{
    "abstract": "To describe a phenotype caused by \nReview and analysis of clinical and genetic data.\nPatients shared the above traits and had whole-exome sequencing that showed de novo variants of the \nD-DEM\u00d8 represents an ",
    "authors": [
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Lyndsey",
            "initials": "L",
            "lastname": "Prange"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Milton",
            "initials": "M",
            "lastname": "Pratt"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Kristin",
            "initials": "K",
            "lastname": "Herman"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Raphael",
            "initials": "R",
            "lastname": "Schiffmann"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "David M",
            "initials": "DM",
            "lastname": "Mueller"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Melissa",
            "initials": "M",
            "lastname": "McLean"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Mary Moya",
            "initials": "MM",
            "lastname": "Mendez"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Nicole",
            "initials": "N",
            "lastname": "Walley"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Erin L",
            "initials": "EL",
            "lastname": "Heinzen"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "David",
            "initials": "D",
            "lastname": "Goldstein"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Vandana",
            "initials": "V",
            "lastname": "Shashi"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Arsen",
            "initials": "A",
            "lastname": "Hunanyan"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Vijay",
            "initials": "V",
            "lastname": "Pagadala"
        },
        {
            "affiliation": "Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.",
            "firstname": "Mohamad A",
            "initials": "MA",
            "lastname": "Mikati"
        }
    ],
    "conclusions": null,
    "copyrights": "Copyright \u00a9 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.",
    "doi": "10.1212/NXG.0000000000000466",
    "journal": "Neurology. Genetics",
    "keywords": [],
    "methods": null,
    "publication_date": "2020-08-18",
    "pubmed_id": "32802951\n24739246\n31178018\n19152422\n24880027\n27577505\n29165669\n28634454\n18669634\n28337648\n17282997\n27268479\n25656163\n24713507\n24123283\n26417536\n22842232\n25681536\n29567111\n29889309\n25523819\n30071271\n26410222\n25713066\n28472154\n21165980\n28543714\n30362107\n31484714\n25476251",
    "results": "Patients shared the above traits and had whole-exome sequencing that showed de novo variants of the ",
    "title": "D-DEM\u00d8, a distinct phenotype caused by ",
    "xml": "<Element 'PubmedArticle' at 0x78850394c270>"
}