共 50 条
- [41] Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?CLINICAL GENETICS, 2013, 83 (01) : 53 - 65Shoukier, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyKlein, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyAuber, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany MVZ GenteQ, Zentrum Humangenet, Hamburg, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyWickert, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanySchroeder, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyZoll, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyBurfeind, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyBartels, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyAlsat, E. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyLingen, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyGrzmil, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Jagiellonian Univ, Dept Genet & Evolut, Krakow, Poland Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanySchulze, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyKeyser, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyWeise, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyBorchers, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyHobbiebrunken, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyRoebl, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyGaertner, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyBrockmann, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyZirn, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany
- [42] Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective studyHUMAN MUTATION, 2022, 43 (05) : 568 - 581Sun, Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaPeng, Jing论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Clin Res Ctr Children Neurodev Disabil Hunan Prov, Changsha, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaLiang, Desheng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410078, Peoples R China Cent South Univ, Hunan Key Lab Med Genet, Sch Life Sci, Changsha 410078, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaYe, Xiantao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaXu, Na论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaChen, Linlin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaYan, Dan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaZhang, Huiwen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaXiao, Bing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaQiu, Wenjuan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaShen, Yiping论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaPang, Nan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Pediat, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Clin Res Ctr Children Neurodev Disabil Hunan Prov, Changsha, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaLiu, Yingdi论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410078, Peoples R China Cent South Univ, Hunan Key Lab Med Genet, Sch Life Sci, Changsha 410078, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaLiang, Chen论文数: 0 引用数: 0 h-index: 0机构: Jiangmen Matern & Child Hlth Care Hosp, Dept Med Genet, Jiangmen, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaQin, Zailong论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaLuo, Jingsi论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaChen, Fei论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Genet & Metab Cent Lab, Nanning, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaWang, Jingmin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaZhang, Zhixin论文数: 0 引用数: 0 h-index: 0机构: China Japan Friendship Hosp, Dept Pediat, Beijing, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaWei, Haiyan论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Endocrinol & Inherited Metab, Childens Hosp, Zhengzhou, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaDu, Juan论文数: 0 引用数: 0 h-index: 0机构: Reprod & Genet Hosp CITIC Xiangya, Changsha, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaYan, Huifang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaDuan, Ruoyu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaWang, Junyu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaZhang, Yu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaLiao, Shixiu论文数: 0 引用数: 0 h-index: 0机构: Henan Prov Peoples Hosp, Dept Obstet & Gynecol, Zhengzhou, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaSun, Kun论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Clin Genet, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaWu, Lingqian论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Changsha 410078, Peoples R China Cent South Univ, Hunan Key Lab Med Genet, Sch Life Sci, Changsha 410078, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R ChinaYu, Yongguo论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China Shanghai Inst Pediat Res, Dept Mol Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Pediat Endocrinol & Genet Metab, Shanghai, Peoples R China
- [43] ExomeHMM: A Hidden Markov Model for Detecting Copy Number Variation Using Whole-Exome Sequencing DataCURRENT BIOINFORMATICS, 2017, 12 (02) : 147 - 155Guo, Cheng论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Anhui, Peoples R China Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Anhui, Peoples R ChinaYu, Zhenhua论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Anhui, Peoples R China Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Anhui, Peoples R ChinaWang, Minghui论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Anhui, Peoples R China Univ Sci & Technol China, Res Ctr Biomed Engn, Hefei, Anhui, Peoples R China Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Anhui, Peoples R ChinaLi, Ao论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Anhui, Peoples R China Univ Sci & Technol China, Res Ctr Biomed Engn, Hefei, Anhui, Peoples R China Univ Sci & Technol China, Sch Informat Sci & Technol, Hefei 230027, Anhui, Peoples R China
