Works matching AU Jacobson, Samuel G.

Results: 82

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

Published in:

2007

By:

Aguirre, Geoffrey K.;
Komáromy, András M.;
Cideciyan, Artur V.;
Brainard, David H.;
Aleman, Tomas S.;
Roman, Alejandro J.;
Avants, Brian B.;
Gee, James C.;
Korczykowski, Marc;
Hauswirth, William W.;
Acland, Gregory M.;
Aguirre, Gustavo D.;
Jacobson, Samuel G.;
Komáromy, András M

Publication type:

journal article

Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness.

Published in:

2006

By:

Williams, Melissa L.;
Coleman, Jason E.;
Haire, Shannon E.;
Aleman, Tomas S.;
Cideciyan, Artur V.;
Sokal, Izabel;
Palczewski, Krzysztof;
Jacobson, Samuel G.;
Semple-Rowland, Susan L.

Publication type:

journal article

Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.

Published in:

Human Mutation, 2020, v. 41, n. 1, p. 255, doi. 10.1002/humu.23920

By:

Weisschuh, Nicole;
Sturm, Marc;
Baumann, Britta;
Audo, Isabelle;
Ayuso, Carmen;
Bocquet, Beatrice;
Branham, Kari;
Brooks, Brian P.;
Catalá‐Mora, Jaume;
Giorda, Roberto;
Heckenlively, John R.;
Hufnagel, Robert B.;
Jacobson, Samuel G.;
Kellner, Ulrich;
Kitsiou‐Tzeli, Sofia;
Matet, Alexandre;
Martorell Sampol, Loreto;
Meunier, Isabelle;
Rudolph, Günther;
Sharon, Dror

Publication type:

Article

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Published in:

Human Mutation, 2019, v. 40, n. 8, p. 1145, doi. 10.1002/humu.23768

By:

Felden, Julia;
Baumann, Britta;
Ali, Manir;
Audo, Isabelle;
Ayuso, Carmen;
Bocquet, Beatrice;
Casteels, Ingele;
Garcia‐Sandoval, Blanca;
Jacobson, Samuel G.;
Jurklies, Bernhard;
Kellner, Ulrich;
Kessel, Line;
Lorenz, Birgit;
McKibbin, Martin;
Meunier, Isabelle;
Ravel, Thomy;
Rosenberg, Thomas;
Rüther, Klaus;
Vadala, Maria;
Wissinger, Bernd

Publication type:

Article

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Published in:

Human Mutation, 2011, v. 32, n. 6, p. 610, doi. 10.1002/humu.21480

By:

Deveault, Catherine;
Billingsley, Gail;
Duncan, Jacque L.;
Bin, Jenea;
Theal, Rebecca;
Vincent, Ajoy;
Fieggen, Karen J.;
Gerth, Christina;
Noordeh, Nima;
Traboulsi, Elias I.;
Fishman, Gerald A.;
Chitayat, David;
Knueppel, Tanja;
Millán, José M.;
Munier, Francis L.;
Kennedy, Debra;
Jacobson, Samuel G.;
Innes, A. Micheil;
Mitchell, Grant A.;
Boycott, Kym

Publication type:

Article

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.

Published in:

Human Mutation, 2010, v. 31, n. 7, p. 830, doi. 10.1002/humu.21283

By:

Koeppen, Katja;
Reuter, Peggy;
Ladewig, Thomas;
Kohl, Susanne;
Baumann, Britta;
Jacobson, Samuel G.;
Plomp, Astrid S.;
Hamel, Christian P.;
Janecke, Andreas R.;
Wissinger, Bernd

Publication type:

Article

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1074, doi. 10.1002/humu.20565

By:

Cideciyan, Artur V.;
Aleman, Tomas S.;
Jacobson, Samuel G.;
Khanna, Hemant;
Sumaroka, Alexander;
Aguirre, Geoffrey K.;
Schwartz, Sharon B.;
Windsor, Elizabeth A.M.;
He, Shirley;
Chang, Bo;
Stone, Edwin M.;
Swaroop, Anand

Publication type:

Article

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9285

By:

Wright, Alan F.;
Reddick, Adam C.;
Schwartz, Sharon B.;
Ferguson, Julie S.;
Aleman, Tomas S.;
Kellner, Ulrich;
Jurklies, Bernhard;
Schuster, Andreas;
Zrenner, Eberhart;
Wissinger, Bernd;
Lennon, Alan;
Shu, Xinhua;
Cideciyan, Artur V.;
Stone, Edwin M.;
Jacobson, Samuel G.;
Swaroop, Anand

Publication type:

Article

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.

Published in:

Human Mutation, 2001, v. 18, n. 2, p. 164, doi. 10.1002/humu.1168

By:

Simovich, Marcia J.;
Miller, Beverly;
Ezzeldin, Hany;
Kirkland, Bryan T.;
McLeod, Genevieve;
Fulmer, Chere;
Nathans, Jeremy;
Jacobson, Samuel G.;
Pittler, Steven J.

Publication type:

Article

Analysis of phosducin as a candidate gene for retinopathies.

Published in:

Ophthalmic Genetics, 1996, v. 17, n. 1, p. 3, doi. 10.3109/13816819609057863

By:

Ara-iwata, Fumino;
Jacobson, Samuel G.;
Gass, J. Donald M.;
Hotta, Yoshihiro;
Fujiki, Keiko;
Hayakawa, Mutsuko;
Inana, George

Publication type:

Article

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

Published in:

Genes, 2017, v. 8, n. 7, p. 178, doi. 10.3390/genes8070178

By:

McGuigan, David B.;
Heon, Elise;
Cideciyan, Artur V.;
Ratnapriya, Rinki;
Lu, Monica;
Sumaroka, Alexander;
Roman, Alejandro J.;
Batmanabane, Vaishnavi;
Garafalo, Alexandra V.;
Stone, Edwin M.;
Swaroop, Anand;
Jacobson, Samuel G.

Publication type:

Article

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 812, doi. 10.1038/ejhg.2008.23

By:

Kitiratschky, Veronique B. D.;
Grau, Tanja;
Bernd, Antje;
Zrenner, Eberhart;
Jägle, Herbert;
Renner, Agnes B.;
Kellner, Ulrich;
Rudolph, Günther;
Jacobson, Samuel G.;
Cideciyan, Artur V.;
Schaich, Simone;
Kohl, Susanne;
Wissinger, Bernd

Publication type:

Article

CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 302, doi. 10.1038/sj.ejhg.5201269

By:

Kohl, Susanne;
Varsanyi, Balazs;
Antunes, Gesine Abadin;
Baumann, Britta;
Hoyng, Carel B.;
Jägle, Herbert;
Rosenberg, Thomas;
Kellner, Ulrich;
Lorenz, Birgit;
Salati, Roberto;
Jurklies, Bernhard;
Farkas, Agnes;
Andreasson, Sten;
Weleber, Richard G.;
Jacobson, Samuel G.;
Rudolph, Günther;
Castellan, Claudio;
Dollfus, Helene;
Legius, Eric;
Anastasi, Mario

Publication type:

Article

Lifespan and mitochondrial control of neurodegeneration.

Published in:

Nature Genetics, 2004, v. 36, n. 11, p. 1153, doi. 10.1038/ng1448

By:

Wright, Alan F.;
Jacobson, Samuel G.;
Cideciyan, Artur V.;
Roman, Alejandro J;
Shu, Xinhua;
Vlachantoni, Dafni;
McInnes, Roderick R.;
Riemersma, Rudolph A.

Publication type:

Article

Blinded by the light.

Published in:

Nature Genetics, 2002, v. 32, n. 2, p. 215, doi. 10.1038/ng1002-215

By:

Jacobson, Samuel G.;
McInnes, Roderick R.

Publication type:

Article

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Published in:

Nature Genetics, 2002, v. 31, n. 4, p. 435, doi. 10.1038/ng935

By:

Mykytyn, Kirk;
Nishimura, Darryl Y.;
Searby, Charles C.;
Shastri, Mythreyi;
Yen, Hsan-jan;
Beck, John S.;
Braun, Terry;
Streb, Luan M.;
Cornier, Alberto S.;
Cox, Gerald F.;
Fulton, Anne B.;
Carmi, Rivka;
Lüleci, Güven;
Chandrasekharappa, Settara C.;
Collins, Francis S.;
Jacobson, Samuel G.;
Heckenlively, John R.;
Weleber, Richard G.;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Published in:

