S. Daiger

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Perspective on genes and mutations causing retinitis pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2007, Archives of ophthalmology.

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

S. Daiger, S. Blanton, J. Heckenlively, 1991, Genomics.

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

S. Daiger, S. Blackshaw, M. Dyer, 2003, Human molecular genetics.

Erratum: The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 (Human Molecular Genetics (2002) vol. 11 (2723-2733))

S. Daiger, S. Blackshaw, M. Dyer, 2003 .

Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.

G. Fish, S. Daiger, S. Bowne, 2005, American journal of ophthalmology.

Was the Human Genome Project Worth the Effort?

Stephen P. Daiger, S. Daiger, 2005, Science.

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

S. Daiger, W. H. Lo, Y. Zeng, 1989, American journal of human genetics.

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).

S. Daiger, R. Brdička, D. Schuler, 1989, American journal of human genetics.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Hatice Duzkale, Hope Northrup, R. Lewis, 2006, Investigative ophthalmology & visual science.

Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).

S. Daiger, S. Bowne, L. Sullivan, 2018, Advances in experimental medicine and biology.

Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins.

S. Daiger, S. Bowne, L. Hedstrom, 2008, Archives of biochemistry and biophysics.

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene

Jiangang Gao, Jian Zuo, Steven Nusinowitz, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC).

S. Daiger, H. Northrup, R. Evans, 1997, Journal of medical genetics.

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

S. Daiger, D. Kwiatkowski, S. Blanton, 1992, American journal of human genetics.

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

R. Wilson, R. Fulton, D. Koboldt, 2016, Molecular vision.

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

K. Conneely, E. Stone, S. Daiger, 2016, Investigative ophthalmology & visual science.

Familial aggregation of coronary heart disease and its relation to known genetic risk factors.

S. Daiger, A. Motulsky, H. Boman, 1982, The American journal of cardiology.

Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.

S. Daiger, S. Bowne, L. Sullivan, 2011, Archives of ophthalmology.

Increased frequency of coronary heart disease in relatives of wives of myocardial infarct survivors: assortative mating for lifestyle and risk factors?

S. Daiger, A. Motulsky, H. Boman, 1984, The American journal of cardiology.

Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus.

D. McConnell, S. Daiger, D. Bradley, 1989, American journal of human genetics.

Genetic susceptibility to AIDS: absence of an association with group-specific component (Gc)

S. Daiger, L. Louie, P. Mansell, 1987, The New England journal of medicine.

Heritability of quantitative variation at the group-specific component (Gc) locus.

S. Daiger, R. Chakraborty, M. Miller, 1984, American journal of human genetics.

Detection of genetic variation with radioactive ligands. II. Genetic variants of vitamin D-labeled group-specific component (Gc) proteins.

L. Cavalli-Sforza, S. Daiger, 1977, American journal of human genetics.

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies

S. Daiger, S. Bowne, L. Sullivan, 2010, Ophthalmic genetics.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

S. Bhattacharya, S. Daiger, J. Heckenlively, 2000, Molecular genetics and metabolism.

Standardization of nomenclature for transcobalamin II variants

L. Cavalli-Sforza, S. Daiger, A. Eriksson, 2004, Human Genetics.

Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant

S. Daiger, S. Bowne, L. Sullivan, 2018, Investigative ophthalmology & visual science.

Vitamin-D-binding protein in the Williams syndrome and idiopathic hypercalcemia.

L. Cavalli-Sforza, M. Parsons, S. Daiger, 1978, The New England journal of medicine.

Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites.

G. Weinstock, E. Sodergren, S. Daiger, 1997, Genomics.

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy

J. Pepose, S. Daiger, L. Sullivan, 2007, Molecular vision.

Functional Analysis of AIPL1

S. Daiger, C. Craft, M. Sohocki, 2001 .

POLYMORPHIC DNA HAPLOTYPES AT THE PHENYLALANINE HYDROXYLASE LOCUS IN PRENATAL DIAGNOSIS OF PHENYLKETONURIA

S. Daiger, R. Chakraborty, R. Koch, 1986, The Lancet.

Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.

A. Beaudet, H. Zoghbi, S. Daiger, 1988, American journal of human genetics.

Understanding the genetic architecture of human retinal degenerations

S. Daiger, J. Hejtmancik, 2020, Proceedings of the National Academy of Sciences.

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

P. Mattar, S. Daiger, M. Cayouette, 2022, Science advances.

Report of the Third International Workshop on Human Chromosome 8 Mapping. San Antonio, Texas, October 25-27, 1996.

P. O'Connell, S. Naylor, S. Daiger, 1996, Cytogenetics and cell genetics.

Report of the Third International Workshop on Human Chromosome 8 Mapping 1996

P. O'Connell, S. Naylor, S. Daiger, 1993 .

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

A. Dilella, S. Daiger, K. Robson, 1985, American journal of human genetics.

Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

S. Daiger, J. Connor, R. Gitzelmann, 1989, American journal of human genetics.

Detection of genetic variation with radioactive ligands. I. Electrophoretic screening of plasma proteins with a selected panel of compounds.

L. Cavalli-Sforza, S. Daiger, D. P. Rummel, 1977, American journal of human genetics.

Human thyroxine-binding globulin (TBG): Heterogeneity within individuals and among individuals demonstrated by isoelectric focusing

S. Daiger, R. Wildin, 1981, Biochemical Genetics.

Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.

D. Zack, S. Daiger, J. Heckenlively, 2001, Investigative ophthalmology & visual science.

Visual phenotype in patients with Arg41Gln and Ala196+1bp mutations in the CRX gene

S. Daiger, D. Birch, M. Sohocki, 2000, Ophthalmic genetics.

ON THE ROLE OF IMPDHI IN RETINAL DEGENERATION

S. Daiger, 2003 .

On the role of IMPDH1 in retinal degeneration.

A. Kennan, A. Aherne, S. Daiger, 2003, Advances in experimental medicine and biology.

Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.

J. Ott, A. Beaudet, H. Zoghbi, 1989, American journal of human genetics.

The anonymous polymorphic DNA clone D1S1, previously mapped to human chromosome 1p36 by in situ hybridization, is from chromosome 3 and is duplicated on chromosome 1.

D. Ledbetter, S. Daiger, P. Vantuinen, 1986, American journal of human genetics.

Polymorphisms at VNTR loci suggest homogeneity of the white population of Utah.

S. Daiger, R. Chakraborty, 1991, Human biology.

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Michael F. Wangler, A. Moser, S. Daiger, 2016, Molecular genetics and metabolism reports.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

D. Koboldt, N. Katsanis, S. Daiger, 2020, American journal of human genetics.

Cleft lip and palate: no evidence of linkage to transforming growth factor alpha.

S. Daiger, S. Blanton, J. Hecht, 1991, American journal of human genetics.

Genetic and functional complexity of inherited retinal degeneration

S. Daiger, L. Sullivan, Joseph A. Rodriguez, 1995 .

Correlation of phenotype with genotype in inherited retinal degeneration

S. Daiger, L. Sullivan, Joseph A. Rodriguez, 1995 .

Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred

A. Beaudet, H. Zoghbi, S. Daiger, 1988, Annals of neurology.

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

C. Freund, R. Mcinnes, S. Daiger, 1998, American journal of human genetics.

Genes and mutations causing retinitis pigmentosa

S. Daiger, S. Bowne, L. Sullivan, 2013, Clinical genetics.

Survival of Texas infants born with trisomies 21, 18, and 13

S. Daiger, M. Gambello, J. Hecht, 2010, American journal of medical genetics. Part A.

Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24.

S. Daiger, L. Sullivan, S. Blanton, 1997, Genomics.

Group-specific component (Gc) proteins bind vitamin D and 25-hydroxyvitamin D.

L. Cavalli-Sforza, S. Daiger, M. Schanfield, 1975, Proceedings of the National Academy of Sciences of the United States of America.

Detection of genetic variation with radioactive ligands. IV. X-linked, polymorphic genetic variation of thyroxin-binding globulin (TBG).

