S. Halford

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Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

M. McCarthy, J. Levy, T. Frayling, 2003, Diabetes.

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

J. C. Levy, M. I. McCarthy, M. McCarthy, 2005, Diabetologia.

Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy

S. Halford, V. Chong, C. Kiire, 2018, Acta ophthalmologica.

Adjuvant mitozantrone chemotherapy in advanced prostate cancer

S. Halford, R. Roylance, J. Waxman, 2000, BJU international.

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

M. McCarthy, E. Zeggini, J. Levy, 2004, Diabetes.

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

M. McCarthy, M. Gaasenbeek, C. Groves, 2004, The Journal of clinical endocrinology and metabolism.

Differential Expression of Two Distinct Functional Isoforms of Melanopsin (Opn4) in the Mammalian Retina

S. Halford, S. Peirson, R. Foster, 2009, The Journal of Neuroscience.

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

M. Gaasenbeek, R. Banerjee, D. Hunt, 2005, Gene.

Genetics of the Retinal Dystrophies

S. Halford, S. Sekaran, S. S. Merepa, 2018, eLS.

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

S. Halford, P. Clouston, R. MacLaren, 2022, Genes.

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

D. Hunt, S. Halford, R. Foster, 2001, Genomics.

Isoforms of Melanopsin Mediate Different Behavioral Responses to Light

M. Wood, L. Brown, S. Halford, 2015, Current Biology.

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

S. Halford, F. Raymond, K. Carss, 2018, Molecular vision.

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

K. Dulai, D. Hunt, J. Fitzgibbon, 1998, Genomics.

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

R. Holt, S. Halford, R. MacLaren, 2016, Scientific Reports.

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

J. Dumanski, S. Halford, J. Goodship, 1992, American journal of human genetics.

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

S. Halford, P. Clouston, S. Downes, 2021, BMC Ophthalmology.

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

R. Holt, E. Volpi, G. Holder, 2014, Ophthalmology.

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

S. Halford, S. Peirson, R. Foster, 2015, Frontiers in Neuroendocrinology.

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

S. Halford, S. Peirson, R. Foster, 2009, Philosophical Transactions of the Royal Society B: Biological Sciences.

Differential Expression of Melanopsin Isoforms Opn4L and Opn4S during Postnatal Development of the Mouse Retina

S. Halford, S. Peirson, R. Foster, 2012, PloS one.

Targeted deletion of an NRL‐ and CRX‐regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors

A. Swaroop, S. Halford, Lijin Dong, 2018, Human molecular genetics.

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

S. Halford, R. Foster, T. Tamai, 2011, Cellular and Molecular Life Sciences.

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

S. Tuft, S. Halford, S. Bhattacharya, 2002, Investigative ophthalmology & visual science.

Practical In Situ Hybridization

S. Halford, 2000, Heredity.

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

S. Halford, S. Downes, Jing Yu, 2017, Progress in Retinal and Eye Research.

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

R. Lund, S. Halford, P. Coffey, 2002, Investigative ophthalmology & visual science.

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

G. Holder, S. Halford, V. Plagnol, 2016, JAMA ophthalmology.

Characterization of CDH 3-Related Congenital Hypotrichosis With JuvenileMacular Dystrophy

G. Holder, S. Halford, V. Plagnol, 2016 .

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

A. Baldini, S. Halford, E. Lindsay, 1993, Human molecular genetics.

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

P. Scambler, A. Baldini, S. Halford, 1993, Genomics.

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

C. Roberts, S. Halford, P. Scambler, 1997, Human molecular genetics.

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

D. Hunt, S. Halford, C. Spalluto, 2004, Cytogenetic and Genome Research.

Targeted Mutagenesis of the Hira Gene Results in Gastrulation Defects and Patterning Abnormalities of Mesoendodermal Derivatives Prior to Early Embryonic Lethality

Peter J. Scambler, Helen F. Sutherland, Stephanie Halford, 2002, Molecular and Cellular Biology.

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

E. Zeggini, J. Levy, M. Walker, 2005, Diabetic medicine : a journal of the British Diabetic Association.

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

P. Scambler, A. Baldini, S. Halford, 1996, American journal of human genetics.

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

Stephanie Halford, Julius O. B. Jacobsen, Daniel Greene, 2017, Bioinform..

