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- [21] The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease MechanismHUMAN MUTATION, 2009, 30 (04) : E541 - E553Roessler, Erich论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USALacbawan, Felicitas论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USADubourg, Christele论文数: 0 引用数: 0 h-index: 0机构: CHU Pontchaillou, Genet Mol Lab, Rennes, France Univ Rennes 1, CNRS, Genet & Dev UMR6061, IFR 140, Rennes, France NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAPaulussen, Aimee论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Maastricht azM, Dept Clin Genet, Maastricht, Netherlands NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAHerbergs, Jos论文数: 0 引用数: 0 h-index: 0机构: Acad Hosp Maastricht azM, Dept Clin Genet, Maastricht, Netherlands NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAHehr, Ute论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, Dept Pediat, D-3400 Gottingen, Germany Univ Gottingen, Inst Human Genet, Dept Pediat Neurol, D-3400 Gottingen, Germany NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USABendavid, Claude论文数: 0 引用数: 0 h-index: 0机构: CHU Pontchaillou, Genet Mol Lab, Rennes, France Univ Rennes 1, CNRS, Genet & Dev UMR6061, IFR 140, Rennes, France NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAZhou, Nan论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAOuspenskaia, Maia论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USABale, Sherri论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAOdent, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Univ Rennes 1, CNRS, Genet & Dev UMR6061, IFR 140, Rennes, France CHU Hop Sud, Serv Genet Clin, Rennes, France NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USADavid, Veronique论文数: 0 引用数: 0 h-index: 0机构: CHU Pontchaillou, Genet Mol Lab, Rennes, France Univ Rennes 1, CNRS, Genet & Dev UMR6061, IFR 140, Rennes, France NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USAMuenke, Maximilian论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
- [22] Exploratory analysis of Janus kinase 1 (JAK1) loss-of-function (LoF) mutations in patients with DNA mismatch repair-deficient/microsatellite instability-high (dMMR/MSI-H) metastatic colorectal cancer (mCRC) treated with nivolumab plus ipilimumab in CheckMate-142CANCER RESEARCH, 2018, 78 (13)Kopetz, Scott论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAAndre, Theirry论文数: 0 引用数: 0 h-index: 0机构: UPMC Paris 06, Hop St Antoine, Paris, France UPMC Paris 06, Sorbonne Univ, Paris, France Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAOverman, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAZagonel, Vittorina论文数: 0 引用数: 0 h-index: 0机构: Ist Oncol Veneto IOV IRCSS, Padua, Italy Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USALonardi, Sara论文数: 0 引用数: 0 h-index: 0机构: Ist Oncol Veneto IOV IRCSS, Padua, Italy Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAAglietta, Massimo论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Turin, Italy Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAGelsomino, Fabio论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Modena, Modena, Italy Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAMcDermott, Ray论文数: 0 引用数: 0 h-index: 0机构: St Vincents Univ Hosp, Dublin, Ireland Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAWong, Ka Yeung Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Sydney, NSW, Australia Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAHendlisz, Alain论文数: 0 引用数: 0 h-index: 0机构: Inst Jules Bordet, Brussels, Belgium Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAGarcia Alfonso, Pilar论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Gregorio Maranon, Madrid, Spain Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USALenz, Heinz-Josef论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Calif, Norris Comprehens Canc Ctr, Los Angeles, CA USA Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAWalsh, Alice论文数: 0 引用数: 0 h-index: 0机构: Bristol Myers Squibb, Princeton, NJ USA Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAMoss, Rebecca A.论文数: 0 引用数: 0 h-index: 0机构: Bristol Myers Squibb, Princeton, NJ USA Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USAGreenawalt, Danielle论文数: 0 引用数: 0 h-index: 0机构: Bristol Myers Squibb, Princeton, NJ USA Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USACao, Z. Alexander论文数: 0 引用数: 0 h-index: 0机构: Bristol Myers Squibb, Princeton, NJ USA Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA