Works matching AU Santani, Avni B.

Results: 8
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    Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1890, doi. 10.1002/ajmg.a.40380
    By:
    • Ritter, Alyssa L.;
    • McDougall, Carey;
    • Skraban, Cara;
    • Medne, Livija;
    • Bedoukian, Emma C.;
    • Asher, Stephanie B.;
    • Balciuniene, Jorune;
    • Campbell, Colleen D.;
    • Baker, Samuel W.;
    • Denenberg, Elizabeth H.;
    • Mazzola, Sarah;
    • Fiordaliso, Sarah K.;
    • Krantz, Ian D.;
    • Kaplan, Paige;
    • Ierardi‐Curto, Lynne;
    • Santani, Avni B.;
    • Zackai, Elaine H.;
    • Izumi, Kosuke
    Publication type:
    Article
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    Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

    Published in:
    Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0038-y
    By:
    • Li, Mindy H.;
    • Abrudan, Jenica L.;
    • Dulik, Matthew C.;
    • Sasson, Ariella;
    • Brunton, Joshua;
    • Jayaraman, Vijayakumar;
    • Dugan, Noreen;
    • Haley, Danielle;
    • Rajagopalan, Ramakrishnan;
    • Biswas, Sawona;
    • Sarmady, Mahdi;
    • DeChene, Elizabeth T.;
    • Deardorff, Matthew A.;
    • Wilkens, Alisha;
    • Noon, Sarah E.;
    • Scarano, Maria I.;
    • Santani, Avni B.;
    • White, Peter S.;
    • Pennington, Jeffrey;
    • Conlin, Laura K.
    Publication type:
    Article
    7

    Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

    Published in:
    Human Genomics, 2015, v. 9, n. 1, p. 15, doi. 10.1186/s40246-015-0038-y
    By:
    • Li, Mindy H.;
    • Abrudan, Jenica L.;
    • Dulik, Matthew C.;
    • Sasson, Ariella;
    • Brunton, Joshua;
    • Jayaraman, Vijayakumar;
    • Dugan, Noreen;
    • Haley, Danielle;
    • Rajagopalan, Ramakrishnan;
    • Biswas, Sawona;
    • Sarmady, Mahdi;
    • DeChene, Elizabeth T.;
    • Deardorff, Matthew A.;
    • Wilkens, Alisha;
    • Noon, Sarah E.;
    • Scarano, Maria I.;
    • Santani, Avni B.;
    • White, Peter S.;
    • Pennington, Jeffrey;
    • Conlin, Laura K.
    Publication type:
    Article
    8

    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

    Published in:
    Human Mutation, 2018, v. 39, n. 11, p. 1641, doi. 10.1002/humu.23643
    By:
    • Harrison, Steven M.;
    • Dolinksy, Jill S.;
    • Chen, Wenjie;
    • Collins, Christin D.;
    • Das, Soma;
    • Deignan, Joshua L.;
    • Garber, Kathryn B.;
    • Garcia, John;
    • Jarinova, Olga;
    • Knight Johnson, Amy E.;
    • Koskenvuo, Juha W.;
    • Lee, Hane;
    • Mao, Rong;
    • Mar‐Heyming, Rebecca;
    • McFaddin, Andrew S.;
    • Moyer, Krista;
    • Nagan, Narasimhan;
    • Rentas, Stefan;
    • Santani, Avni B.;
    • Seppälä, Eija H.
    Publication type:
    Article