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- [1] A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypesGENETICS IN MEDICINE, 2020, 22 (01) : 102 - 111Park, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USALevin, Michael G.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USAHaggerty, Christopher M.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Imaging Sci & Innovat, Danville, PA USA Geisinger, Inst Heart, Danville, PA USA Geisinger, Biomed & Translat Informat Inst, Danville, PA USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USAHartzel, Dustin N.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Biomed & Translat Informat Inst, Danville, PA USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USAJudy, Renae论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Surg, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USAKember, Rachel L.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USAReza, Nosheen论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA Hosp Univ Penn, Ctr Inherited Cardiovasc Dis, Div Cardiovasc Med, 3400 Spruce St, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USARitchie, Marylyn D.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA Univ Penn, Inst Biomed Informat, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USAOwens, Anjali T.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA Hosp Univ Penn, Ctr Inherited Cardiovasc Dis, Div Cardiovasc Med, 3400 Spruce St, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USADamrauer, Scott M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Surg, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USARader, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Inst Translat Med & Therapeut, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA
- [2] A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility GenesCANCERS, 2022, 14 (13)Astiazaran-Symonds, Esteban论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USAKim, Jung论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USAHaley, Jeremy S.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Hlth Syst, Geisinger Clin, 100 N Acad Ave, Danville, PA 17821 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USAKim, Sun Young论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USA Johns Hopkins Univ, Sch Med, Dept Med Genet, 733 N Broadway, Baltimore, MD 21205 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USARao, H. Shanker论文数: 0 引用数: 0 h-index: 0机构: Geisinger Hlth Syst, Geisinger Clin, 100 N Acad Ave, Danville, PA 17821 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USACarey, David J.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Hlth Syst, Geisinger Clin, 100 N Acad Ave, Danville, PA 17821 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USAStewart, Douglas R.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USAGoldstein, Alisa M.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr, Rockville, MD 20850 USA
- [3] Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variantsHUMAN GENETICS AND GENOMICS ADVANCES, 2024, 5 (01):de Andrade, Kelvin C.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAStrande, Natasha T.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Clin, Dept Genom Hlth, Danville, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAKim, Jung论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAHaley, Jeremy S.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Clin, Dept Genom Hlth, Danville, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAHatton, Jessica N.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAFrone, Megan N.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAKhincha, Payal P.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAThone, Gretchen M.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Clin, Dept Genom Hlth, Danville, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAMirshahi, Uyenlinh L.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Clin, Dept Genom Hlth, Danville, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USASchneider, Cynthia论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Div Hematol Oncol, Philadelphia, PA USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USADesai, Heena论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Div Hematol Oncol, Philadelphia, PA USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USADove, James T.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Clin, Dept Genom Hlth, Danville, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USASmelser, Diane T.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Clin, Dept Genom Hlth, Danville, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAPenn Med Biobank, Penn Medicine论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USARegeneron Genetics, Arnold J.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USALevine, Arnold J.论文数: 0 引用数: 0 h-index: 0机构: Simons Ctr Syst Biol, Inst Adv Study, Princeton, NJ USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAMaxwell, Kara N.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Div Hematol Oncol, Philadelphia, PA USA Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USAStewart, Douglas R.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USACarey, David J.论文数: 0 引用数: 0 h-index: 0机构: Geisinger Med Clin, Dept Genom Hlth, Danville, PA USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USASavage, Sharon A.论文数: 0 引用数: 0 h-index: 0机构: NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA
- [4] Genome-first approach to characterize the prevalence and associated cancer phenotypes of pathogenic or likely pathogenic germline TP53 variantsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 576 - 577De Andrade, Kelvin Cesar论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAStrande, Natasha T.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Genom Hlth, Danville, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAKim, Jung论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAHaley, Jeremy S.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Genom Hlth, Danville, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAHatton, Jessica N.论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAFrone, Megan N.论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAKhincha, Payal P.论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAThone, Gretchen M.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Genom Hlth, Danville, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAMirshahi, Uyenlinh L.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Genom Hlth, Danville, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USASchneider, Cynthia论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Philadelphia, PA USA Dept Genet, Philadelphia, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USADesai, Heena论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Philadelphia, PA USA Dept Genet, Philadelphia, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USADove, James T.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Genom Hlth, Danville, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USASmelser, Diane T.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Genom Hlth, Danville, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USALevine, Arnold J.论文数: 0 引用数: 0 h-index: 0机构: Inst Adv Study, Simons Ctr Syst Biol, Princeton, NJ USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAMaxwell, Kara N.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Philadelphia, PA USA Dept Genet, Philadelphia, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USAStewart, Douglas论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USACarey, David J.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Genom Hlth, Danville, PA USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USASavage, Sharon A.论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA
- [5] A genome-first approach to variants in MLXIPL and their association with hepatic steatosis and plasma lipidsHEPATOLOGY COMMUNICATIONS, 2024, 8 (05)Hehl, Leonida论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, Germany Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyCreasy, Kate T.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyVitali, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyScorletti, Eleonora论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA Univ Penn, Inst Translat Med & Therapeut, Perelman Sch Med, Philadelphia, PA USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanySeeling, Katharina S.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, Germany Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyVell, Mara S.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, Germany Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyRendel, Miriam D.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, Germany Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyConlon, Donna论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyVujkovic, Marijana论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyZandvakili, Inuk论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Div Gastroenterol & Hepatol, Philadelphia, PA USA Univ Cincinnati, Coll Med, Div Digest Dis, Cincinnati, OH USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyTrautwein, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, Germany Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanySchneider, Kai M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, Germany Univ Penn, Perelman Sch Med, Dept Microbiol, Philadelphia, PA USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanyRader, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, GermanySchneider, Carolin V.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, Germany Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA USA Univ Penn, Inst Translat Med & Therapeut, Perelman Sch Med, Philadelphia, PA USA Univ Hosp RWTH Aachen, Dept Med Gastroenterol Metab Dis & Intens Care 3, D-52074 Aachen, Germany
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