Works matching AU Bale, Jim

Results: 10
    1

    Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63904
    By:
    • Borja, Nicholas A.;
    • Tinker, Rory J.;
    • Bivona, Stephanie A.;
    • Smith, Carson A.;
    • Locker, Theodore Krijnse;
    • Fernandes, Samuela;
    • Acosta, Maria T.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al‐Beshri, Ali;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim
    Publication type:
    Article
    2

    EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63556
    By:
    • Forghani, Irman;
    • Lang, Steven H.;
    • Rodier, Matthew J.;
    • Bivona, Stephanie A.;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Agrawal, Pankaj B.;
    • Alejandro, Mercedes E.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Baker, Eva;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim
    Publication type:
    Article
    3

    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.

    Published in:
    BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-023-09935-9
    By:
    • Lu, Jinfeng;
    • Toro, Camilo;
    • Adams, David R.;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim;
    • Bamshad, Michael;
    • Barbouth, Deborah;
    • Bayrak-Toydemir, Pinar;
    • Beck, Anita;
    • Beggs, Alan H.
    Publication type:
    Article
    4

    Participation in a national diagnostic research study: assessing the patient experience.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02695-5
    By:
    • Rosenfeld, Lindsay E.;
    • LeBlanc, Kimberly;
    • Nagy, Anna;
    • Ego, Braeden K.;
    • The Undiagnosed Diseases Network;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim;
    • Bamshad, Michael;
    • Barbouth, Deborah
    Publication type:
    Article
    5

    Continuing a search for a diagnosis: the impact of adolescence and family dynamics.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-022-02598-x
    By:
    • Miller, Ilana M.;
    • Yashar, Beverly M.;
    • Undiagnosed Disease Network;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Agrawal, Pankaj B.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Baker, Eva;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim;
    • Bamshad, Michael;
    • Barbouth, Deborah
    Publication type:
    Article
    6

    Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.

    Published in:
    Journal of Genetic Counseling, 2023, v. 32, n. 5, p. 993, doi. 10.1002/jgc4.1707
    By:
    • McConkie‐Rosell, Allyn;
    • Spillmann, Rebecca C.;
    • Schoch, Kelly;
    • Sullivan, Jennifer A.;
    • Walley, Nicole;
    • McDonald, Marie;
    • Hooper, Stephen R.;
    • Shashi, Vandana;
    • Adam, Margaret;
    • Adams, David R.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Bale, Jim
    Publication type:
    Article
    7

    Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.

    Published in:
    BioData Mining, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s13040-024-00418-5
    By:
    • Fitzsimmons, Lane;
    • Acosta, Maria T.;
    • Adams, David R.;
    • Afzali, Ben;
    • Al-Beshri, Ali;
    • Allenspach, Eric;
    • Allworth, Aimee;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Balasubramanyam, Ashok;
    • Baldridge, Dustin;
    • Baldwin, Erin;
    • Bale, Jim;
    • Bamshad, Michael;
    • Barbouth, Deborah;
    • Bayrak-Toydemir, Pinar
    Publication type:
    Article
    8
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    10

    Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.

    Published in:
    2021
    By:
    • Baldridge, Dustin;
    • Wangler, Michael F.;
    • Bowman, Angela N.;
    • Yamamoto, Shinya;
    • Undiagnosed Diseases Network;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Agrawal, Pankaj B.;
    • Alejandro, Mercedes E.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Bademci, Guney;
    • Baker, Eva;
    • Balasubramanyam, Ashok;
    • Bale, Jim
    Publication type:
    journal article