Nature Genetics, 2001, v. 28, n. 2, p. 188, doi. 10.1038/88925

By:

Mykytyn, Kirk;
Braun, Terry;
Carmi, Rivka;
Haider, Neena B.;
Searby, Charles C.;
Shastri, Mythreyi;
Beck, Gretel;
Wright, Alan F.;
Iannaccone, Alessandro;
Elbedour, Khalil;
Riise, Ruth;
Baldi, Alfonso;
Raas-Rothschild, Annick;
Gorman, Susan W.;
Duhl, David M.;
Jacobson, Samuel G.;
Casavant, Thomas;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Gene therapy restores vision in a canine model of childhood blindness.

Published in:

Nature Genetics, 2001, v. 28, n. 1, p. 92, doi. 10.1038/88327

By:

Acland, Gregory M.;
Aguirre, Gustavo D.;
Ray, Jharna;
Zhang, Qi;
Aleman, Tomas S.;
Cideciyan, Artur V.;
Pearce-Kelling, Susan E.;
Anand, Vibha;
Zeng, Yong;
Maguire, Albert M.;
Jacobson, Samuel G.;
Hauswirth, William W.;
Bennett, Jean

Publication type:

Article

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 270, doi. 10.1038/81555

By:

Gal, Andreas;
Li, Yun;
Thompson, Debra A.;
Weir, Jessica;
Orth, Ulrike;
Jacobson, Samuel G.;
Apfelstedt-Sylla, Eckart;
Vollrath, Douglas

Publication type:

Article

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 319, doi. 10.1038/81619

By:

Bech-Hansen, N.Torben;
Naylor, Margaret J.;
Maybaum, Tracy A.;
Sparkes, Rebecca L.;
Koop, Ben;
Birch, David G.;
Bergen, Arthur A.B.;
Prinsen, Clemens F.M.;
Polomeno, Robert C.;
Gal, Andreas;
Drack, Arlene V.;
Musarella, Maria A.;
Jacobson, Samuel G.;
Young, Rockefeller S.L.;
Weleber, Richard G.

Publication type:

Article

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Published in:

Nature Genetics, 2000, v. 24, n. 2, p. 127, doi. 10.1038/72777

By:

Haider, Neena B.;
Jacobson, Samuel G.;
Cideciyan, Artur V.;
Swiderski, Ruth;
Streb, Luan M.;
Searby, Charles;
Beck, Gretel;
Hockey, Robin;
Hanna, David B.;
Gorman, Susan;
Duhl, David;
Carmi, Rivka;
Bennett, Jean;
Weleber, Richard G.;
Fishman, Gerald A.;
Wright, Alan F.;
Stone, Edwin M.;
Sheffield, Val C.

Publication type:

Article

Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel.

Published in:

Nature Genetics, 1998, v. 19, n. 3, p. 257, doi. 10.1038/935

By:

Kohl, Susanne;
Marx, Tim;
Giddings, Ian;
Jägle, Herbert;
Jacobson, Samuel G.;
Apfelstedt-Sylla, Eckhart;
Zrenner, Eberhart;
Sharpe, Lindsay T.;
Wissinger, Bernd

Publication type:

Article

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0125700

By:

Luo, Xunda;
Cideciyan, Artur V.;
Iannaccone, Alessandro;
Roman, Alejandro J.;
Ditta, Lauren C.;
Jennings, Barbara J.;
Yatsenko, Svetlana A.;
Sheplock, Rebecca;
Sumaroka, Alexander;
Swider, Malgorzata;
Schwartz, Sharon B.;
Wissinger, Bernd;
Kohl, Susanne;
Jacobson, Samuel G.

Publication type:

Article

Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to <i>CEP290</i> Mutation: Determining the Timing and Expectation of Therapy.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092928

By:

Boye, Shannon E.;
Huang, Wei-Chieh;
Roman, Alejandro J.;
Sumaroka, Alexander;
Boye, Sanford L.;
Ryals, Renee C.;
Olivares, Melani B.;
Ruan, Qing;
Tucker, Budd A.;
Stone, Edwin M.;
Swaroop, Anand;
Cideciyan, Artur V.;
Hauswirth, William W.;
Jacobson, Samuel G.