L. Cavalli-Sforza, S. Daiger, L. Wang, 1981, American journal of human genetics.

Deletion mapping of polymorphic loci by apparent parental exclusion.

A. Chakravarti, S. Daiger, 1983, American journal of medical genetics.

The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2.

D. Ledbetter, S. Daiger, A. Gotto, 1985, Biochemical and biophysical research communications.

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.

S. Daiger, J. Heckenlively, J. A. Rodríguez, 1991, Archives of ophthalmology.

SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

Li Zhao, Fei Wang, Yong Chen, 2017, BMC Bioinformatics.

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

C. Larsson, S. Daiger, S. Bowne, 2009, American journal of human genetics.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2014, Human Genetics.

Identifying and mapping novel retinal-expressed ESTs from humans.

S. Daiger, L. Sullivan, M. Sohocki, 1999, Molecular vision.

Detection of Large Structural Variants Causing Inherited Retinal Diseases.

D. Koboldt, S. Daiger, S. Bowne, 2019, Advances in experimental medicine and biology.

Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families

S. Daiger, S. Bowne, L. Sullivan, 2017, Molecular vision.

A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

D. Koboldt, S. Daiger, S. Bowne, 2017, Investigative ophthalmology & visual science.

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

R. Wilson, R. Fulton, G. Weinstock, 2016, Advances in experimental medicine and biology.

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2015, Cold Spring Harbor perspectives in medicine.

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

R. Wilson, R. Fulton, G. Weinstock, 2014, Investigative ophthalmology & visual science.

Retinitis Pigmentosa Overview

S. Daiger, R. Weleber, Abigail T. Fahim, 2013 .

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

R. Fulton, G. Weinstock, L. Ding, 2011, European Journal of Human Genetics.

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

S. Daiger, S. Bowne, L. Sullivan, 2001, Human mutation.

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

A. Dilella, S. Daiger, F. Güttler, 1987, Human Genetics.

Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa

S. Daiger, S. Bowne, L. Sullivan, 2009, The Journal of Neuroscience.

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa

M. Clark, S. Daiger, S. Bowne, 2016, PloS one.

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2013, Investigative ophthalmology & visual science.

Localization of two genes for Usher syndrome type I to chromosome 11.

W. Reardon, M. Jay, S. Daiger, 1992, Genomics.

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration

S. Daiger, L. Sullivan, E. Pierce, 2022, Cold Spring Harbor molecular case studies.

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.

R. Fulton, G. Weinstock, L. Ding, 2011, Investigative ophthalmology & visual science.

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.

G. Weinstock, S. Daiger, S. Bowne, 2009, Advances in experimental medicine and biology.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

G. Abecasis, A. Swaroop, D. Breuer, 2009, American journal of human genetics.

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

R. Lewis, S. Daiger, S. Bowne, 2006, Investigative ophthalmology & visual science.

Genetic factors modifying clinical expression of autosomal dominant RP.

E. Stone, S. Daiger, S. Bowne, 2006, Advances in experimental medicine and biology.

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

S. Daiger, L. Sullivan, A. Gal, 1996, Human Genetics.

Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig.

E. Green, G. Bouffard, S. Daiger, 1996, Genome research.

Apparent heterozygote deficiencies observed in DNA typing data and their implications in forensic applications

S. Daiger, R. Chakraborty, B. Budowle, 1992, Annals of human genetics.

Report and abstracts of the First International Workshop on Human Chromosome 8 Mapping. Vancouver, British Columbia, May 2-4, 1993.

S. Daiger, S. Blanton, U. Bergerheim, 1993, Cytogenetics and cell genetics.

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

C. Cepko, S. Bhattacharya, S. Daiger, 2000, Nature Genetics.

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Yumei Li, George M Weinstock, Rui Chen, 2014, Advances in experimental medicine and biology.

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Jennifer D. Churchill, R. Lewis, S. Daiger, 2013, Investigative Ophthalmology and Visual Science.

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa

S. Daiger, S. Bowne, L. Sullivan, 2008, Molecular vision.

The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2007, Molecular vision.

Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE.

