX6</i> gene
Neurology·2004· 36 cited
PAX6 and Congenital Eye Malformations
Pediatric Research·2003· 74 citedOpen Access
A novel PAX6 gene mutation in an Indian aniridia patient.
PubMed·2003· 17 cited
Polymicrogyria and absence of pineal gland due to <i>PAX6</i> mutation
Annals of Neurology·2003· 163 cited
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of thePAX6 gene
Human Mutation·2002· 34 citedOpen Access
Analysis of patients with various anterior segment disorders for mutations in PITX2, PITX3, FOXE3 and VSX1 genes
Queensland's institutional digital repository (The University of Queensland)·2002
Mammalian homologues of the Drosophila eye specification genes
Seminars in Cell and Developmental Biology·2001· 107 cited
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Frequent Co-authors

Veronica van Heyningen(28), John Trowsdale(7), Kathleen A. Williamson(7), David Fitzpatrick(6), Tim Jordan(5), Anne Seawright(5), Sanjay M. Sisodiya(5), Judy Fletcher(4), Judy Fantes(4), A Churchill(4), Richard A Axton(4), Robert E. Hill(3), Jane Prosser(3), Nicholas D. Hastie(3), Alison Brown(3), Birgit Lorenz(3), Michael W. Clarke(3), S. L. Free(3), Tejal N. Mitchell(3), Wendy A. Bickmore(3)