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

P. Scambler, C. Roberts, S. Halford, 1993, Journal of medical genetics.

marker HP 500 ( D 22 S 134 ) . sequences close to the DiGeorge syndrome Isolation of a new marker and conserved

C. Roberts, S. Halford, J. Goodship, 2022 .

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

D. Hunt, S. Halford, A. Moore, 2003, Genomics.

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

F. Deist, S. Halford, A. Aurias, 1993, Human Genetics.

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

M. Mattéi, C. Roberts, S. Halford, 1993, Human molecular genetics.

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

S. Halford, S. Downes, Jing Yu, 2021, Genes.

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions

S. Halford, S. Downes, Jing Yu, 2021, Therapeutic advances in ophthalmology.

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis

S. Halford, S. Downes, A. Nemeth, 2021, Ophthalmic genetics.

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

M. McCarthy, E. Zeggini, C. Groves, 2005, The Journal of clinical endocrinology and metabolism.

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

I. Dunham, C. Roberts, A. Baldini, 1993, Human molecular genetics.

Molecular Genetic Study of the Frequency of Monosomy 22q I I in DiGeorge Syndrome

Paul, D., S. Halford, 2006 .

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

X. Estivill, M. Farrall, S. Halford, 1990, Genomics.

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

R. Kucherlapati, S. Weissman, B. Morrow, 1997, Genomics.

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

S. Halford, P. Clouston, R. MacLaren, 2020, JAMA ophthalmology.

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

S. Halford, J. Goodship, J. Burn, 1995, Human molecular genetics.

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

S. Halford, S. Peirson, R. Foster, 2007, Proceedings of the Royal Society B: Biological Sciences.

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

S. Halford, P. Clouston, S. Downes, 2020, Genes.

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Rachel L. Taylor, S. Halford, V. Plagnol, 2019, Ophthalmology.

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

S. Halford, P. Clouston, R. MacLaren, 2020, Genes.

Hira, a gene from the DGS/VCFS region, is required for normal embryogenesis.

Lui, Peter J. Scambler, Catherine Roberts, 1998 .

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

S. Halford, A. Webster, A. Moore, 2007 .

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

S. Halford, D. Mackay, 2012, Experimental eye research.

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

P. Scambler, S. Halford, R. Williamson, 1991, Genomics.

Vertebrate ancient opsin photopigment spectra and the avian photoperiodic response

S. Halford, S. Peirson, R. Foster, 2011, Biology Letters.

VA Opsin-Based Photoreceptors in the Hypothalamus of Birds

S. Halford, S. Peirson, R. Foster, 2009, Current Biology.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Stephanie Halford, Julius O. B. Jacobsen, Susan M. Downes, 2016, bioRxiv.

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

R. Holt, L. Brown, S. Halford, 2015, Experimental eye research.

Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

R. Holt, S. Halford, S. Downes, 2012, Archives of ophthalmology.

Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy

S. Sivaprasad, S. Halford, S. Downes, 2023, Vision.

“Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”

S. Halford, P. Clouston, R. MacLaren, 2020, Eye.

Ocular coloboma: a reassessment in the age of molecular neuroscience

S. Halford, M. J. Williams, K. Gregory-Evans, 2004, Journal of Medical Genetics.

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

S. Halford, Nikolas Pontikos, M. Michaelides, 2021, medRxiv.

Identification ofa NovelTranscript Disrupted bya Balanced Translocation Associated withDiGeorge Syndrome

A. Baldini, S. Halford, J. Goodship, 1996 .

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

S. Halford, P. Clouston, S. Downes, 2023, Genes.

CDX2 mutations do not account for juvenile polyposis or Peutz–Jeghers syndrome and occur infrequently in sporadic colorectal cancers

L. Aaltonen, W. Bodmer, R. Houlston, 2001, British Journal of Cancer.

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

D. Smedley, S. Halford, C. Charon, 2004, The Journal of investigative dermatology.

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

D. Porteous, S. Halford, A. Clarke, 1992, Transgenic Research.

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

X. Estivill, J. Kere, A. de la Chapelle, 1993, Human molecular genetics.

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

R. Lund, S. Halford, P. Adamson, 2000 .

Assignment1 of Claudin-1 (CLDN1) to human chromosome 3q28→q29 with somatic cell hybrids

D. Hunt, S. Halford, P. Adamson, 2000, Cytogenetic and Genome Research.

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

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.