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1.

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas, Pooja; Villanueva, Adda L; Soto-Hermida, Angel; Duncan, Jacque L; Matsui, Hiroko; Borooah, Shyamanga; Kurmanov, Berzhan; Richard, Gabriele; Khan, Shahid Y; Branham, Kari; Huang, Bonnie; Suk, John; Bakall, Benjamin; Goldberg, Jeffrey L; Gabriel, Luis; Khan, Naheed W; Raghavendra, Pongali B; Zhou, Jason; Devalaraja, Sindhu; Huynh, Andrew; Alapati, Akhila; Zawaydeh, Qais; Weleber, Richard G; Heckenlively, John R; Hejtmancik, J Fielding; Riazuddin, Sheikh; Sieving, Paul A; Riazuddin, S Amer; Frazer, Kelly A; Ayyagari, Radha.

PLoS Genet; 17(10): e1009848, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34662339

2.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Català-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R; Jacobson, Samuel G; Jones, Kaylie; Jägle, Herbert; Janecke, Andreas R; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, André; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S; de Ravel, Thomy J L; Reiff, Charlotte M; Renner, Agnes B; Rosenberg, Thomas; Rudolph, Günther; Salati, Roberto; Sener, E Cumhur; Sieving, Paul A; Stanzial, Franco; Traboulsi, Elias I; Tsang, Stephen H; Varsanyi, Balázs; Weleber, Richard G; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd.

Hum Mutat; 43(7): 832-858, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35332618

3.

Rs1h^-/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation.

Zeng, Yong; Qian, Haohua; Campos, Maria Mercedes; Li, Yichao; Vijayasarathy, Camasamudram; Sieving, Paul A.

Gene Ther; 29(7-8): 431-440, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-34548657

4.

X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.

Hahn, Leo C; van Schooneveld, Mary J; Wesseling, Nieneke L; Florijn, Ralph J; Ten Brink, Jacoline B; Lissenberg-Witte, Birgit I; Strubbe, Ine; Meester-Smoor, Magda A; Thiadens, Alberta A; Diederen, Roselie M; van Cauwenbergh, Caroline; de Zaeytijd, Julie; Walraedt, Sophie; de Baere, Elfride; Klaver, Caroline C W; Ossewaarde-van Norel, Jeannette; van den Born, L Ingeborgh; Hoyng, Carel B; van Genderen, Maria M; Sieving, Paul A; Leroy, Bart P; Bergen, Arthur A; Boon, Camiel J F.

Ophthalmology; 129(2): 191-202, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34624300

5.

Immune function in X-linked retinoschisis subjects in an AAV8-RS1 phase I/IIa gene therapy trial.

Mishra, Alaknanda; Vijayasarathy, Camasamudram; Cukras, Catherine A; Wiley, Henry E; Sen, H Nida; Zeng, Yong; Wei, Lisa L; Sieving, Paul A.

Mol Ther; 29(6): 2030-2040, 2021 06 02.

Artículo en Inglés | MEDLINE | ID: mdl-33601057

6.

MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration.

Keenan, Tiarnan D L; Vanderford, Elliott K; de Silva, Tharindu; Sieving, Paul A; Cukras, Catherine A.

Retina; 41(11): 2236-2245, 2021 Nov 01.

Artículo en Inglés | MEDLINE | ID: mdl-33990119

7.

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li, Lin; Jiao, Xiaodong; D'Atri, Ilaria; Ono, Fumihito; Nelson, Ralph; Chan, Chi-Chao; Nakaya, Naoki; Ma, Zhiwei; Ma, Yan; Cai, Xiaoying; Zhang, Longhua; Lin, Siying; Hameed, Abdul; Chioza, Barry A; Hardy, Holly; Arno, Gavin; Hull, Sarah; Khan, Muhammad Imran; Fasham, James; Harlalka, Gaurav V; Michaelides, Michel; Moore, Anthony T; Coban Akdemir, Zeynep Hande; Jhangiani, Shalini; Lupski, James R; Cremers, Frans P M; Qamar, Raheel; Salman, Ahmed; Chilton, John; Self, Jay; Ayyagari, Radha; Kabir, Firoz; Naeem, Muhammad Asif; Ali, Muhammad; Akram, Javed; Sieving, Paul A; Riazuddin, Sheikh; Baple, Emma L; Riazuddin, S Amer; Crosby, Andrew H; Hejtmancik, J Fielding.

PLoS Genet; 14(8): e1007504, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-30157172

8.

AAVrh-10 transduces outer retinal cells in rodents and rabbits following intravitreal administration.

Zeng, Yong; Qian, Haohua; Wu, Zhijian; Marangoni, Dario; Sieving, Paul A; Bush, Ronald A.

Gene Ther; 26(9): 386-398, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31308478

9.

Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.

