Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa
Daiger, Stephen P, Bowne, Sara J, Sullivan, Lori S
Published in Cold Spring Harbor perspectives in medicine (01.10.2015)
Published in Cold Spring Harbor perspectives in medicine (01.10.2015)
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Journal Article
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa
Strom, Samuel P, Clark, Michael J, Martinez, Ariadna, Garcia, Sarah, Abelazeem, Amira A, Matynia, Anna, Parikh, Sachin, Sullivan, Lori S, Bowne, Sara J, Daiger, Stephen P, Gorin, Michael B
Published in PloS one (10.03.2016)
Published in PloS one (10.03.2016)
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Journal Article
α satellite DNA variation and function of the human centromere
Sullivan, Lori L., Chew, Kimberline, Sullivan, Beth A.
Published in Nucleus (Austin, Tex.) (04.07.2017)
Published in Nucleus (Austin, Tex.) (04.07.2017)
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Journal Article
History of Finding Genes and Mutations Causing Inherited Retinal Diseases
Daiger, Stephen P, Sullivan, Lori S, Cadena, Elizabeth L, Bowne, Sara J
Published in Cold Spring Harbor perspectives in medicine (03.09.2024)
Published in Cold Spring Harbor perspectives in medicine (03.09.2024)
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Journal Article
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations
Fahim, Abigail T, Bowne, Sara J, Sullivan, Lori S, Webb, Kaylie D, Williams, Jessica T, Wheaton, Dianna K, Birch, David G, Daiger, Stephen P
Published in PloS one (12.08.2011)
Published in PloS one (12.08.2011)
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Journal Article
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
Churchill, Jennifer D, Bowne, Sara J, Sullivan, Lori S, Lewis, Richard Alan, Wheaton, Dianna K, Birch, David G, Branham, Kari E, Heckenlively, John R, Daiger, Stephen P
Published in Investigative ophthalmology & visual science (19.02.2013)
Published in Investigative ophthalmology & visual science (19.02.2013)
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Journal Article
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Buentello-Volante, Beatriz, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui
Published in Human genetics (01.03.2014)
Published in Human genetics (01.03.2014)
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Journal Article
Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders
Koboldt, Daniel C., Larson, David E., Sullivan, Lori S., Bowne, Sara J., Steinberg, Karyn M., Churchill, Jennifer D., Buhr, Aimee C., Nutter, Nathan, Pierce, Eric A., Blanton, Susan H., Weinstock, George M., Wilson, Richard K., Daiger, Stephen P.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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Journal Article
Genomic size of CENP-A domain is proportional to total alpha satellite array size at human centromeres and expands in cancer cells
Sullivan, Lori L., Boivin, Christopher D., Mravinac, Brankica, Song, Ihn Young, Sullivan, Beth A.
Published in Chromosome research (01.05.2011)
Published in Chromosome research (01.05.2011)
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Journal Article
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families
Jones, Kaylie D, Wheaton, Dianna K, Bowne, Sara J, Sullivan, Lori S, Birch, David G, Chen, Rui, Daiger, Stephen P
Published in Molecular vision (20.07.2017)
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Published in Molecular vision (20.07.2017)
Journal Article
A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa
Riazuddin, S. Amer, Iqbal, Muhammad, Wang, Yue, Masuda, Tomohiro, Chen, Yuhng, Bowne, Sara, Sullivan, Lori S., Waseem, Naushin H., Bhattacharya, Shomi, Daiger, Stephen P., Zhang, Kang, Khan, Shaheen N., Riazuddin, Sheikh, Hejtmancik, J. Fielding, Sieving, Paul A., Zack, Donald J., Katsanis, Nicholas
Published in American journal of human genetics (14.05.2010)
Published in American journal of human genetics (14.05.2010)
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Journal Article
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa
Sullivan, Lori S, Bowne, Sara J, Reeves, Melissa J, Blain, Delphine, Goetz, Kerry, Ndifor, Vida, Vitez, Sally, Wang, Xinjing, Tumminia, Santa J, Daiger, Stephen P
Published in Investigative ophthalmology & visual science (19.09.2013)
Published in Investigative ophthalmology & visual science (19.09.2013)
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Journal Article
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
Sullivan, Lori S, Bowne, Sara J, Koboldt, Daniel C, Cadena, Elizabeth L, Heckenlively, John R, Branham, Kari E, Wheaton, Dianna H, Jones, Kaylie D, Ruiz, Richard S, Pennesi, Mark E, Yang, Paul, Davis-Boozer, David, Northrup, Hope, Gurevich, Vsevold V, Chen, Rui, Xu, Mingchu, Li, Yumei, Birch, David G, Daiger, Stephen P
Published in Investigative ophthalmology & visual science (01.05.2017)
Published in Investigative ophthalmology & visual science (01.05.2017)
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Journal Article