CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)

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  "schema:datePublished": 2025,
  "borg:venue": "Human Genetics",
  "schema:identifier": "10.1007/s00439-024-02722-w",
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    "Aspromonte, Maria Cristina",
    "Del Conte, Alessio",
    "Zhu, Shaowen",
    "Tan, Wuwei",
    "Shen, Yang",
    "Zhang, Yexian",
    "Li, Qi",
    "Wang, Maggie Haitian",
    "Babbi, Giulia",
    "Bovo, Samuele",
    "Martelli, Pier Luigi",
    "Casadio, Rita",
    "Althagafi, Azza",
    "Toonsi, Sumyyah",
    "Kulmanov, Maxat",
    "Hoehndorf, Robert",
    "Katsonis, Panagiotis",
    "Williams, Amanda",
    "Lichtarge, Olivier",
    "Xian, Su",
    "Surento, Wesley",
    "Pejaver, Vikas",
    "Mooney, Sean D.",
    "Sunderam, Uma",
    "Srinivasan, Rajgopal",
    "Murgia, Alessandra",
    "Piovesan, Damiano",
    "Tosatto, Silvio C. E.",
    "Leonardi, Emanuela"
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