Stephanie Halford

• Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

  Journal article

  Pontikos N. et al, (2017), Bioinformatics, 33, 2421 - 2423

• Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

  Journal article

  Broadgate S. et al, (2017), Prog Retin Eye Res, 59, 53 - 96

• Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

  Journal article

  Xu M. et al, (2017), Am J Hum Genet, 100, 592 - 604

• Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

  Journal article

  Arno G. et al, (2017), Am J Hum Genet, 100, 334 - 342

• Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

  Journal article

  Hull S. et al, (2016), JAMA Ophthalmol, 134, 992 - 1000

• Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy.

  Journal article

  Singh MS. et al, (2016), Sci Rep, 6

• Isoforms of Melanopsin Mediate Different Behavioral Responses to Light.

  Journal article

  Jagannath A. et al, (2015), Curr Biol, 25, 2430 - 2434

• Genotype-phenotype correlation of diabetic macular edema in type 2 diabetes

  Conference paper

  Kiire CA. et al, (2015), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 56

• The hypothalamic photoreceptors regulating seasonal reproduction in birds: a prime role for VA opsin.

  Journal article

  García-Fernández JM. et al, (2015), Front Neuroendocrinol, 37, 13 - 28

• Author reply: To PMID 24480711.

  Journal article

  Halford S. et al, (2015), Ophthalmology, 122

• Re: Halford et al.: Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy (Ophthalmology 2014;121:1174-84) reply

  Journal article

  Halford S. et al, (2015), OPHTHALMOLOGY, 122, E22 - E22

• Identification of rod- and cone-specific expression signatures to identify candidate genes for retinal disease.

  Journal article

  Holt R. et al, (2015), Exp Eye Res, 132, 161 - 173

• The hypothalamic photoreceptors regulating seasonal reproduction in birds: A prime role for VA opsin

  Journal article

  García-Fernández JM. et al, (2015), Frontiers in Neuroendocrinology, 37, 13 - 28

• Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

  Journal article

  Halford S. et al, (2014), Ophthalmology, 121, 1174 - 1184

• Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy

  Journal article

  Halford S. et al, (2014), Ophthalmology, 121, 1174 - 1184

• Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

  Journal article

  Halford S. et al, (2012), Arch Ophthalmol, 130, 1490 - 1492

• Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2).

  Journal article

  Mackay DS. and Halford S., (2012), Exp Eye Res, 102, 111 - 112

• Vertebrate ancient opsin photopigment spectra and the avian photoperiodic response.

  Journal article

  Davies WI. et al, (2012), Biol Lett, 8, 291 - 294

• Differential expression of melanopsin isoforms Opn4L and Opn4S during postnatal development of the mouse retina.

  Journal article

  Hughes S. et al, (2012), PLoS One, 7

• Functional diversity of melanopsins and their global expression in the teleost retina.

  Journal article

  Davies WI. et al, (2011), Cell Mol Life Sci, 68, 4115 - 4132

• Functional diversity of melanopsins and their global expression in the teleost retina

  Journal article

  Davies WIL. et al, (2011), Cellular and Molecular Life Sciences, 68, 4115 - 4132

• The evolution of irradiance detection: melanopsin and the non-visual opsins.

  Journal article

  Peirson SN. et al, (2009), Philos Trans R Soc Lond B Biol Sci, 364, 2849 - 2865

• Differential expression of two distinct functional isoforms of melanopsin (Opn4) in the mammalian retina.

  Journal article

  Pires SS. et al, (2009), J Neurosci, 29, 12332 - 12342

• VA opsin-based photoreceptors in the hypothalamus of birds.

  Journal article

  Halford S. et al, (2009), Curr Biol, 19, 1396 - 1402

• Inner retinal and extraretinal photoreceptor up-dates: Isolation and characterisation of VA opsin in Xenopus and the chicken

  Conference paper

  Foster R. et al, (2008), COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY A-MOLECULAR & INTEGRATIVE PHYSIOLOGY, 150, S148 - S148

• Isolation and characterization of melanopsin (Opn4) from the Australian marsupial Sminthopsis crassicaudata (fat-tailed dunnart).

  Journal article

  Pires SS. et al, (2007), Proc Biol Sci, 274, 2791 - 2799

• Novel mutations in the CYP4v2 gene associated with Bietti crystalline corneoretinal dystrophy

  Conference paper

  Halford S. et al, (2007), JOURNAL OF MEDICAL GENETICS, 44, S100 - S100

• Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples.