Publication type:

Article

Canine Retina Has a Primate Fovea-Like Bouquet of Cone Photoreceptors Which Is Affected by Inherited Macular Degenerations.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090390

By:

Beltran, William A.;
Cideciyan, Artur V.;
Guziewicz, Karina E.;
Iwabe, Simone;
Swider, Malgorzata;
Scott, Erin M.;
Savina, Svetlana V.;
Ruthel, Gordon;
Stefano, Frank;
Zhang, Lingli;
Zorger, Richard;
Sumaroka, Alexander;
Jacobson, Samuel G.;
Aguirre, Gustavo D.

Publication type:

Article

Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration.

Published in:

PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027433

By:

Xinhua Shu;
Luhmann, Ulrich F. O.;
Aleman, Tomas S.;
Barker, Susan E.;
Lennon, Alan;
Tulloch, Brian;
Mei Chen;
Heping Xu;
Jacobson, Samuel G.;
Ali, Robin;
Wright, Alan F.

Publication type:

Article

Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration.

Published in:

FASEB Journal, 2011, v. 25, n. 9, p. 3157, doi. 10.1096/fj.11-186767

By:

Mustafi, Debarshi;
Kevany, Brian M.;
Genoud, Christel;
Okano, Kiichiro;
Cideciyan, Artur V.;
Sumaroka, Alexander;
Roman, Alejandro J.;
Jacobson, Samuel G.;
Engel, Andreas;
Adams, Mark D.;
Palczewski, Krzysztof

Publication type:

Article

Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor.

Published in:

2005

By:

Lebherz, Corinna;
Maguire, Albert M.;
Auricchio, Alberto;
Tang, Waixing;
Aleman, Tomas S.;
Wei, Zhangyong;
Grant, Rebecca;
Cideciyan, Artur V.;
Jacobson, Samuel G.;
Wilson, James M.;
Bennett, Jean

Publication type:

journal article

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 12, p. 732, doi. 10.1038/jhg.2009.107

By:

Yan, Denise;
Xiaomei Ouyang;
Patterson, D. Michael;
Li Lin Du;
Jacobson, Samuel G.;
Xue-Zhong Liu

Publication type:

Article

SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.

Published in:

Ophthalmic Genetics, 2016, v. 37, n. 3, p. 333, doi. 10.3109/13816810.2015.1130154

By:

Matsui, Rodrigo;
McGuigan III, David B.;
Gruzensky, Michaela L.;
Aleman, Tomas S.;
Schwartz, Sharon B.;
Sumaroka, Alexander;
Koenekoop, Robert K.;
Cideciyan, Artur V.;
Jacobson, Samuel G.

Publication type:

Article

A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.

Published in:

Ophthalmic Genetics, 2004, v. 25, n. 2, p. 133, doi. 10.1080/13816810490514388

By:

Zhenglin Yang;
Yang Li;
Li Jiang;
Karan, Goutam;
Moshfeghi, Darius M.;
O'Connor, Scott T.;
Xi Li;
Zhengya Yu;
Lewis, Hilel;
Zack, Donald J.;
Jacobson, Samuel G.;
Kang Zhang

Publication type:

Article

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3706, doi. 10.1093/hmg/ddaa269

By:

Moreno-Leon, Laura;
West, Emma L;
O'Hara-Wright, Michelle;
Li, Linjing;
Nair, Rohini;
He, Jie;
Anand, Manisha;
Sahu, Bhubanananda;
Chavali, Venkat Ramana Murthy;
Smith, Alexander J;
Ali, Robin R;
Jacobson, Samuel G;
Cideciyan, Artur V;
Khanna, Hemant

Publication type:

Article

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 175, doi. 10.1093/hmg/ddy342

By:

Charng, Jason;
Cideciyan, Artur V;
Jacobson, Samuel G;
Sumaroka, Alexander;
Schwartz, Sharon B;
Swider, Malgorzata;
Roman, Alejandro J;
Sheplock, Rebecca;
Anand, Manisha;
Peden, Marc C;
Khanna, Hemant;
Heon, Elise;
Wright, Alan F;
Swaroop, Anand

Publication type:

Article

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 12, p. 2218, doi. 10.1093/hmg/ddx111

By:

Veleri, Shobi;
Nellissery, Jacob;
Mishra, Bibhudatta;
Manjunath, Souparnika H.;
Brooks, Matthew J.;
Lijin Dong;
Kunio Nagashima;
Haohua Qian;
Chun Gao;
Sergeev, Yuri V.;
Xiu-Feng Huang;
Jia Qu;
Fan Lu;
Cideciyan, Artur V.;
Tiansen Li;
Zi-Bing Jin;
Fariss, Robert N.;
Ratnapriya, Rinki;
Jacobson, Samuel G.;
Swaroop, Anand

Publication type:

Article

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 1, p. 133, doi. 10.1093/hmg/ddw374

By:

Vocke, Farina;
Weisschuh, Nicole;
Marino, Valerio;
Malfatti, Silvia;
Jacobson, Samuel G.;
Reiff, Charlotte M.;
Dell'Orco, Daniele;
Koch, Karl-Wilhelm

Publication type:

Article

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 24, p. 5444, doi. 10.1093/hmg/ddw361

By:

Charng, Jason;
Cideciyan, Artur V.;
Jacobson, Samuel G.;
Sumaroka, Alexander;
Schwartz, Sharon B.;
Swider, Malgorzata;
Roman, Alejandro J.;
Sheplock, Rebecca;
Anand, Manisha;
Peden, Marc C.;
Khanna, Hemant;
Heon, Elise;
Wright, Alan F.;
Swaroop, Anand

Publication type:

Article

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 19, p. 4211, doi. 10.1093/hmg/ddw254

By:

Downs, Louise M.;
Scott, Erin M.;
Cideciyan, Artur V.;
Iwabe, Simone;
Dufour, Valerie;
Gardiner, Kristin L.;
Genini, Sem;
Marinho, Luis Felipe;
Sumaroka, Alexander;
Kosyk, Mychajlo S.;
Swider, Malgorzata;
Aguirre, Geoffrey K.;
Jacobson, Samuel G.;
Beltran, William A.;
Aguirre, Gustavo D.

Publication type:

Article

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3220, doi. 10.1093/hmg/ddv073

By:

Ning Zhang;
Tsybovsky, Yaroslav;
Kolesnikov, Alexander V.;
Rozanowska, Malgorzata;
Swider, Malgorzata;
Schwartz, Sharon B.;
Stone, Edwin M.;
Palczewska, Grazyna;
Maeda, Akiko;
Kefalov, Vladimir J.;
Jacobson, Samuel G.;
Cideciyan, Artur V.;
Palczewski, Krzysztof

Publication type:

Article

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5136, doi. 10.1093/hmg/ddt367

By:

Braun, Terry A.;
Mullins, Robert F.;
Wagner, Alex H.;
Andorf, Jeaneen L.;
Johnston, Rebecca M.;
Bakall, Benjamin B.;
Deluca, Adam P.;
Fishman, Gerald A.;
Lam, Byron L.;
Weleber, Richard G.;
Cideciyan, Artur V.;
Jacobson, Samuel G.;
Sheffield, Val C.;
Tucker, Budd A.;
Stone, Edwin M.

Publication type:

Article

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 168, doi. 10.1093/hmg/dds421

By:

Jacobson, Samuel G.;
Cideciyan, Artur V.;
Peshenko, Igor V.;
Sumaroka, Alexander;
Olshevskaya, Elena V.;
Cao, Lihui;
Schwartz, Sharon B.;
Roman, Alejandro J.;
Olivares, Melani B.;
Sadigh, Sam;
Yau, King-Wai;
Heon, Elise;
Stone, Edwin M.;
Dizhoor, Alexander M.

Publication type:

Article

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 4, p. 1233, doi. 10.1172/JCI60981

By:

Rachel, Rivka A.;
May-Simera, Helen L.;
Veleri, Shobi;
Gotoh, Norimoto;
Byung Yoon Choi;
Murga-Zamalloa, Carlos;
McIntyre, Jeremy C.;
Marek, Jonah;
Lopez, Irma;
Hackett, Alice N.;
Brooks, Matthew;
den Hollander, Anneke I.;
Beales, Philip L.;
Tiansen Li;
Jacobson, Samuel G.;
Sood, Raman;
Martens, Jeffrey R.;
Liu, Paul;
Friedman, Thomas B.;
Khanna, Hemant

Publication type:

Article

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Published in:

Human Genetics, 2005, v. 116, n. 4, p. 292, doi. 10.1007/s00439-004-1227-2

By:

