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Genetics February 2020

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

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Cathrine Jespersgaard; Amalie Brunbjerg Hey; Tomas Ilginis; Tina Duelund Hjortshøj; Mingyan Fang; Mette Bertelsen; Niels Bech; Hanne Jensen; Lasse Jonsgaard Larsen; Zeynep Tümer; Thomas Rosenberg; Karen Brøndum-Nielsen; Lisbeth Birk Møller; Karen Grønskov
TAGS: cilia, family, missense mutation, mutation, polydactyly, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2020; 61(2):29. doi: https://doi.org/10.1167/iovs.61.2.29

Clinical and Epidemiologic Research September 2017

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

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Nanna Vestergaard; Thomas Rosenberg; Christian Torp-Pedersen; Henrik Vorum; Carl U. Andersen; Kristian Aasbjerg
TAGS: comorbidity, optic atrophy, hereditary, leber, mortality, cohort studies
Invest. Ophthalmol. Vis. Sci.. 2017; 58(11):4586-4592. doi: https://doi.org/10.1167/iovs.17-21990

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Exome Sequence Analysis of 14 High-Grade Myopia Families

Terri L Young; Bethany Kloss; Stuart W Tompson; Kristina N Whisenhunt; Samuel Huang; Krystina Quow; Derek Pavelec; Thomas Rosenberg

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5481. doi:

Genetics April 2017

Exome Sequence Analysis of 14 Families With High Myopia

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Bethany A. Kloss; Stuart W. Tompson; Kristina N. Whisenhunt; Krystina L. Quow; Samuel J. Huang; Derek M. Pavelec; Thomas Rosenberg; Terri L. Young
TAGS: exome, family, myopia, genetic analysis, sequence analysis
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):1982-1990. doi: https://doi.org/10.1167/iovs.16-20883

Includes: Supplemental Content

Retina December 2016

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

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Marianne N. Hove; Kevser Z. Kilic-Biyik; Alana Trotter; Karen Grønskov; Birgit Sander; Michael Larsen; Joseph Carroll; Torben Bech-Hansen; Thomas Rosenberg
TAGS: denmark, eye diseases, mutation, prevalence, retinal cone, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2016; 57(15):6861-6869. doi: https://doi.org/10.1167/iovs.16-19445

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Whole Exome Sequencing Identifies a Rare Variant Co-segregating with High Myopia

Bethany A. Kloss; Stuart W. J. Tompson; Kristina Whisenhunt; Samuel J. Huang; Thomas Rosenberg; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3606. doi:

Genetics March 2016

Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population

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Thomas Rosenberg; Søren Nørby; Marianne Schwartz; Juliette Saillard; Paulo J. Magalhães; David Leroy; Erik C. Kann; Morten Duno
TAGS: danish, genetics, optic atrophy, hereditary, leber, prevalence, mutation
Invest. Ophthalmol. Vis. Sci.. 2016; 57(3):1370-1375. doi: https://doi.org/10.1167/iovs.15-18306

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2014

Analysis of the entire ABCA4 genomic locus in Stargardt disease patients in search for missing mutations

Jana Zernant; Carmen Ayuso; Francesca Simonelli; Mette Bertelsen; Thomas Rosenberg; Michael Gorin; Bo Yuan; Peter L Nagy; Rando Allikmets

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3253. doi:

Genetics April 2014

Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4 -Associated Retinopathies

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Mette Bertelsen; Jana Zernant; Michael Larsen; Morten Duno; Rando Allikmets; Thomas Rosenberg
TAGS: atrophy, mutation, phenotype, retinal diseases, genes, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2014; 55(4):2766-2776. doi: https://doi.org/10.1167/iovs.13-13391

ARVO Annual Meeting Abstract April 2014

(Neonatal) Retinoblastoma in the First Month of Life: Comparison of the Pre- and Post-Intraarterial Chemotherapy Era

Talia Rosenberg Kaden; Jasmine H Francis; Brian Marr; Scott E Brodie; Y. Pierre Gobin; David H Abramson

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6017. doi:

ARVO Annual Meeting Abstract June 2013

Exon 3 genotypes of OPN1LW/OPN1MW associated with X-linked congenital cone dysfunction

Susanne Kohl; Britta Baumann; Christian Hamel; Peter Gustavsson; Thomas Rosenberg; Astrid Plomp; Bart Leroy; Joke BGM Verheij; Bernd Wissinger; BCM Study Group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1320. doi:

Genetics March 2013

Association Mapping of the High-Grade Myopia MYP3 Locus Reveals Novel Candidates UHRF1BP1L , PTPRR , and PPFIA2