- [44] Homozygous variant of PGAP1 as a cause of severe developmental delay and intellectual disability identified by Exome sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 927 - 927Sheth, F. J.论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaTewari, S.论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaAndrieux, J.论文数: 0 引用数: 0 h-index: 0机构: Lab Med Genet, Lille, France FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaLiehr, T.论文数: 0 引用数: 0 h-index: 0机构: Jena Univ Hosp, Jena, Germany FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaGabu, K. M.论文数: 0 引用数: 0 h-index: 0机构: Akshar Womens Hosp, Botad, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaDesai, M.论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaMistri, M.论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaPatel, B.论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaValodara, A.论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaTrivedi, S.论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, IndiaSheth, J.论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India FRIGEs Inst Human Genet, Ahmadabad, Gujarat, India
- [45] A next generation sequencing solution to detect copy number variants, single nucleotide variants and loss of heterozygosity in intellectual disability and developmental delay samplesEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 345 - 345Reid, J.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandKachhia, S.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandDougall, P.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandShovelton, J.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandMolha, D.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandKasturiarachchi, J.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandHoldstock, J.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandMarek, E.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandPullabhatla, V.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandParkes, L.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, EnglandHurd, D.论文数: 0 引用数: 0 h-index: 0机构: Oxford Gene Technol, Oxford, England Oxford Gene Technol, Oxford, England
- [46] Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approachJournal of Human Genetics, 2015, 60 : 175 - 182Satoko Miyatake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsEriko Koshimizu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsAtsushi Fujita论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsRyoko Fukai论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsEri Imagawa论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsChihiro Ohba论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsIchiro Kuki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMegumi Nukui论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsAtsushi Araki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsYoshio Makita论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsTsutomu Ogata论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMitsuko Nakashima论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsYoshinori Tsurusaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNoriko Miyake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human Genetics
- [47] Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approachJOURNAL OF HUMAN GENETICS, 2015, 60 (04) : 175 - 182Miyatake, Satoko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanKoshimizu, Eriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanFujita, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanFukai, Ryoko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanImagawa, Eri论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanOhba, Chihiro论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanKuki, Ichiro论文数: 0 引用数: 0 h-index: 0机构: Osaka City Gen Hosp, Dept Pediat Neurol, Pediat Med Care Ctr, Osaka, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanNukui, Megumi论文数: 0 引用数: 0 h-index: 0机构: Osaka City Gen Hosp, Dept Pediat Neurol, Pediat Med Care Ctr, Osaka, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanAraki, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Kansai Med Univ, Dept Pediat, Hirakata, Osaka, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanMakita, Yoshio论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Med Univ, Educ Ctr, Asahikawa, Hokkaido, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanOgata, Tsutomu论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ, Dept Pediat, Hamamatsu, Shizuoka 4312102, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanTsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Matsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan
- [48] Global Developmental Delay and Intellectual Disability in Indian Children–Where do we Stand?Indian Pediatrics, 2018, 55 : 1083 - 1085Dipti Kapoor论文数: 0 引用数: 0 h-index: 0机构: Lady Hardinge Medical College and Associated Hospitals,Department of PediatricsSharmila B Mukherjee论文数: 0 引用数: 0 h-index: 0机构: Lady Hardinge Medical College and Associated Hospitals,Department of Pediatrics
- [49] Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay PatientsFRONTIERS IN GENETICS, 2020, 11Xiao, Bing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R ChinaYe, Xiantao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R ChinaWang, Lili论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R ChinaFan, Yanjie论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R ChinaGu, Xuefan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R ChinaJi, Xing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R ChinaSun, Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R ChinaYu, Yongguo论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China Shanghai Key Lab Pediat Gastroenterol & Nutr, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Dept Pediat Endocrinol & Genet Metab, Shanghai Inst Pediat Res,Sch Med, Shanghai, Peoples R China
- [50] A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic FeaturesCUREUS JOURNAL OF MEDICAL SCIENCE, 2019, 11 (01)Vickers, Ramiah R.论文数: 0 引用数: 0 h-index: 0机构: Univ Cent Florida, Coll Med, Genet, Orlando, FL 32816 USA Univ Cent Florida, Coll Med, Genet, Orlando, FL 32816 USAGibson, Jane S.论文数: 0 引用数: 0 h-index: 0机构: Univ Cent Florida, Coll Med, Pathol, Orlando, FL 32816 USA Univ Cent Florida, Coll Med, Genet, Orlando, FL 32816 USA