Eliot L. Berson - Publications, H-index & Citations

Eliot L. Berson

Harvard University

75H指数

333论文数

2.2W被引数

收录论文 53

发表时间

Visual Function in Carriers of X-Linked Retinitis Pigmentosa

OPHTHALMOLOGY

IF9.5

2015-09-01

OAAI

Comander, Jason; Weigel-DiFranco, Carol; Sandberg, Michael A.; Berson, Eliot L.

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry

GENETICS IN MEDICINE

IF6.2

2015-04-01

OAAI

Venturini, Giulia; Koskiniemi-Kuendig, Hanna; Harper, Shyana; Berson, Eliot L.; Rivolta, Carlo

Targeted Exon Sequencing in Usher Syndrome Type I

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2014-12-02

OAAI

Bujakowska, Kinga M.; Consugar, Mark; Place, Emily; Harper, Shyana; Lena, Jaclyn; Taub, Daniel G.; White, Joseph; Navarro-Gomez, Daniel; DiFranco, Carol Weigel; Farkas, Michael H.; Gai, Xiaowu; Berson, Eliot L.; Pierce, Eric A.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations (vol 34, pg 1537, 2013)

HUMAN MUTATION

IF3.7

2013-10-30

PREAI

Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de Baere, Elfride; Bennett, Jean; Chader, Gerald J.; Berger, Wolfgang; Golovleva, Irina; Greenberg, Jacquie; den Hollander, Anneke I.; Klaver, Caroline C. W.; Klevering, B. Jeroen; Lorenz, Birgit; Preising, Markus N.; Ramesar, Raj; Roberts, Lisa; Roepman, Ronald; Rohrschneider, Klaus; Wissinger, Bernd; Qamar, Raheel; Webster, Andrew R.; Cremers, Frans P. M.; Moore, Anthony T.; Koenekoop, Robert K.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations

HUMAN MUTATION

IF3.7

2013-09-17

OAAI

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2013-09-16

113

OAAI

Nishiguchi, Koji M.; Tearle, Richard G.; Liu, Yangfan P.; Ohd, Edwin C.; Miyake, Noriko; Benaglio, Paola; Harper, Shyana; Koskiniemi-Kuendig, Hanna; Venturini, Giulia; Sharon, Dror; Koenekoop, Robert K.; Nakamura, Makoto; Kondo, Mineo; Ueno, Shinji; Yasuma, Tetsuhiro R.; Beckmann, Jacques S.; Ikegawa, Shiro; Matsumoto, Naomichi; Terasaki, Hiroko; Berson, Eliot L.; Katsanis, Nicholas; Rivolta, Carlo

NMNAT1 mutations cause Leber congenital amaurosis

NATURE GENETICS

IF31.8

2012-07-29

169

OAAI

Falk, Marni J.; Zhang, Qi; Nakamaru-Ogiso, Eiko; Kannabiran, Chitra; Fonseca-Kelly, Zoe; Chakarova, Christina; Audo, Isabelle; Mackay, Donna S.; Zeitz, Christina; Borman, Arundhati Dev; Staniszewska, Magdalena; Shukla, Rachna; Palavalli, Lakshmi; Mohand-Said, Saddek; Waseem, Naushin H.; Jalali, Subhadra; Perin, Juan C.; Place, Emily; Ostrovsky, Julian; Xiao, Rui; Bhattacharya, Shomi S.; Consugar, Mark; Webster, Andrew R.; Sahel, Jose-Alain; Moore, Anthony T.; Berson, Eliot L.; Liu, Qin; Gai, Xiaowu; Pierce, Eric A.

Histopathology and Functional Correlations in a Patient with a Mutation in RPE65, the Gene for Retinol Isomerase

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2011-10-27

OAAI

Bonilha, Vera L.; Rayborn, Mary E.; Li, Yong; Grossman, Gregory H.; Berson, Eliot L.; Hollyfield, Joe G.

Molecular Analysis of Bardet-Biedl Syndrome Families: Report of 21 Novel Mutations in 10 Genes

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2011-07-18

OAAI

Chen, Jianjun; Smaoui, Nizar; Hammer, Monia Ben Hamed; Jiao, Xiaodong; Riazuddin, S. Amer; Harper, Shyana; Katsanis, Nicholas; Riazuddin, Sheikh; Chaabouni, Habiba; Berson, Eliot L.; Hejtmancik, J. Fielding

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2011-05-01

110

OAAI

Tanackovic, Goranka; Ransijn, Adriana; Ayuso, Carmen; Harper, Shyana; Berson, Eliot L.; Rivolta, Carlo

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

HUMAN MOLECULAR GENETICS

IF3.2

2011-03-05

116

OAAI

Tanackovic, Goranka; Ransijn, Adriana; Thibault, Philippe; Abou Elela, Sherif; Klinck, Roscoe; Berson, Eliot L.; Chabot, Benoit; Rivolta, Carlo

Next Generation Sequencing of Pooled Samples Reveals New SNRNP200 Mutations Associated with Retinitis Pigmentosa 合并样本的下一代测序揭示了与色素性视网膜炎相关的新SNRNP200突变

HUMAN MUTATION

IF3.7

2011-02-24

OAAI

Benaglio, Paola; McGee, Terri L.; Capelli, Leonardo P.; Harper, Shyana; Berson, Eliot L.; Rivolta, Carlo

The Relationship of Macular Pigment Optical Density to Serum Lutein in Retinitis Pigmentosa

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2010-02-01

OAAI

Sandberg, Michael A.; Johnson, Elizabeth J.; Berson, Eliot L.

Progressive hydroxychloroquine toxicity mimicking low-tension glaucoma after discontinuation of the drug

ACTA OPHTHALMOLOGICA

IF2.8

2010-01-28

OAAI

Vavvas, Demetrios; Huynh, Nancy; Pasquale, Louis; Berson, Eliot L.

A Single-Base Substitution within an Intronic Repetitive Element Causes Dominant Retinitis Pigmentosa with Reduced Penetrance

HUMAN MUTATION

IF3.7

2009-09-01

OAAI

Frio, Thomas Rio; McGee, Terri L.; Wade, Nicholas M.; Iseli, Christian; Beckmann, Jacques S.; Berson, Eliot L.; Rivolta, Carlo

A Homozygous Missense Mutation in the IRBP Gene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2009-04-01

OAAI

den Hollander, Anneke I.; McGee, Terri L.; Ziviello, Carmela; Banfi, Sandro; Dryja, Thaddeus P.; Gonzalez-Fernandez, Federico; Ghosh, Debashis; Berson, Eliot L.

Disease Course in Patients with Autosomal Recessive Retinitis Pigmentosa due to the USH2A Gene

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2008-12-01

OAAI

Sandberg, Michael A.; Rosner, Bernard; Weigel-DiFranco, Carol; McGee, Terri L.; Dryja, Thaddeus P.; Berson, Eliot L.

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2008-04-01

OAAI

Frio, Thomas Rio; Wade, Nicholas M.; Ransijn, Adriana; Berson, Eliot L.; Beckmann, Jacques S.; Rivolta, Carlo