  Journal article

  Zeggini E. et al, (2005), Diabet Med, 22, 1696 - 1700

• Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes.

  Journal article

  Zeggini E. et al, (2005), Diabetologia, 48, 2013 - 2017

• Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2.

  Journal article

  Inglis-Broadgate SL. et al, (2005), Gene, 356, 19 - 31

• Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits.

  Journal article

  Powell BL. et al, (2005), J Clin Endocrinol Metab, 90, 2988 - 2993

• Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3.

  Journal article

  Ocaka L. et al, (2005), Cytogenet Genome Res, 108, 293 - 302

• Ocular coloboma: a reassessment in the age of molecular neuroscience.

  Journal article

  Gregory-Evans CY. et al, (2004), J Med Genet, 41, 881 - 891

• Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset.

  Journal article

  Zeggini E. et al, (2004), Diabetes, 53, 3319 - 3322

• 40(th) EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004.

  Conference paper

  Veitenhansl M. et al, (2004), Diabetologia, 47, A1 - A464

• Large-scale association studies of candidate genes and their interactions in Type 2 diabetes

  Conference paper

  Zeggini E. et al, (2004), DIABETOLOGIA, 47, A141 - A141

• Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone.

  Journal article

  Gaasenbeek M. et al, (2004), J Clin Endocrinol Metab, 89, 2408 - 2413

• Variation at the IRF2 gene and susceptibility to psoriasis in chromosome 4q-linked families.

  Journal article

  Parkinson J. et al, (2004), J Invest Dermatol, 122, 640 - 643

• Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

  Journal article

  Johnson S. et al, (2003), Genomics, 81, 304 - 314

• Large-scale association studies of variants in genes encoding the pancreatic β-cell K<inf>ATP</inf> channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

  Journal article

  Gloyn AL. et al, (2003), Diabetes, 52, 568 - 572

• Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on chromosome 20p13.

  Journal article

  Halford S. et al, (2002), Exp Eye Res, 75, 619 - 623

• Genomic structure and pattern of alternate splicing for RIM1. A candidate gene for CORD7

  Conference paper

  Hunt DM. et al, (2002), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 43, U180 - U180

• Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality.

  Journal article

  Roberts C. et al, (2002), Mol Cell Biol, 22, 2318 - 2328

• Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

  Journal article

  El-Ashry MF. et al, (2002), Invest Ophthalmol Vis Sci, 43, 377 - 382

• Characterization of genetically modified human retinal pigment epithelial cells developed for in vitro and transplantation studies.

  Journal article

  Kanuga N. et al, (2002), Invest Ophthalmol Vis Sci, 43, 546 - 555

• Molecular basis of cone dystrophy associated with protanopia.

  Conference paper

  Johnson S. et al, (2001), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 42, S640 - S640

• Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43.

  Journal article

  Halford S. et al, (2001), Genomics, 72, 203 - 208

• Assignment of panopsin (OPN3) to human chromosome band 1q43 by in situ hybridization and somatic cell hybrids.

  Journal article

  Halford S. et al, (2001), Cytogenet Cell Genet, 95, 234 - 235

• Assignment of BCL2L11 to human chromosome band 2p13 with somatic cell and radiation hybrids.

  Journal article

  Murray S. et al, (2001), Cytogenet Cell Genet, 92

• Characterization of the Human NMO-1 gene at 1q43 and genomic organisation of the region. NMO-1.

  Journal article

  Halford S. et al, (2000), AMERICAN JOURNAL OF HUMAN GENETICS, 67, 187 - 187

• Characterisation of murine CDP-diacyclglycerol synthase (CDS1 & CDS2) genes.

  Journal article

  Inglis SL. et al, (2000), AMERICAN JOURNAL OF HUMAN GENETICS, 67, 187 - 187

• Genetically engineered human retinal pigment epithelial cells for intraocular transplantation therapy.

  Journal article

  Winton HL. et al, (2000), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 41, S857 - S857

• Assignment of claudin-1 (CLDN1) to human chromosome 3q28-->q29 with somatic cell hybrids.

  Journal article

  Halford S. et al, (2000), Cytogenet Cell Genet, 88

• Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes.

  Journal article

  Halford S. et al, (1998), Genomics, 54, 140 - 144

• Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome.