K. Boon, M. Hauser, S. Daiger, 2006, Investigative ophthalmology & visual science.

Linkage Mapping in Families With Autosomal Dominant Retinitis Pigmentosa (adRP)

S. Daiger, S. Bowne, L. Sullivan, 2005 .

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

P. Sieving, A. Swaroop, H. Khanna, 2010, Eye.

Evolution of nuclear gene families in primates, Copy-number variation in the argininosuccinate synthetase (ASS) pseudogene family and the anonymous DNA sequence, D1S1

S. Daiger, M. E. Goode, Barbara D. Trowbridge, 1987, Genetica.

Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations

S. Daiger, S. Bowne, L. Sullivan, 2011, PloS one.

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.

M. Pembrey, S. Daiger, M. Wagner, 1994, American journal of medical genetics.

Molecular findings from 537 individuals with inherited retinal disease

I. C. Lloyd, J. Lamb, S. Daiger, 2016, Journal of Medical Genetics.

Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.

R. Lewis, S. Daiger, L. Sullivan, 2003, Investigative ophthalmology & visual science.

Genetics of Ocular Vascular Disease

S. Daiger, A. Ziskind, J. Greenberg, 2006 .

IMP Dehydrogenase Type 1 Associates with Polyribosomes Translating Rhodopsin mRNA*

S. Daiger, S. Bowne, L. Hedstrom, 2008, Journal of Biological Chemistry.

Comments on Gene Symbols and Terminology

S. Daiger, 1993 .

The Role of X-Chromosome Inactivation in Retinal Development and Disease.

S. Daiger, Abigail T. Fahim, 2016, Advances in experimental medicine and biology.

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

Jian Zuo, A. Kennan, S. Daiger, 2003, Molecular vision.

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

Winston A Hide, S. Daiger, S. Bowne, 1999, Nature Genetics.

Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders.

S. Daiger, L. Sullivan, M. Sohocki, 1999, Genomics.

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

R. Lewis, S. Daiger, S. Bowne, 2006, Investigative ophthalmology & visual science.

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Seth Blackshaw, C. Cepko, S. Daiger, 2002, Human molecular genetics.

Chapter 31 – Genetic Mechanisms of Retinal Disease

S. Daiger, S. Bowne, L. Sullivan, 2012 .

Human chromosome 8 linkage map based on short tandem repeat polymorphisms: effect of genotyping errors.

S. Daiger, S. Blanton, L. Sadler, 1992, Genomics.

Second International Workshop on Human Chromosome 8 Mapping 1994. Eynsham Hall, Oxford, UK, 16-18 September, 1994

Y. Nakamura, S. Daiger, L. Sullivan, 1994 .

Detection of genetic variation with radioactive ligands. III. genetic polymorphism of transcobalamin II in human plasma.

L. Cavalli-Sforza, M. Parsons, S. Daiger, 1978, American journal of human genetics.

Clinical variability and genetic heterogeneity within the Acadian Usher population.

S. Daiger, B. Keats, W. Kimberling, 1992, American journal of medical genetics.

Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase

S. Daiger, T. Su, R. Wildin, 1982, Nature.

Nonsyndromic Retinitis Pigmentosa Overview

S. Daiger, R. Weleber, Abigail T. Fahim, 2017 .

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

I. MacDonald, S. Daiger, Xinjing Wang, 2011, Investigative ophthalmology & visual science.

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

Kang Zhang, Nicholas Katsanis, Donald J Zack, 2010, American journal of human genetics.

Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci.

S. Daiger, L. Sullivan, R. Ferrell, 1997, American journal of human genetics.

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2019, Ophthalmology. Retina.

The Southwest Eye Registry: A Twelve-Year Evaluation

S. Daiger, S. Bowne, L. Sullivan, 2007 .

Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

F. Cremers, J. D. den Dunnen, S. Daiger, 2013, Human mutation.

The Southwest Eye Registry

S. Daiger, D. Birch, D. Wheaton, 2001 .

Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q.

