Found: 8

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  • Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

    Published in:
    Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2384
    By:
    • Blue, Elizabeth E.;
    • Moore, Kristin J.;
    • North, Kari E.;
    • Desrosiers, Tania A.;
    • Carmichael, Suzan L.;
    • White, Janson J.;
    • Chong, Jessica X.;
    • Bamshad, Michael J.;
    • Jenkins, Mary M.;
    • Almli, Lynn M.;
    • Brody, Lawrence C.;
    • Freedman, Sharon F.;
    • Reefhuis, Jennita;
    • Romitti, Paul A.;
    • Shaw, Gary M.;
    • Werler, Martha;
    • Kay, Denise M.;
    • Browne, Marilyn L.;
    • Feldkamp, Marcia L.;
    • Finnell, Richard H.
    Publication type:
    Article

  • Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

    Published in:
    Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0359-z
    By:
    • Loviglio, Maria Nicla;
    • Beck, Christine R.;
    • White, Janson J.;
    • Leleu, Marion;
    • Harel, Tamar;
    • Guex, Nicolas;
    • Niknejad, Anne;
    • Bi, Weimin;
    • Chen, Edward S.;
    • Crespo, Isaac;
    • Jiong Yan;
    • Wu-Lin Charng;
    • Shen Gu;
    • Ping Fang;
    • Coban-Akdemir, Zeynep;
    • Shaw, Chad A.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Rougemont, Jacques
    Publication type:
    Article

  • Back Cover, Volume 43, Issue 7.

    Published in:
    Human Mutation, 2022, v. 43, n. 7, p. ii, doi. 10.1002/humu.24420
    By:
    • Lima, Ariadne R.;
    • Ferreira, Barbara M.;
    • Zhang, Chaofan;
    • Jolly, Angad;
    • Du, Haowei;
    • White, Janson J.;
    • Dawood, Moez;
    • Lins, Tulio C.;
    • Chiabai, Marcela A.;
    • van Beusekom, Ellen;
    • Cordoba, Mara S.;
    • Caldas Rosa, Erica C.C.;
    • Kayserili, Hulya;
    • Kimonis, Virginia;
    • Wu, Erica;
    • Mellado, Cecilia;
    • Aggarwal, Vineet;
    • Richieri‐Costa, Antonio;
    • Brunoni, Décio;
    • Canó, Talyta M.
    Publication type:
    Article

  • Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome.

    Published in:
    Human Mutation, 2022, v. 43, n. 7, p. 900, doi. 10.1002/humu.24375
    By:
    • Lima, Ariadne R.;
    • Ferreira, Barbara M.;
    • Zhang, Chaofan;
    • Jolly, Angad;
    • Du, Haowei;
    • White, Janson J.;
    • Dawood, Moez;
    • Lins, Tulio C.;
    • Chiabai, Marcela A.;
    • van Beusekom, Ellen;
    • Cordoba, Mara S.;
    • Caldas Rosa, Erica C.C.;
    • Kayserili, Hulya;
    • Kimonis, Virginia;
    • Wu, Erica;
    • Mellado, Cecilia;
    • Aggarwal, Vineet;
    • Richieri‐Costa, Antonio;
    • Brunoni, Décio;
    • Canó, Talyta M.
    Publication type:
    Article

  • Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2136, doi. 10.1002/ajmg.a.62194
    By:
    • Hildebrandt, Clara C.;
    • Patel, Nisha;
    • Graham, John M.;
    • Bamshad, Michael;
    • Nickerson, Deborah A.;
    • White, Janson J.;
    • Marvin, Colby T.;
    • Miller, Danny E.;
    • Grand, Katheryn L.;
    • Sanchez‐Lara, Pedro A.;
    • Schweitzer, Daniela;
    • Al‐Zaidan, Hamad I.;
    • Al Masseri, Zainab;
    • Alkuraya, Fowzan S.;
    • Lin, Angela E.
    Publication type:
    Article

  • Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2451, doi. 10.1002/ajmg.a.38315
    By:
    • Jehee, Fernanda S.;
    • de Oliveira, Valdirene T.;
    • Gurgel‐Giannetti, Juliana;
    • Pietra, Rafaella X.;
    • Rubatino, Fernando V. M.;
    • Carobin, Natália V.;
    • Vianna, Gabrielle S.;
    • de Freitas, Mariana L.;
    • Fernandes, Karla S.;
    • Ribeiro, Beatriz S. V.;
    • Brüggenwirth, Hennie T.;
    • Ali‐Amin, Roza;
    • White, Janson J.;
    • Akdemir, Zeynep C.;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Lupski, James R.;
    • Varela, Monica C.;
    • Koiffmann, Célia;
    • Rosenberg, Carla
    Publication type:
    Article

  • Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

    Published in:
    2019
    By:
    • Jolly, Angad;
    • Bayram, Yavuz;
    • Turan, Serap;
    • Aycan, Zehra;
    • Tos, Tulay;
    • Abali, Zehra Yavas;
    • Hacihamdioglu, Bulent;
    • Coban Akdemir, Zeynep Hande;
    • Hijazi, Hadia;
    • Bas, Serpil;
    • Atay, Zeynep;
    • Guran, Tulay;
    • Abali, Saygin;
    • Bas, Firdevs;
    • Darendeliler, Feyza;
    • Colombo, Roberto;
    • Barakat, Tahsin Stefan;
    • Rinne, Tuula;
    • White, Janson J;
    • Yesil, Gozde
    Publication type:
    journal article

  • Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

    Published in:
    Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 77, doi. 10.1002/mgg3.181
    By:
    • Boone, Philip M.;
    • Yuan, Bo;
    • Gu, Shen;
    • Ma, Zhiwei;
    • Gambin, Tomasz;
    • Gonzaga‐Jauregui, Claudia;
    • Jain, Mahim;
    • Murdock, Todd J.;
    • White, Janson J.;
    • Jhangiani, Shalini N.;
    • Walker, Kimberly;
    • Wang, Qiaoyan;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Hejtmancik, J. Fielding;
    • Lupski, James R.;
    • Posey, Jennifer E.;
    • Lewis, Richard A.
    Publication type:
    Article