S. J. Bowne

发表

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.

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

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

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

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

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

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

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.

Genes and mutations causing retinitis pigmentosa

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

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.

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

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.

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.

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.

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.

Perspective on genes and mutations causing retinitis pigmentosa.

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

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.

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 a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

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

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.

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

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

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.

Genetic factors modifying clinical expression of autosomal dominant RP.

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

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

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

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.

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.

Optical Coherence Tomography in Patients Diagnosed with North Carolina Macular Dystrophy N

L. Sullivan, D. Birch, K. Locke, 2022 .

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

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

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

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

IMP Dehydrogenase Type 1 Associates with Polyribosomes Translating Rhodopsin mRNA*

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

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.

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

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

North Carolina Macular Dystrophy (mcdr1) Caused by a Novel Tandem Duplication of the Prdm13 Gene Retina Foundation of the Southwest Recommended Citation

D. Koboldt, L. Sullivan, K. Locke, 2022 .

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

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

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.

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.

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.

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.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

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.

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

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

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.

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.

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

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

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.

Chapter 31 – Genetic Mechanisms of Retinal Disease

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

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

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

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.

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

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