S. Daiger, S. Blanton, J. Heckenlively, 1990, Genomics.

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

S. Daiger, L. Sullivan, Joseph A. Rodriguez, 2004, Human Genetics.

A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa

S. Daiger, D. Birch, Joseph A. Rodriguez, 1993, Human mutation.

Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups.

D. McConnell, S. Daiger, D. Bradley, 1989, Cytogenetics and cell genetics.

DNA linkage studies of degenerative retinal diseases.

S. Daiger, J. Heckenlively, R. Lewis, 1987, Progress in clinical and biological research.

Progress in Positional Cloning of RP10 (7q31.3), RP1 (8q11–q21), and VMD1 (8q24)

E. Green, S. Daiger, L. Sullivan, 1997 .

Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.

A. Milam, S. Daiger, L. Sullivan, 2002, Investigative ophthalmology & visual science.

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Jennifer D. Churchill, David E Larson, Nathaniel G. Nutter, 2014, American journal of human genetics.

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa

P. Sieving, A. Roorda, J. Duncan, 2013, Molecular vision.

Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance

S. Daiger, S. Bowne, L. Sullivan, 2009, European Journal of Human Genetics.

Multiple, independent restriction site polymorphisms in human DNA detected with a cDNA probe to argininosuccinate synthetase (AS).

S. Daiger, T. Su, R. Wildin, 1984, American journal of human genetics.

Evaluation of standard error and confidence interval of estimated multilocus genotype probabilities, and their implications in DNA forensics.

M. R. Srinivasan, M R Srinivasan, S. Daiger, 1993, American journal of human genetics.

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

V. Sheffield, E. Stone, S. Daiger, 2008, Ophthalmic genetics.

Multilocus linkage analysis with the human argininosuccinate synthetase gene.

A. Beaudet, M. Lathrop, S. Daiger, 1989, Genomics.

Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2010, Advances in experimental medicine and biology.

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity.

S. Daiger, L. Sullivan, S P Daiger, 1996, Molecular medicine today.

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans

S. Daiger, L. Sullivan, M. Sohocki, 2001, Mammalian Genome.

Exclusion of Usher syndrome gene from much of chromosome 4.

S. Daiger, C. Caskey, B. Alford, 1989, Cytogenetics and cell genetics.

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

E. Stone, S. Daiger, S. Bowne, 2015, JAMA ophthalmology.

Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?

S. Daiger, S. Bowne, L. Sullivan, 2006, Investigative ophthalmology & visual science.

Identifying retinal disease genes: how far have we come, how far do we have to go?

S. Daiger, Stephen P Daiger, 2004, Novartis Foundation symposium.

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.

S. Daiger, O. Sandgren, I. Golovleva, 2010, Advances in experimental medicine and biology.

Was the Human Genome Project Worth the Effort?

S. Daiger, Stephen P Daiger, 2005, Science.

Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.

S. Daiger, S. Blanton, J. Hecht, 1992, American journal of medical genetics.

Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa.

S. Daiger, S. Bowne, L. Sullivan, 2019, American journal of ophthalmology.

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

M. Hims, A. Bird, S. Daiger, 1999, Human molecular genetics.

Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.

S. Daiger, J. Sears, D. Moshfeghi, 2001, American journal of ophthalmology.

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

S. Daiger, L. Sullivan, C. Hoyng, 2023, Translational vision science & technology.

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

S. Daiger, S. Bowne, L. Sullivan, 2012, Advances in experimental medicine and biology.

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

P. Sieving, A. Swaroop, A. Wright, 2000, American journal of human genetics.

Assignment of autosomal dominant spinocerebellar ataxia centromeric to HLA using multilocus linkage analysis

J. Ott, A. Beaudet, H. Zoghbi, 1988 .

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

A. Kennan, S. Daiger, S. Bowne, 2003, Advances in experimental medicine and biology.

Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A.

Y Wang, S. Daiger, S. Blanton, 1993, American journal of human genetics.

Linkage Analysis of the X Chromosome in a Brazilian Family With Leber Hereditary Optic Neuropathy (LHON)

T. Braun, E. Stone, S. Daiger, 2005 .

Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species.

