Works by Jacobson, Samuel G.

Results: 82
    1
    2
    3
    4
    5
    6

    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
    7
    8
    9
    10
    11
    12
    13
    14
    15

    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

    Published in:
    PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145951
    By:
    • Weisschuh, Nicole;
    • Mayer, Anja K.;
    • Strom, Tim M.;
    • Kohl, Susanne;
    • Glöckle, Nicola;
    • Schubach, Max;
    • Andreasson, Sten;
    • Bernd, Antje;
    • Birch, David G.;
    • Hamel, Christian P.;
    • Heckenlively, John R.;
    • Jacobson, Samuel G.;
    • Kamme, Christina;
    • Kellner, Ulrich;
    • Kunstmann, Erdmute;
    • Maffei, Pietro;
    • Reiff, Charlotte M.;
    • Rohrschneider, Klaus;
    • Rosenberg, Thomas;
    • Rudolph, Günther
    Publication type:
    Article
    16

    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
    17

    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
    18

    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
    19

    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
    20

    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
    21
    22

    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
    23
    24
    25

    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
    26

    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
    27
    28
    29

    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
    30
    31
    32
    33
    34
    35
    36
    37
    38
    39

    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
    40

    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
    41
    42

    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
    43

    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
    44
    45
    46

    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
    47

    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
    48

    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
    49

    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
    50