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Felicia Hawthorne; Sheng Feng; Ravikanth Metlapally; Yi-Ju Li; Khanh-Nhat Tran-Viet; Jeremy A. Guggenheim; Francois Malecaze; Patrick Calvas; Thomas Rosenberg; David A. Mackey; Cristina Venturini; Pirro G. Hysi; Christopher J. Hammond; Terri L. Young
TAGS: cohort studies, genes, myopia, single nucleotide polymorphism, body tissue, candidate disease gene, adult, genome, fetus
Invest. Ophthalmol. Vis. Sci.. 2013; 54(3):2076-2086. doi: https://doi.org/10.1167/iovs.12-11102

Includes: Supplemental Content

Letters to the Editor September 2012

Author Response: Nonspecific PCR Amplification of CRYBB2 -Pseudogene Leads to Misconception of Natural Variation as Mutation

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Lars Hansen; Thomas Rosenberg
TAGS: amplification, misconceptions, mutation, polymerase chain reaction, pseudogenes
Invest. Ophthalmol. Vis. Sci.. 2012; 53(10):6666. doi: https://doi.org/10.1167/iovs.12-10751

ARVO Annual Meeting Abstract March 2012

Outcome of cataract surgery in patients with Retinitis Pigmentosa

Line Kessel; Mette Bertelsen; Thomas Rosenberg; Gøril Boberg-Ans; Michael Larsen

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):2286. doi:

ARVO Annual Meeting Abstract March 2012

Prevalence and genetic characteristics of Generalized Retinal Dystrophy in Danish children

Mette Bertelsen; Hanne Jensen; Michael Larsen; Thomas Rosenberg

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4569. doi:

ARVO Annual Meeting Abstract March 2012

Mitochondrial Dynamics in the Photoreceptors of Hibernating Ground Squirrels

Talia J. Rosenberg; Adam I. Fogel; Richard J. Youle; Wei Li

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):767. doi:

Retina June 2011

Integrity of the Cone Photoreceptor Mosaic in Oligocone Trichromacy

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Michel Michaelides; Jungtae Rha; Elise W. Dees; Rigmor C. Baraas; Melissa L. Wagner-Schuman; John D. Mollon; Adam M. Dubis; Mette K. G. Andersen; Thomas Rosenberg; Michael Larsen; Anthony T. Moore; Joseph Carroll
TAGS: mosaicism, retinal cone, personal integrity
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4757-4764. doi: https://doi.org/10.1167/iovs.10-6659

ARVO Annual Meeting Abstract April 2011

Autosomal Recessive Posterior Microphthalmos/Nanophthalmos is Caused by Loss-of-function Mutations in LOC646960, a Novel Gene Encoding a Trypsin-like Serine Protease

Andreas Gal; I Rau; L El Matri; H-J Kreienkamp; F Munier; J Fuchs; H C. Fledelius; K Vilhelmsen; D A. Thompson; T Rosenberg

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1638. doi:

ARVO Annual Meeting Abstract April 2011

Prevalence, Phenotype and Genotype Spectrum of Vitelliform Macular Dystrophy In Denmark

Patrik S. Schatz; Hanna Bitner; Dror Sharon; Thomas Rosenberg

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):2389. doi:

ARVO Annual Meeting Abstract April 2011

Cone Density And Color Discrimination In Oligocone Trichromacy

Rigmor C. Baraas; Elise W. Dees; Jungtae Rha; Joseph Carroll; Mette K. Andersen; Thomas Rosenberg; Michael Larsen

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3197. doi:

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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

Exome Sequence Analysis of 14 High-Grade Myopia Families

Exome Sequence Analysis of 14 Families With High Myopia

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

Whole Exome Sequencing Identifies a Rare Variant Co-segregating with High Myopia

Prevalence and Genetics of Leber Hereditary Optic Neuropathy in the Danish Population

Analysis of the entire ABCA4 genomic locus in Stargardt disease patients in search for missing mutations

Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4 -Associated Retinopathies

(Neonatal) Retinoblastoma in the First Month of Life: Comparison of the Pre- and Post-Intraarterial Chemotherapy Era

Exon 3 genotypes of OPN1LW/OPN1MW associated with X-linked congenital cone dysfunction

Association Mapping of the High-Grade Myopia MYP3 Locus Reveals Novel Candidates UHRF1BP1L , PTPRR , and PPFIA2

Author Response: Nonspecific PCR Amplification of CRYBB2 -Pseudogene Leads to Misconception of Natural Variation as Mutation

Outcome of cataract surgery in patients with Retinitis Pigmentosa

Prevalence and genetic characteristics of Generalized Retinal Dystrophy in Danish children

Mitochondrial Dynamics in the Photoreceptors of Hibernating Ground Squirrels

Integrity of the Cone Photoreceptor Mosaic in Oligocone Trichromacy

Autosomal Recessive Posterior Microphthalmos/Nanophthalmos is Caused by Loss-of-function Mutations in LOC646960, a Novel Gene Encoding a Trypsin-like Serine Protease

Prevalence, Phenotype and Genotype Spectrum of Vitelliform Macular Dystrophy In Denmark

Cone Density And Color Discrimination In Oligocone Trichromacy

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