  Journal article

  Sirotkin H. et al, (1997), Genomics, 41, 75 - 83

• Cloning and characterization of the human and mouse homologues of the Drosophila CDP-diacylglycerol synthase (eye-CDS) gene.

  Journal article

  Halford S. et al, (1997), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 38, 5278 - 5278

• Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome.

  Journal article

  Roberts C. et al, (1997), Hum Mol Genet, 6, 237 - 245

• Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.

  Journal article

  Sutherland HF. et al, (1996), Am J Hum Genet, 59, 23 - 31

• Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.

  Journal article

  Wadey R. et al, (1995), Hum Mol Genet, 4, 1027 - 1033

• A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.

  Journal article

  Halford S. et al, (1995), Genomics, 25, 322 - 323

• CATCH-22 - CAN MOLECULAR GENETICS EXPLAIN THE PHENOTYPE

  Chapter

  HALFORD S. et al, (1995), 577 - 580

• Mapping of the Tuple1 gene to mouse chromosome 16A-B1.

  Journal article

  Mattei MG. et al, (1994), Genomics, 23, 717 - 718

• 22Q11 - PHYSICAL, COMPARATIVE AND DISEASE LOCUS MAPPING

  Journal article

  HALFORD S. et al, (1994), CYTOGENETICS AND CELL GENETICS, 67, 292 - 292

• Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.

  Journal article

  Halford S. et al, (1993), Hum Mol Genet, 2, 2099 - 2107

• Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

  Journal article

  Wadey R. et al, (1993), J Med Genet, 30, 818 - 821

• Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.

  Journal article

  Halford S. et al, (1993), Hum Mol Genet, 2, 1577 - 1582

• Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

  Journal article

  Lindsay EA. et al, (1993), Genomics, 17, 403 - 407

• Haplotype analysis to determine the position of a mutation among closely linked DNA markers.

  Journal article

  Ramsay M. et al, (1993), Hum Mol Genet, 2, 1007 - 1014

• Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization.

  Journal article

  Desmaze C. et al, (1993), Hum Genet, 90, 663 - 665

• Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

  Journal article

  Halford S. et al, (1993), Hum Mol Genet, 2, 191 - 196

• Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

  Journal article

  Carey AH. et al, (1992), Am J Hum Genet, 51, 964 - 970

• Successful targeting of the mouse cystic fibrosis transmembrane conductance regulator gene in embryonal stem cells.

  Journal article

  Dorin JR. et al, (1992), Transgenic Res, 1, 101 - 105

• MOLECULAR STUDIES OF MONOSOMY-22Q11 AND ITS CLINICAL CONSEQUENCES

  Journal article

  SCAMBLER P. et al, (1991), AMERICAN JOURNAL OF HUMAN GENETICS, 49, 275 - 275

• Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

  Journal article

  Tata F. et al, (1991), Genomics, 10, 301 - 307

• A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis.

  Journal article

  Ramsay M. et al, (1990), Genomics, 6, 39 - 47

Key Publications

• Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2).

  Journal article

  Mackay DS. and Halford S., (2012), Exp Eye Res, 102, 111 - 112

• Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

  Journal article

  Halford S. et al, (2012), Arch Ophthalmol, 130, 1490 - 1492

• Differential expression of melanopsin isoforms Opn4L and Opn4S during postnatal development of the mouse retina.

  Journal article

  Hughes S. et al, (2012), PLoS One, 7

• Vertebrate ancient opsin photopigment spectra and the avian photoperiodic response.

  Journal article

  Davies WI. et al, (2012), Biol Lett, 8, 291 - 294

• Functional diversity of melanopsins and their global expression in the teleost retina.

  Journal article

  Davies WI. et al, (2011), Cell Mol Life Sci, 68, 4115 - 4132

Recent Publications

• Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

  Journal article

  Pontikos N. et al, (2017), Bioinformatics, 33, 2421 - 2423

• Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

  Journal article

  Broadgate S. et al, (2017), Prog Retin Eye Res, 59, 53 - 96

• Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

  Journal article

  Xu M. et al, (2017), Am J Hum Genet, 100, 592 - 604

• Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

  Journal article

  Arno G. et al, (2017), Am J Hum Genet, 100, 334 - 342

• Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

  Journal article

  Hull S. et al, (2016), JAMA Ophthalmol, 134, 992 - 1000