S. Daiger, S. Bowne, L. Sullivan, 2007, Molecular vision.

Frequency and Spectrum of IMPDH1 Mutations Associated with Autosomal Dominant Retinitis Pigmentosa

S. Daiger, S. Bowne, L. Sullivan, 2003 .

The Gly 56 Arg mutation in NR 2 E 3 accounts for 1-2 % of autosomal dominant retinitis pigmentosa

S. Daiger, S. Bowne, L. Sullivan, 2007 .

Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25

S. Daiger, S. Bowne, L. Sullivan, 2003, Current eye research.

Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q.

A. Kennan, S. Daiger, S. Bowne, 2000, Molecular vision.

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

R. Fulton, G. Weinstock, L. Ding, 2011, European Journal of Human Genetics.

Retinitis pigmentosa: genes, proteins and prospects.

M. Hims, S. Daiger, C. Inglehearn, 2003, Developments in ophthalmology.

Retinal Targeted-Capture Next Generation Sequencing and CLIA Confirmation in Patients with a Range of Inherited Retinal Degeneration

S. Daiger, S. Bowne, L. Sullivan, 2016 .

A tandem duplication of PRDM13 in a family with North Carolina Macular Dystrophy (MCRD1)

R. Wilson, R. Fulton, D. Koboldt, 2016 .

Complex Multi-Allelic Inherited Retinal Dystrophy: Multiple Genes Contributing Independently and Concurrently in Extended Families

S. Daiger, S. Bowne, L. Sullivan, 2016 .

Van der Woude syndrome and nonsyndromic cleft lip and palate.

S. Daiger, S. Blanton, J. Hecht, 1992, American journal of human genetics.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Jacqueline Pei, Cindy Wen, Kang Zhang, 2013, Human Genetics.

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

S. Daiger, S. Blanton, W. Dobyns, 1992, American journal of human genetics.

Dinucleotide repeat polymorphism at the CRH gene.

S. Daiger, L. Sadler, M. Wagner, 1993, Human molecular genetics.

Multimodal Imaging in Wagner Syndrome.

R. V. Van Gelder, S. Daiger, S. Bowne, 2016, Ophthalmic surgery, lasers & imaging retina.

X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.

S. Daiger, L. Sullivan, S. Blanton, 1995, American journal of human genetics.

Remapping of the RP 15 Locus for X-Linked Cone-Rod Degeneration to Xp 11 . 4p 21 . 1 , and Identification of a De Novo Insertion in the RPGR Exon ORF 15

P. Sieving, A. Swaroop, R. Vervoort, 2022 .

Localization and characterization of the human ADP-ribosylation factor 5 (ARF5) gene.

E. Green, S. Daiger, R. E. McGuire, 1997, Genomics.

Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).

S. Daiger, S. Bowne, L. Sullivan, 2008, Advances in experimental medicine and biology.

IMP Dehydrogenase Type 1 Associates with Polyribosomes Translating Rhodopsin mRNA*

S. Daiger, L. Hedstrom, Sir Mortimer, 2008, Journal of Biological Chemistry.

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

R. Fulton, D. Koboldt, S. Daiger, 2016, Molecular vision.

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

S. Daiger, L. Sullivan, Xinjing Wang, 2013, Investigative ophthalmology & visual science.

A novel splice site mutation in the gene for peripherin/RDS causing dominant retinal degeneration

S. Daiger, L. Sullivan, D. Birch, 1996 .

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Jennifer D. Churchill, R. Lewis, S. Daiger, 2013, Investigative ophthalmology & visual science.

Screening for mutations in rhodopsin and peripherin/RDS in patients with autosomal dominant retinitis pigmentosa

S. Daiger, Joseph A. Rodriguez, A. M. Gannon, 1994 .

Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32.

J. Towbin, S. Daiger, A. Marian, 1995, Circulation.

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

I. MacDonald, S. Daiger, Xinjing Wang, 2011, Investigative ophthalmology & visual science.

Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.

D. McConnell, S. Daiger, D. Bradley, 1989, Genomics.

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies

S. Daiger, L. Sullivan, O. Sandgren, 2010, Ophthalmic genetics.