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Sara Bowne

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Polymorphism, Single-Stranded Conformational

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Jennifer D Churchill; David G Birch; Sara J Bowne; Kari E Branham; John R Heckenlively; Richard Alan Lewis; Lori S Sullivan; Dianna K Wheaton; Stephen P Daiger
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.
Yuquan Wen; David G Birch; Sara J Bowne; Stephen P Daiger; Martin Klein; Kirsten G Locke; Joseph W Ray; Lori S Sullivan; Dianna Hughbanks-Wheaton
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Sara J Bowne; Matthew Campbell; Stephen P Daiger; Li Ding; G Jane Farrar; Robert S Fulton; Marian Humphries; Paul F Kenna; Anna S Kiang; Daniel C Koboldt; Ioanna Konidari; Alex McKee; Sophia Millington-Ward; Arpad Palfi; Susan Slifer; Erica Sodergren; Lori S Sullivan; Lawrence C S Tam; George M Weinstock; Denis Allman; S Blanton; Peter Humphries
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

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All Publications

2013: Jennifer D Churchill; David G Birch; Sara J Bowne; Kari E Branham; John R Heckenlively; Richard Alan Lewis; Lori S Sullivan; Dianna K Wheaton; Stephen P Daiger
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.
Investigative ophthalmology & visual science 2013;54(2):1411-6.
2011: Yuquan Wen; David G Birch; Sara J Bowne; Stephen P Daiger; Martin Klein; Kirsten G Locke; Joseph W Ray; Lori S Sullivan; Dianna Hughbanks-Wheaton
Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Archives of ophthalmology 2011;129(11):1475-82.
2011: Sara J Bowne; Matthew Campbell; Stephen P Daiger; Li Ding; G Jane Farrar; Robert S Fulton; Marian Humphries; Paul F Kenna; Anna S Kiang; Daniel C Koboldt; Ioanna Konidari; Alex McKee; Sophia Millington-Ward; Arpad Palfi; Susan Slifer; Erica Sodergren; Lori S Sullivan; Lawrence C S Tam; George M Weinstock; Denis Allman; S Blanton; Peter Humphries
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
European journal of human genetics : EJHG 2011;19(10):1074-81.
2011: Abigail T Fahim; Lori S Sullivan; Kaylie D Webb; Dianna K Wheaton; Jessica T Williams; David G Birch; Sara J Bowne; Stephen P Daiger
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
PloS one 2011;6(8):e23021.
2011: Sara J Bowne; Lori S Sullivan; Daniel C Koboldt; Li Ding; Robert Fulton; Rachel M Abbott; Erica J Sodergren; David G Birch; Dianna H Wheaton; John R Heckenlively; Qin Liu; Eric A Pierce; George M Weinstock; Stephen P Daiger
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
Investigative ophthalmology & visual science 2011;52(1):494-503.
2010: Catherine J Spellicy; Dong Xu; Garrett Cobb; Lizbeth Hedstrom; Sara J Bowne; Lori S Sullivan; Stephen P Daiger
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa.
Advances in experimental medicine and biology 2010;664():541-8.
2010: Stephen P Daiger; Lori S Sullivan; Sara J Bowne; David G Birch; John R Heckenlively; Eric A Pierce; George M Weinstock
Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.
Advances in experimental medicine and biology 2010;664():325-31.
2008: Dong Xu; Garrett Cobb; Catherine J Spellicy; Sara J Bowne; Stephen P Daiger; Lizbeth Hedstrom
Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins.
Archives of biochemistry and biophysics 2008;472(2):100-4.
2008: Sara J Bowne; Lori S Sullivan; Anisa I Gire; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
Molecular vision 2008;14():922-7.
2008: Stephen P Daiger; Lori S Sullivan; Anisa I Gire; David G Birch; John R Heckenlively; Sara J Bowne
Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).
Advances in experimental medicine and biology 2008;613():203-9.
2007: Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Perspective on genes and mutations causing retinitis pigmentosa.
Archives of ophthalmology 2007;125(2):151-8.
2007: Anisa I Gire; Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.
Molecular vision 2007;13():1970-5.
2007: Catherine J Spellicy; Stephen P Daiger; Lori S Sullivan; Jingya Zhu; Qin Liu; Eric A Pierce; Sara J Bowne
Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species.
Molecular vision 2007;13():1866-72.