Ouyang, Xiao Mei;
Yan, Denise;
Du, Li Lin;
Hejtmancik, J. Fielding;
Jacobson, Samuel G.;
Nance, Walter E.;
Li, An Ren;
Angeli, Simon;
Kaiser, Muriel;
Newton, Valerie;
Brown, Steve D. M.;
Balkany, Thomas;
Liu, Xue Zhong

Publication type:

Article

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Published in:

Scientific Reports, 2015, p. 13187, doi. 10.1038/srep13187

By:

Beryozkin, Avigail;
Shevah, Elia;
Kimchi, Adva;
Mizrahi-Meissonnier, Liliana;
Khateb, Samer;
Ratnapriya, Rinki;
Lazar, Csilla H.;
Blumenfeld, Anat;
Ben-Yosef, Tamar;
Hemo, Yitzhak;
Pe'er, Jacob;
Averbuch, Eduard;
Sagi, Michal;
Boleda, Alexis;
Gieser, Linn;
Zlotogorski, Abraham;
Falik-Zaccai, Tzipora;
Alimi-Kasem, Ola;
Jacobson, Samuel G.;
Chowers, Itay

Publication type:

Article

Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865

By:

Nishimura, Darryl Y.;
Searby, Charles C.;
Carmi, Rivka;
Elbedour, Khalil;
Maldergem, Lionel Van;
Fulton, Anne B.;
Lam, Byron L.;
Powell, Berkley R.;
Swiderski, Ruth E.;
Bugge, Kevin E.;
Haider, Neena B.;
Kwitek-Black, Anne E.;
Ying, Lihua;
Duhl, David M.;
Gorman, Susan W.;
Heon, Elise;
Iannaccone, Alessandro;
Bonneau, Dominique;
Biesecker, Leslie G.;
Jacobson, Samuel G.

Publication type:

Article

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865

By:

Nishimura, Darryl Y.;
Searby, Charles C.;
Carmi, Rivka;
Elbedour, Khalil;
Maldergem, Lionel Van;
Fulton, Anne B.;
Lam, Byron L.;
Powell, Berkley R.;
Swiderski, Ruth E.;
Bugge, Kevin E.;
Haider, Neena B.;
Kwitek-Black, Anne E.;
Ying, Lihua;
Duhl, David M.;
Gorman, Susan W.;
Heon, Elise;
Iannaccone, Alessandro;
Bonneau, Dominique;
Biesecker, Leslie G.;
Jacobson, Samuel G.

Publication type:

Article

A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1541, doi. 10.1093/hmg/8.8.1541

By:

Guillonneau, Xavier;
Piriev, Natik I.;
Danciger, Michael;
Kozak, Christine A.;
Cideciyan, Artur V.;
Jacobson, Samuel G.;
Farber, Debora B.

Publication type:

Article

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 8, p. 1401

By:

Knowles, James A.;
Shugart, Yin;
Banerjee, Poulabl;
Gilllam, T.Conrad;
Lewis, Charies A.;
Jacobson, Samuel G.;
Ott, Jurg

Publication type:

Article

Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69456-3

By:

Cideciyan, Artur V.;
Jacobson, Samuel G.;
Roman, Alejandro J.;
Sumaroka, Alexander;
Wu, Vivian;
Charng, Jason;
Lisi, Brianna;
Swider, Malgorzata;
Aguirre, Gustavo D.;
Beltran, William A.

Publication type:

Article

The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 13, p. 2560, doi. 10.1093/hmg/ddr155

By:

Lopes, Vanda S.;
Gibbs, Daniel;
Libby, Richard T.;
Aleman, Tomas S.;
Welch, Darcy L.;
Lillo, Concepción;
Jacobson, Samuel G.;
Radu, Roxana A.;
Steel, Karen P.;
Williams, David S.

Publication type:

Article

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 7, p. 1411, doi. 10.1093/hmg/ddr022

By:

Cideciyan, Artur V.;
Rachel, Rivka A.;
Aleman, Tomas S.;
Swider, Malgorzata;
Schwartz, Sharon B.;
Sumaroka, Alexander;
Roman, Alejandro J.;
Stone, Edwin M.;
Jacobson, Samuel G.;
Swaroop, Anand

Publication type:

Article