Works by Stone, Edwin

Results: 153
    1
    2

    Propensity of Patient-Derived iPSCs for Retinal Differentiation: Implications for Autologous Cell Replacement.

    Published in:
    Stem Cells Translational Medicine, 2023, v. 12, n. 6, p. 365, doi. 10.1093/stcltm/szad028
    By:
    • Cooke, Jessica A;
    • Voigt, Andrew P;
    • Collingwood, Michael A;
    • Stone, Nicholas E;
    • Whitmore, S Scott;
    • DeLuca, Adam P;
    • Burnight, Erin R;
    • Anfinson, Kristin R;
    • Vakulskas, Christopher A;
    • Reutzel, Austin J;
    • Daggett, Heather T;
    • Andorf, Jeaneen L;
    • Stone, Edwin M;
    • Mullins, Robert F;
    • Tucker, Budd A
    Publication type:
    Article
    3
    4
    5
    6
    7
    8
    9

    Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse.

    Published in:
    Visual Neuroscience, 2005, v. 22, n. 5, p. 619, doi. 10.1017/s0952523805225117
    By:
    • LAWRENCE H. PINTO;
    • MARTHA H. VITATERNA;
    • KAZUHIRO SHIMOMURA;
    • SANDRA M. SIEPKA;
    • ERIN L. MCDEARMON;
    • DEBORAH FENNER;
    • STEPHEN L. LUMAYAG;
    • CHIAKI OMURA;
    • ANNE W. ANDREWS;
    • MATTHEW BAKER;
    • BRANDON M. INVERGO;
    • MARISSA A. OLVERA;
    • EDWARD HEFFRON;
    • ROBERT F. MULLINS;
    • VAL C. SHEFFIELD;
    • EDWIN M. STONE;
    • JOSEPH S. TAKAHASHI
    Publication type:
    Article
    10

    METTL23 Variants and Patients With Normal-Tension Glaucoma.

    Published in:
    JAMA Ophthalmology, 2024, v. 142, n. 11, p. 1037, doi. 10.1001/jamaophthalmol.2024.3829
    By:
    • Scheetz, Todd. E.;
    • Tollefson, Mallory R.;
    • Roos, Ben R.;
    • Boese, Erin A.;
    • Pouw, Andrew E.;
    • Stone, Edwin M.;
    • Schnieders, Michael J.;
    • Fingert, John H.
    Publication type:
    Article
    11
    12
    13
    14

    Myocilin Mutations in Patients With Normal-Tension Glaucoma.

    Published in:
    2019
    By:
    • Alward, Wallace L. M.;
    • van der Heide, Carly;
    • Khanna, Cheryl L.;
    • Roos, Ben R.;
    • Sivaprasad, Sobha;
    • Kam, Jason;
    • Ritch, Robert;
    • Lotery, Andrew;
    • Igo, Robert P.;
    • Cooke Bailey, Jessica N.;
    • Stone, Edwin M.;
    • Scheetz, Todd E.;
    • Kwon, Young H.;
    • Pasquale, Louis R.;
    • Wiggs, Janey L.;
    • Fingert, John H.;
    • Igo, Robert P Jr;
    • NEIGHBORHOOD Consortium
    Publication type:
    journal article
    15
    16
    17
    18
    19
    20
    21
    22
    23
    24
    25
    26
    27

    Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 2, p. 173, doi. 10.1038/sj.ejhg.5201736
    By:
    • White, Dominic R. A.;
    • Ganesh, Anuradha;
    • Nishimura, Darryl;
    • Rattenberry, Eleanor;
    • Ahmed, Shakeel;
    • Smith, Ursula M.;
    • Pasha, Shanaz;
    • Raeburn, Sandy;
    • Trembath, Richard C.;
    • Rajab, Anna;
    • Macdonald, Fiona;
    • Banin, Eyal;
    • Stone, Edwin M.;
    • Johnson, Colin A.;
    • Sheffield, Val C.;
    • Maher, Eamonn R.
    Publication type:
    Article
    28

    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
    29

    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
    30

    Mutations in MKKS cause Bardet-Biedl syndrome.

    Published in:
    Nature Genetics, 2000, v. 26, n. 1, p. 15, doi. 10.1038/79116
    By:
    • Slavotinek, Anne M.;
    • Stone, Edwin M.;
    • Mykytyn, Kirk;
    • Heckenlively, John R.;
    • Green, Jane S.;
    • Heon, Elise;
    • Musarella, Maria A.;
    • Parfrey, Patrick S.;
    • Sheffield, Val C.;
    • Biesecker, Leslie G.
    Publication type:
    Article
    31
    32
    33
    34
    35
    36

    Human Uteroglobin Gene: Structure, Subchromosomal Localization, and Polymorphism.

    Published in:
    DNA & Cell Biology, 1997, v. 16, n. 1, p. 73, doi. 10.1089/dna.1997.16.73
    By:
    • ZHANG, ZHONGJIAN;
    • ZIMONJIC, DRAZEN B.;
    • POPESCU, NICHOLAS C.;
    • WANG, NADIA;
    • GERHARD, DANIELA S.;
    • STONE, EDWIN M.;
    • ARBOUR, NANCY C.;
    • DE VRIES, H.G.;
    • SCHEFFER, H.;
    • GERRITSEN, J.;
    • COLLE'E, J.M.;
    • KATE, L.P. TEN;
    • MUKHERJEE, ANIL B.
    Publication type:
    Article
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48
    49
    50