Works by Regier, Debra

Results: 18
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    Assessment of Thyroid Function in Patients With Alkaptonuria.

    Published in:
    JAMA Network Open, 2020, p. e201357, doi. 10.1001/jamanetworkopen.2020.1357
    By:
    • Avadhanula, Shirisha;
    • Introne, Wendy J.;
    • Auh, Sungyoung;
    • Soldin, Steven J.;
    • Stolze, Brian;
    • Regier, Debra;
    • Ciccone, Carla;
    • Hannah-Shmouni, Fady;
    • Filie, Armando C.;
    • Burman, Kenneth D.;
    • Klubo-Gwiezdzinska, Joanna
    Publication type:
    Article
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    Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 3, p. 377, doi. 10.1111/cge.14360
    By:
    • Berger, Seth I.;
    • Pitsava, Georgia;
    • Cohen, Andrea J.;
    • Délot, Emmanuèle C.;
    • LoTempio, Jonathan;
    • Andrew, Erin Hallie;
    • Martin, Gloria Mas;
    • Marmolejos, Sofia;
    • Albert, Jessica;
    • Meltzer, Beatrix;
    • Fraser, Jamie;
    • Regier, Debra S.;
    • Kahn‐Kirby, Amanda H.;
    • Smith, Erica;
    • Knoblach, Susan;
    • Ko, Arthur;
    • Fusaro, Vincent A.;
    • Vilain, Eric
    Publication type:
    Article
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    A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
    By:
    • van der Sluijs, Pleuntje J.;
    • Alders, Mariëlle;
    • Dingemans, Alexander J. M.;
    • Parbhoo, Kareesma;
    • van Bon, Bregje W.;
    • Dempsey, Jennifer C.;
    • Doherty, Dan;
    • den Dunnen, Johan T.;
    • Gerkes, Erica H.;
    • Milller, Ilana M.;
    • Moortgat, Stephanie;
    • Regier, Debra S.;
    • Ruivenkamp, Claudia A. L.;
    • Schmalz, Betsy;
    • Smol, Thomas;
    • Stuurman, Kyra E.;
    • Vincent-Delorme, Catherine;
    • de Vries, Bert B. A.;
    • Sadikovic, Bekim;
    • Hickey, Scott E.
    Publication type:
    Article
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    Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 500, doi. 10.1002/ajmg.a.62000
    By:
    • Summerlin, Maxwell L.;
    • Regier, Debra S.;
    • Fraser, Jamie L.;
    • Chapman, Kimberly A.;
    • Kafashzadeh, Dariush;
    • Billington, Charles;
    • Kisling, Monisha;
    • Grochowsky, Angela;
    • Ah Mew, Nicholas;
    • Shur, Natasha
    Publication type:
    Article
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    MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 634, doi. 10.1002/ajmg.a.37468
    By:
    • Regier, Debra S.;
    • Kwon, Hyuk Joon;
    • Johnston, Jean;
    • Golas, Gretchen;
    • Yang, Sandra;
    • Wiggs, Edythe;
    • Latour, Yvonne;
    • Thomas, Sarah;
    • Portner, Cindy;
    • Adams, David;
    • Vezina, Gilbert;
    • Baker, Eva H.;
    • Tifft, Cynthia J.
    Publication type:
    Article
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