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- [1] A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingGENOME MEDICINE, 2019, 11 (1)Cao, Ye论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Chinese Univ Hong Kong, Dept Obstet & Gynecol, Hong Kong, Peoples R China Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USATokita, Mari J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAChen, Edward S.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAGhosh, Rajarshi论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAChen, Tiansheng论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAFeng, Yanming论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAGorman, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAGibellini, Federica论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAWard, Patricia A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USABraxton, Alicia论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAWang, Xia论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAMeng, Linyan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAXiao, Rui论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USABi, Weimin论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAXia, Fan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAEng, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAYang, Yaping论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Shaw, Chad论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Rice Univ, Dept Stat, Houston, TX 77251 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USALiu, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USAStankiewicz, Pawel论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA
- [2] A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingGenome Medicine, 11Ye Cao论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsMari J. Tokita论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsEdward S. Chen论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsRajarshi Ghosh论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsTiansheng Chen论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsYanming Feng论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsElizabeth Gorman论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsFederica Gibellini论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsPatricia A. Ward论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsAlicia Braxton论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsXia Wang论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsLinyan Meng论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsRui Xiao论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsWeimin Bi论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsFan Xia论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsChristine M. Eng论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsYaping Yang论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsTomasz Gambin论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsChad Shaw论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsPengfei Liu论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human GeneticsPawel Stankiewicz论文数: 0 引用数: 0 h-index: 0机构: Baylor College of Medicine,Department of Molecular and Human Genetics
- [3] Systematic exploration of mosaic variants detected in blood samples from a primary immunodeficiency cohort referred for research exome sequencingGENETICS IN MEDICINE, 2022, 24 (03) : S221 - S221Ghosh, Rajarshi论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USAOler, Andrew论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USARustad, Mark论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USAYan, Jia论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USASimiluk, Morgan论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USAWalkiewicz-Yvon, Magdalena论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USAHolland, Steven论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA
- [4] LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing dataNATURE COMMUNICATIONS, 2019, 10 (1)Fang, Li论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USAKao, Charlly论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USAGonzalez, Michael V.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USAMafra, Fernanda A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USAda Silva, Renata Pellegrino论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USALi, Mingyao论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Biostat Epidemiol & Informat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USAWenzel, Soren-Sebastian论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Inst Human Genet, Dept Genet & Pharmacol, Innsbruck, Austria Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USAWimmer, Katharina论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Inst Human Genet, Dept Genet & Pharmacol, Innsbruck, Austria Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USAHakonarson, Hakon论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USAWang, Kai论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA Hosp Univ Penn, Dept Pathol & Lab Med, 3400 Spruce St, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA
- [5] LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing dataNature Communications, 10Li Fang论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsCharlly Kao论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsMichael V. Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsFernanda A. Mafra论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsRenata Pellegrino da Silva论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsMingyao Li论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsSören-Sebastian Wenzel论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsKatharina Wimmer论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsHakon Hakonarson论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular TherapeuticsKai Wang论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Philadelphia,Raymond G. Perelman Center for Cellular and Molecular Therapeutics
- [6] Finding small somatic structural variants in exome sequencing data: a machine learning approachCOMPUTATIONAL STATISTICS, 2018, 33 (03) : 1145 - 1158Kuhn, Matthias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ, Inst Med Informat & Biometry IMB, Fac Med Carl Gustav Carus, Dresden, Germany Tech Univ, Inst Med Informat & Biometry IMB, Fac Med Carl Gustav Carus, Dresden, GermanyStange, Thoralf论文数: 0 引用数: 0 h-index: 0机构: Tech Univ, Inst Med Informat & Biometry IMB, Fac Med Carl Gustav Carus, Dresden, Germany Tech Univ, Inst Med Informat & Biometry IMB, Fac Med Carl Gustav Carus, Dresden, GermanyHerold, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Tech Univ, Med Klin & Poliklin 1, Dresden, Germany Deutsch Krebsforschungszentrum, Deutsch Konsortium Translat Krebsforsch, Heidelberg, Germany Tech Univ, Inst Med Informat & Biometry IMB, Fac Med Carl Gustav Carus, Dresden, GermanyThiede, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Tech Univ, Med Klin & Poliklin 1, Dresden, Germany Deutsch Krebsforschungszentrum, Deutsch Konsortium Translat Krebsforsch, Heidelberg, Germany Tech Univ, Inst Med Informat & Biometry IMB, Fac Med Carl Gustav Carus, Dresden, GermanyRoeder, Ingo论文数: 0 引用数: 0 h-index: 0机构: Tech Univ, Inst Med Informat & Biometry IMB, Fac Med Carl Gustav Carus, Dresden, Germany Tech Univ, Inst Med Informat & Biometry IMB, Fac Med Carl Gustav Carus, Dresden, Germany
- [7] Finding small somatic structural variants in exome sequencing data: a machine learning approachComputational Statistics, 2018, 33 : 1145 - 1158Matthias Kuhn论文数: 0 引用数: 0 h-index: 0机构: Technische Universität,Faculty of Medicine Carl Gustav Carus, Institute for Medical Informatics and Biometry (IMB)Thoralf Stange论文数: 0 引用数: 0 h-index: 0机构: Technische Universität,Faculty of Medicine Carl Gustav Carus, Institute for Medical Informatics and Biometry (IMB)Sylvia Herold论文数: 0 引用数: 0 h-index: 0机构: Technische Universität,Faculty of Medicine Carl Gustav Carus, Institute for Medical Informatics and Biometry (IMB)Christian Thiede论文数: 0 引用数: 0 h-index: 0机构: Technische Universität,Faculty of Medicine Carl Gustav Carus, Institute for Medical Informatics and Biometry (IMB)Ingo Roeder论文数: 0 引用数: 0 h-index: 0机构: Technische Universität,Faculty of Medicine Carl Gustav Carus, Institute for Medical Informatics and Biometry (IMB)
- [8] Using whole-exome sequencing to identify variants inherited from mosaic parentsEuropean Journal of Human Genetics, 2015, 23 : 547 - 550Jonathan J Rios论文数: 0 引用数: 0 h-index: 0机构: Sarah M. and Charles E. Seay Center for Musculoskeletal Research,Department of PediatricsMauricio R Delgado论文数: 0 引用数: 0 h-index: 0机构: Sarah M. and Charles E. Seay Center for Musculoskeletal Research,Department of Pediatrics
- [9] Using whole-exome sequencing to identify variants inherited from mosaic parentsEUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (04) : 547 - 550Rios, Jonathan J.论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Sarah M & Charles E Seay Ctr Musculoskeletal Res, Dallas, TX 75219 USA Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA Univ Texas SW Med Ctr Dallas, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA Texas Scottish Rite Hosp Children, Sarah M & Charles E Seay Ctr Musculoskeletal Res, Dallas, TX 75219 USADelgado, Mauricio R.论文数: 0 引用数: 0 h-index: 0机构: Texas Scottish Rite Hosp Children, Dept Neurol, Dallas, TX 75219 USA Univ Texas SW Med Ctr Dallas, Dept Neurol & Neurotherapeut, Dallas, TX 75390 USA Texas Scottish Rite Hosp Children, Sarah M & Charles E Seay Ctr Musculoskeletal Res, Dallas, TX 75219 USA
- [10] Mosaic Variants In Immune Function Genes Identified Through Exome SequencingJOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (SUPPL 1) : S152 - S152Hong, Celine论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAWalkiewicz, Magdalena论文数: 0 引用数: 0 h-index: 0机构: NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USASimiluk, Morgan论文数: 0 引用数: 0 h-index: 0机构: NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAYan, Jia论文数: 0 引用数: 0 h-index: 0机构: NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Med Sci & Comp LLC, Rockville, MD USA NHGRI, NIH, Bethesda, MD 20892 USAHsu, Amy论文数: 0 引用数: 0 h-index: 0机构: Lab Clin Immunol & Microbiol, Bethesda, MD USA NHGRI, NIH, Bethesda, MD 20892 USAKuram, Vasu论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAHuse, Susan论文数: 0 引用数: 0 h-index: 0机构: NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USALack, Justin论文数: 0 引用数: 0 h-index: 0机构: NIAID, Collaborat Bioinformat Resource, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAOlson, Nathanael论文数: 0 引用数: 0 h-index: 0机构: NIST, Gaithersburg, MD 20899 USA NHGRI, NIH, Bethesda, MD 20892 USAZook, Justin论文数: 0 引用数: 0 h-index: 0机构: NIST, Genome Bottle Anal Team, Genome Bottle Consortium, Gaithersburg, MD 20899 USA NHGRI, NIH, Bethesda, MD 20892 USAHolland, Steven论文数: 0 引用数: 0 h-index: 0机构: NIAID, Div Intramural Res, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, Immunopathogenesis Sect, LCIM, DIR,NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USABiesecker, Leslie G.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA