Stephanie Halford

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

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

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

  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.

  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.

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

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

  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.

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

• Isoforms of Melanopsin Mediate Different Behavioral Responses to Light.

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

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

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

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

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

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

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

• Author reply: To PMID 24480711.

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

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

  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

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

• Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

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

• Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy

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

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

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

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

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

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

  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.

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

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

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

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

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

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

  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.

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

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

  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

  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).

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

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

  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.

  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.

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

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

  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.

  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.

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

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

  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.

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

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

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

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

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

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

  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.

  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).

  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

  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.

  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

  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.

  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.

  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.

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

• Molecular basis of cone dystrophy associated with protanopia.

  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.

  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.

  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.

  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.

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

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

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

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

  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.

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

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

  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.

  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.

  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.

  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.

  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.

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

• CATCH-22 - CAN MOLECULAR GENETICS EXPLAIN THE PHENOTYPE

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

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

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

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

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

• 22Q11 - PHYSICAL, COMPARATIVE AND DISEASE LOCUS MAPPING

  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.

  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).

  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.

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

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

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

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

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

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

  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.

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

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

  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.

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

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

  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.

  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.

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

Key Publications

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

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

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

  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.

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

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

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

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

  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.

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

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

  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.

  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.

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

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

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