共 50 条
- [41] De novo variant 与新发变异(DDXYC-004)中华围产医学杂志, 2025, 28 (01)周祎论文数: 0 引用数: 0 h-index: 0机构: 中山大学附属第一医院妇产科,广州
- [42] Extended clinical spectrum associated with de novo variant in CLTC geneEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 501 - 502Tael, Kristi论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Inst Clin Med, Dept Clin Genet, Fac Med, Tartu, Estonia Tartu Univ Hosp, Dept Clin Genet, United Labs, Tartu, Estonia Univ Tartu, Inst Clin Med, Dept Clin Genet, Fac Med, Tartu, EstoniaSapovalova, Nadezda论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Childrens Clin, Tartu, Estonia Univ Tartu, Inst Clin Med, Dept Clin Genet, Fac Med, Tartu, EstoniaOiglane-Shlik, Eve论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Childrens Clin, Tartu, Estonia Univ Tartu, Inst Clin Med, Dept Clin Genet, Fac Med, Tartu, EstoniaPuusepp, Sanna论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Inst Clin Med, Dept Clin Genet, Fac Med, Tartu, Estonia Tartu Univ Hosp, Dept Clin Genet, United Labs, Tartu, Estonia Univ Tartu, Inst Clin Med, Dept Clin Genet, Fac Med, Tartu, EstoniaUdd, Bjarne论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Res Ctr, Helsinki, Finland Tampere Neuromuscular Ctr, Tampere, Finland Univ Tartu, Inst Clin Med, Dept Clin Genet, Fac Med, Tartu, Estonia论文数: 引用数: h-index:机构:
- [43] A De Novo Variant in AKT3 Associated With Megalencephaly and ImmunodeficiencyJOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (SUPPL 1) : S91 - S91ElGhazali, Gehad论文数: 0 引用数: 0 h-index: 0机构: Sheikh Khalifa Med City, Abu Dhabi, U Arab Emirates Sheikh Khalifa Med City, Abu Dhabi, U Arab EmiratesFathallah, Wassem论文数: 0 引用数: 0 h-index: 0机构: Mafraq Hosp, Abu Dhabi, U Arab Emirates Sheikh Khalifa Med City, Abu Dhabi, U Arab EmiratesAl Tenaiji, Amal论文数: 0 引用数: 0 h-index: 0机构: Sheikh Khalifa Med City, Abu Dhabi, U Arab Emirates Sheikh Khalifa Med City, Abu Dhabi, U Arab Emirates
- [44] PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental DisordersGenomics,Proteomics & Bioinformatics, 2019, (04) : 453 - 464Guan Ning Lin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Brain Science and Technology Research Center, Shanghai Jiao Tong University Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversitySijia Guo论文数: 0 引用数: 0 h-index: 0机构: College of Information Science and Technology, Northeast Normal University Institution of Computational Biology, Northeast Normal Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityXian Tan论文数: 0 引用数: 0 h-index: 0机构: College of Information Science and Technology, Northeast Normal University Institution of Computational Biology, Northeast Normal Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityWeidi Wang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityWei Qian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityWeichen Song论文数: 0 引用数: 0 h-index: 0机构: Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityJingru Wang论文数: 0 引用数: 0 h-index: 0机构: College of Information Science and Technology, Northeast Normal University Institution of Computational Biology, Northeast Normal Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityShunying Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityZhen Wang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityDonghong Cui论文数: 0 引用数: 0 h-index: 0机构: Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Brain Science and Technology Research Center, Shanghai Jiao Tong University Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong UniversityHan Wang论文数: 0 引用数: 0 h-index: 0机构: College of Information Science and Technology, Northeast Normal University Institution of Computational Biology, Northeast Normal Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University
- [45] VARPRISM: incorporating variant prioritization in tests of de novo mutation associationGENOME MEDICINE, 2016, 8Hu, Hao论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USACoon, Hilary论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Psychiat, Salt Lake City, UT USA Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USALi, Man论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Human Genet, Salt Lake City, UT USA Univ Utah, USTAR Ctr Genet Discovery, Salt Lake City, UT USA Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USAYandell, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Human Genet, Salt Lake City, UT USA Univ Utah, USTAR Ctr Genet Discovery, Salt Lake City, UT USA Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USAHuff, Chad D.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA
- [46] CONGENITAL NEUROBLASTOMA WITH A DE NOVO, GAIN-OF-FUNCTION VARIANT OF MYCNPEDIATRIC BLOOD & CANCER, 2022, 69Masuda, Saori论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanMatsui, Motohiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanSuzuki, Kyogo论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanYokokawa, Yuichi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanMakimoto, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanFutagawa, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Clin Genet, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanNishio, Yosuke论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Dept Pediat & Neonatol, Grad Sch Med Sci, Nagoya, Aichi, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanKato, Kohji论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Dept Pediat & Neonatol, Grad Sch Med Sci, Nagoya, Aichi, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanSaitoh, Shinji论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Dept Pediat & Neonatol, Grad Sch Med Sci, Nagoya, Aichi, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, JapanYuza, Yuki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, Japan Tokyo Metropolitan Childrens Med Ctr, Dept Hematol Oncol, Tokyo, Japan
- [47] Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic VariantMOLECULAR SYNDROMOLOGY, 2020, 10 (06) : 344 - 347Sanri, Aslihan论文数: 0 引用数: 0 h-index: 0机构: Samsun Training & Res Hosp, Dept Pediat Genet, Samsun, Turkey Samsun Training & Res Hosp, Dept Pediat Genet, Samsun, TurkeyGurkan, Hakan论文数: 0 引用数: 0 h-index: 0机构: Trakya Univ, Fac Med, Dept Med Genet, Edirne, Turkey Samsun Training & Res Hosp, Dept Pediat Genet, Samsun, TurkeyDemir, Selma论文数: 0 引用数: 0 h-index: 0机构: Trakya Univ, Fac Med, Dept Med Genet, Edirne, Turkey Samsun Training & Res Hosp, Dept Pediat Genet, Samsun, Turkey
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- [50] PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental DisordersGENOMICS PROTEOMICS & BIOINFORMATICS, 2019, 17 (04) : 453 - 464Lin, Guan Ning论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China Shanghai Key Lab Psychot Disorders, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Brain Sci & Technol Res Ctr, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaGuo, Sijia论文数: 0 引用数: 0 h-index: 0机构: Northeast Normal Univ, Coll Informat Sci & Technol, Changchun 130117, Peoples R China Northeast Normal Univ, Inst Computat Biol, Changchun 130117, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaTan, Xian论文数: 0 引用数: 0 h-index: 0机构: Northeast Normal Univ, Coll Informat Sci & Technol, Changchun 130117, Peoples R China Northeast Normal Univ, Inst Computat Biol, Changchun 130117, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaWang, Weidi论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China Shanghai Key Lab Psychot Disorders, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaQian, Wei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaSong, Weichen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaWang, Jingru论文数: 0 引用数: 0 h-index: 0机构: Northeast Normal Univ, Coll Informat Sci & Technol, Changchun 130117, Peoples R China Northeast Normal Univ, Inst Computat Biol, Changchun 130117, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaYu, Shunying论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China Shanghai Key Lab Psychot Disorders, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaWang, Zhen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China Shanghai Key Lab Psychot Disorders, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaCui, Donghong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China Shanghai Key Lab Psychot Disorders, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Brain Sci & Technol Res Ctr, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R ChinaWang, Han论文数: 0 引用数: 0 h-index: 0机构: Northeast Normal Univ, Coll Informat Sci & Technol, Changchun 130117, Peoples R China Northeast Normal Univ, Inst Computat Biol, Changchun 130117, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Sch Biomed Engn, Shanghai Mental Hlth Ctr, Shanghai 200030, Peoples R China