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List of works by Stephen P. Daiger

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

scientific article

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

scientific article

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

scientific article

A newStyl RFLP and haplotypes with theHindIII RFLP at the D8S5 (TL11) locus ⬇️

scientific article published on September 11, 1991

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

scientific article

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

scientific article

A tight linkage cluster, with two new RFLPs (D8S96 and D8S108), in the interval 8cen-q13 ⬇️

scientific article published on March 25, 1992

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

scientific article published on August 12, 2011

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

scientific article published on January 1, 1992

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

scientific article

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

scientific article

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

scientific article published on February 2016

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

scientific article

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

scientific article

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

scientific article published on 29 October 2009

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

scientific article published on 03 December 2008

Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species

scientific article published on 3 October 2007

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

scientific article published on September 1, 1991

Clinical variability and genetic heterogeneity within the Acadian Usher population

scientific article

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

scientific article

Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases

scientific article published on January 2014

DNA linkage studies of degenerative retinal diseases

scientific article published on January 1987

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

scientific article

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

scientific article published in June 2006

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

scientific article published on November 1, 1977

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

scientific article

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

scientific article published on March 1, 1978

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

scientific article

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

scientific article published on 11 November 2016

Dinucleotide repeat polymorphism at the human tissue plasminogen activator gene (PLAT).

scientific article published on November 1991

Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa

scientific journal article

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

scientific article published on 22 February 2000

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

scientific article published on January 1993

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

scientific article published on October 1, 1992

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

scientific article published on August 1987

Exclusion of Atypical Vitelliform Macular Dystrophy from 8q24.3 and from Other Known Macular Degenerative Loci ⬇️

scientific article published on July 1, 1997

Exclusion of Usher syndrome gene from much of chromosome 4.

scientific article published in January 1989

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

scientific article published on October 1, 2003

Exome-based mapping and variant prioritization for inherited Mendelian disorders

scientific article published on 20 February 2014

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

scientific article

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

scientific article published on July 1, 1985

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

scientific article published on May 2015

Functional Studies of AIPL1

Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors

scientific article

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

scientific article published on September 1990

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa

scientific article

Genes and mutations causing retinitis pigmentosa

scientific article

Genetic factors modifying clinical expression of autosomal dominant RP.

scientific article published on January 2006

Genetics. Was the Human Genome Project worth the effort?

scientific article

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

scientific article

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

scientific article published on June 1, 1975

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

scientific article published in May 1989

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

scientific article published on May 1, 1984

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

scientific article published on 25 November 2011

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

scientific article published on September 1, 1992

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

scientific article published on March 1997

IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA

scientific article

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

scientific article published on January 2016

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

scientific article

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

scientific article published on January 2003

Identifying and mapping novel retinal-expressed ESTs from humans.

scientific article published on 04 May 1999

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

scientific article published on January 2004

Inherited retinal degeneration: exceptional genetic and clinical heterogeneity

scientific article

Innovating patient care delivery: DSRIP's interrupted time series analysis paradigm

scientific article published on 7 December 2017

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

scientific article

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

scientific article

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

scientific article published in January 1989

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

scientific article

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

scientific article (publication date: May 1997)

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

scientific article

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

scientific article published in December 1992

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

scientific article

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

scientific article published in January 2018

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

scientific article

Multimodal Imaging in Wagner Syndrome

scientific article

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

scientific article published on July 1, 1984

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

scientific article

Mutations in Linkage Disequilibrium With Putative Disease-Causing Mutations.

scientific article published in September 2016

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

scientific article

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

scientific article

Mutations in a new photoreceptor-pineal gene on 17p cause leber congenital amaurosis. Nat gen 2000;24:79-83

scientific article published on June 2000

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

scientific article

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

scientific article published on January 2008

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

scientific article published on October 1999

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

scientific article published on 19 May 2008

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

scientific article

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

scientific article

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

scientific article published on 20 July 2017

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

scientific article

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

scientific article published on 17 October 2016

On the role of IMPDH1 in retinal degeneration

scientific article published on January 2003

PCR detection of the BgIII RFLP at the RBP3 locus

scientific article published in September 1990

Perspective on genes and mutations causing retinitis pigmentosa

scientific article published on February 2007

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

scientific article

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

scientific article

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

scientific article published in May 1987

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

scientific article

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

scientific article

Polymorphic Variation of RPGRIP1L and IQCB1 as Modifiers of X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR ⬇️

scientific article published on January 1, 2012

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

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

scientific article

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

scientific article

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

scientific article published on 19 September 2013

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

scientific article

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

scientific article published in June 1994

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

scientific article

Reply to Inglehearn and Hardcastle: The Map Is Not the Territory

scientific article published in February 1996

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in Nature

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

scientific article

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

scientific article published in June 1988

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

scientific article published on November 1, 2001

Standardization of nomenclature for transcobalamin II variants

scientific article published in January 1982

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

scientific article

Tetranucleotide repeat polymorphism (D8S582) for human EST00680 (D8S340E).

scientific article published in February 1994

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

scientific article published on 17 October 2007

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

scientific article published on January 2016

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.

scientific article

The genetics of transport proteins in human plasma and serum

1976 thesis (Ph.D.) submitted to Stanford University by Stephen Daiger

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

scientific article

Van der Woude syndrome and nonsyndromic cleft lip and palate

scientific article published in August 1992

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

scientific article published on March 23, 1978

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

scientific article

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

scientific article published on July 1, 1995

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