2006: Lori S Sullivan; Sara J Bowne; C Robyn Seaman; S Blanton; Richard A Lewis; John R Heckenlively; David G Birch; Dianna Hughbanks-Wheaton; Stephen P Daiger
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2006;47(10):4579-88.
2006: Sara J Bowne; Qin Liu; Lori S Sullivan; Jingya Zhu; Catherine J Spellicy; Catherine Bowes Rickman; Eric A Pierce; Stephen P Daiger
Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?
Investigative ophthalmology & visual science 2006;47(9):3754-65.
2006: Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; S Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma Shankar; Stephen P Daiger
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Investigative ophthalmology & visual science 2006;47(7):3052-64.
2006: Stephen P Daiger; Suma Shankar; Alice B Schindler; Lori S Sullivan; Sara J Bowne; Terri King; E Warick Daw; Edwin M Stone; John R Heckenlively
Genetic factors modifying clinical expression of autosomal dominant RP.
Advances in experimental medicine and biology 2006;572():3-8.
2006: Sara J Bowne; Lori S Sullivan; Sarah E Mortimer; Lizbeth Hedstrom; Jingya Zhu; Catherine J Spellicy; Anisa I Gire; Dianna Hughbanks-Wheaton; David G Birch; Richard A Lewis; John R Heckenlively; Stephen P Daiger
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
Investigative ophthalmology & visual science 2006;47(1):34-42.
2005: Petra Kozma; Dianna Hughbanks-Wheaton; Kirsten G Locke; Gary E Fish; Anisa I Gire; Catherine J Spellicy; Lori S Sullivan; Sara J Bowne; Stephen P Daiger; David G Birch
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
American journal of ophthalmology 2005;140(5):858-867.
2003: Lori S Sullivan; Xinping Zhao; Sara J Bowne; Xiangyang Xu; Stephen P Daiger; Steven B Yee; Richard W Yee
Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25.
Current eye research 2003;27(4):223-6.
2003: Sara J Bowne; Stephen P Daiger; Kimberly A Malone; John R Heckenlively; Avril Kennan; Peter Humphries; Dianna Hughbanks-Wheaton; David G Birch; Qin Liu; Eric A Pierce; Jian Zuo; Qian Huang; Danyel D Donovan; Lori S Sullivan
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
Molecular vision 2003;9():129-37.
2003: Avril Kennan; Aileen Aherne; Sara J Bowne; Stephen P Daiger; G Jane Farrar; Paul F Kenna; Peter Humphries
On the role of IMPDH1 in retinal degeneration.
Advances in experimental medicine and biology 2003;533():13-8.
2003: Stephen P Daiger; Lori S Sullivan; Sara J Bowne; Avril Kennan; Peter Humphries; David G Birch; John R Heckenlively
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.
Advances in experimental medicine and biology 2003;533():1-11.
2002: Sara J Bowne; Lori S Sullivan; S Blanton; Constance L Cepko; Seth Blackshaw; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
Human molecular genetics 2002;11(5):559-68.
2001: Melanie M Sohocki; Stephen P Daiger; Sara J Bowne; J A Rodriquez; Hope Northrup; John R Heckenlively; David G Birch; HA Mintz-Hittner; Richard S Ruiz; R A Lewis; D A Saperstein; Lori S Sullivan
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Human mutation 2001;17(1):42-51.
2000: Sara J Bowne; Lori S Sullivan; L Ding; E Traer; Stephen M Prescott; David G Birch; Avril Kennan; Peter Humphries; Stephen P Daiger
Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q.
Molecular vision 2000;6():6-9.
2000: Melanie M Sohocki; Sara J Bowne; Lori S Sullivan; Seth Blackshaw; Constance L Cepko; Annette M Payne; Shomi S Bhattacharya; Shagufta Khaliq; S Qasim Mehdi; David G Birch; Wilbur R Harrison; Frederick F Elder; John R Heckenlively; Stephen P Daiger
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
Nature genetics 2000;24(1):79-83.
1999: Sara J Bowne; Stephen P Daiger; Matthew M Hims; Melanie M Sohocki; Kimberly A Malone; Arthur B McKie; John R Heckenlively; David G Birch; Chris F Inglehearn; Shomi S Bhattacharya; A Bird; Lori S Sullivan
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Human molecular genetics 1999;8(11):2121-8.
1999: Lori S Sullivan; John R Heckenlively; Sara J Bowne; Jian Zuo; Winston Hide; A Gal; M Denton; Chris F Inglehearn; S Blanton; Stephen P Daiger
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
Nature genetics 1999;22(3):255-9.