Cukras, Catherine; Wiley, Henry E; Jeffrey, Brett G; Sen, H Nida; Turriff, Amy; Zeng, Yong; Vijayasarathy, Camasamudram; Marangoni, Dario; Ziccardi, Lucia; Kjellstrom, Sten; Park, Tae Kwon; Hiriyanna, Suja; Wright, J Fraser; Colosi, Peter; Wu, Zhijian; Bush, Ronald A; Wei, Lisa L; Sieving, Paul A.

Mol Ther; 26(9): 2282-2294, 2018 09 05.

Artículo en Inglés | MEDLINE | ID: mdl-30196853

10.

Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina.

Tolun, Gökhan; Vijayasarathy, Camasamudram; Huang, Rick; Zeng, Yong; Li, Yan; Steven, Alasdair C; Sieving, Paul A; Heymann, J Bernard.

Proc Natl Acad Sci U S A; 113(19): 5287-92, 2016 May 10.

Artículo en Inglés | MEDLINE | ID: mdl-27114531

11.

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

Chekuri, Anil; Guru, Aditya A; Biswas, Pooja; Branham, Kari; Borooah, Shyamanga; Soto-Hermida, Angel; Hicks, Michael; Khan, Naheed W; Matsui, Hiroko; Alapati, Akhila; Raghavendra, Pongali B; Roosing, Susanne; Sarangapani, Sripriya; Mathavan, Sinnakaruppan; Telenti, Amalio; Heckenlively, John R; Riazuddin, S Amer; Frazer, Kelly A; Sieving, Paul A; Ayyagari, Radha.

Hum Genet; 137(6-7): 447-458, 2018 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-29978320

12.

Tissue engineering: NIH competition to create 'eye in a dish'.

Sieving, Paul A.

Nature; 546(7658): 352, 2017 06 14.

Artículo en Inglés | MEDLINE | ID: mdl-28617468

13.

Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.

Branham, Kari; Guru, Aditya A; Kozak, Igor; Biswas, Pooja; Othman, Mohammad; Kishaba, Kameron; Mansoor, Hassan; Riazuddin, Sheikh; Heckenlively, John R; Riazuddin, S Amer; Hejtmancik, J Fielding; Sieving, Paul A; Ayyagari, Radha.

Adv Exp Med Biol; 1074: 229-236, 2018.

Artículo en Inglés | MEDLINE | ID: mdl-29721948

14.

A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration.

Wu, Zhijian; Hiriyanna, Suja; Qian, Haohua; Mookherjee, Suddhasil; Campos, Maria M; Gao, Chun; Fariss, Robert; Sieving, Paul A; Li, Tiansen; Colosi, Peter; Swaroop, Anand.

Hum Mol Genet; 24(14): 3956-70, 2015 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-25877300

15.

Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

Branham, Kari; Matsui, Hiroko; Biswas, Pooja; Guru, Aditya A; Hicks, Michael; Suk, John J; Li, He; Jakubosky, David; Long, Tao; Telenti, Amalio; Nariai, Naoki; Heckenlively, John R; Frazer, Kelly A; Sieving, Paul A; Ayyagari, Radha.

Physiol Genomics; 48(12): 922-927, 2016 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-27764769

16.

LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.

Cukras, Catherine; Flamendorf, Jason; Wong, Wai T; Ayyagari, Radha; Cunningham, Denise; Sieving, Paul A.

Retina; 36(12): 2348-2356, 2016 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-27388725

17.

The NIH Blueprint for Neuroscience Research Seeks Community Input on Future Neuroscience Investments.

Mott, Meghan C; Austin, Christopher P; Bianchi, Diana W; Cashion, Ann K; Gordon, Joshua A; Heemskerk, Jill E; Hodes, Richard J; Koob, George F; Riley, William T; Sieving, Paul A; Shurtleff, David; Somerman, Martha J; Volkow, Nora D; Anderson, Kathleen C; Owens, David F; Koroshetz, Walter J.

J Neurosci; 39(5): 774-775, 2019 01 30.

Artículo en Inglés | MEDLINE | ID: mdl-30700523

18.

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Sergeev, Yuri V; Vitale, Susan; Sieving, Paul A; Vincent, Ajoy; Robson, Anthony G; Moore, Anthony T; Webster, Andrew R; Holder, Graham E.

Hum Mol Genet; 22(23): 4756-67, 2013 Dec 01.

Artículo en Inglés | MEDLINE | ID: mdl-23847049

19.

Subjective and objective screening tests for hydroxychloroquine toxicity.

Cukras, Catherine; Huynh, Nancy; Vitale, Susan; Wong, Wai T; Ferris, Fredrick L; Sieving, Paul A.

Ophthalmology; 122(2): 356-66, 2015 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-25444344

20.

Neuroethics for the National Institutes of Health BRAIN Initiative.

Bianchi, Diana W; Cooper, Judith A; Gordon, Joshua A; Heemskerk, Jill; Hodes, Richard; Koob, George F; Koroshetz, Walter J; Shurtleff, David; Sieving, Paul A; Volkow, Nora D; Churchill, James D; Ramos, Khara M.

J Neurosci; 38(50): 10583-10585, 2018 12 12.

Artículo en Inglés | MEDLINE | ID: mdl-30541766

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