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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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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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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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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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
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa
Sullivan, Lori S, Koboldt, Daniel C, Bowne, Sara J, Lang, Steven, Blanton, Susan H, Cadena, Elizabeth, Avery, Cheryl E, Lewis, Richard A, Webb-Jones, Kaylie, Wheaton, Dianna H, Birch, David G, Coussa, Razck, Ren, Huanan, Lopez, Irma, Chakarova, Christina, Koenekoop, Robert K, Garcia, Charles A, Fulton, Robert S, Wilson, Richard K, Weinstock, George M, Daiger, Stephen P
Published in Investigative ophthalmology & visual science (04.09.2014)
Published in Investigative ophthalmology & visual science (04.09.2014)
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Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach
de Bruijn, Suzanne E, Panneman, Daan M, Weisschuh, Nicole, Cadena, Elizabeth L, Boonen, Erica G M, Holtes, Lara K, Astuti, Galuh D N, Cremers, Frans P M, Leijsten, Nico, Corominas, Jordi, Gilissen, Christian, Skowronska, Anna, Woodley, Jessica, Beggs, Andrew D, Toulis, Vasileios, Chen, Di, Cheetham, Michael E, Hardcastle, Alison J, McLaren, Terri L, Lamey, Tina M, Thompson, Jennifer A, Chen, Fred K, de Roach, John N, Urwin, Isabella R, Sullivan, Lori S, Roosing, Susanne
Published in Frontiers in genetics (23.10.2024)
Published in Frontiers in genetics (23.10.2024)
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Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
Yamashita, Tetsuji, Liu, Jiewu, Gao, Jiangang, LeNoue, Sean, Wang, Changguan, Kaminoh, Jack, Bowne, Sara J, Sullivan, Lori S, Daiger, Stephen P, Zhang, Kang, Fitzgerald, Malinda E. C, Kefalov, Vladimir J, Zuo, Jian
Published in The Journal of neuroscience (05.08.2009)
Published in The Journal of neuroscience (05.08.2009)
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Journal Article
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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Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance
KÖHN, Linda, BOWNE, Sara J, SULLIVAN, Lori S, DAIGER, Stephen P, BURSTEDT, Marie S. I, KADZHAEV, Konstantin, SANDGREN, Ola, GOLOVLEVA, Irina
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
Sohocki, Melanie M., Daiger, Stephen P., Bowne, Sara J., Rodriquez, Joseph A., Northrup, Hope, Heckenlively, John R., Birch, David G., Mintz-Hittner, Helen, Ruiz, Richard S., Lewis, Richard A., Saperstein, David A., Sullivan, Lori S.
Published in Human mutation (2001)
Published in Human mutation (2001)
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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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Progressive Photoreceptor Degeneration, Outer Segment Dysplasia, and Rhodopsin Mislocalization in Mice with Targeted Disruption of the Retinitis Pigmentosa-1 (Rp1) Gene
Gao, Jiangang, Cheon, Kyeongmi, Nusinowitz, Steven, Liu, Qin, Bei, Di, Atkins, Karen, Azimi, Asif, Daiger, Stephen P., Farber, Debora B., Heckenlively, John R., Pierce, Eric A., Sullivan, Lori S., Zuo, Jian
Published in Proceedings of the National Academy of Sciences - PNAS (16.04.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (16.04.2002)
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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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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
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
Sullivan, Lori S, Heckenlively, John R, Bowne, Sara J, Zuo, Jian, Hide, Winston A, Gal, Andreas, Denton, Michael, Inglehearn, Chris F, Blanton, Susan H, Daiger, Stephen P
Published in Nature genetics (01.07.1999)
Published in Nature genetics (01.07.1999)
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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)
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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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