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- [21] Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophiesScientific Reports, 10Arash Salmaninejad论文数: 0 引用数: 0 h-index: 0机构: Mashhad University of Medical Sciences,Department of Medical Genetics and Molecular Medicine, Faculty of MedicineNicola Bedoni论文数: 0 引用数: 0 h-index: 0机构: Mashhad University of Medical Sciences,Department of Medical Genetics and Molecular Medicine, Faculty of MedicineZeinab Ravesh论文数: 0 引用数: 0 h-index: 0机构: Mashhad University of Medical Sciences,Department of Medical Genetics and Molecular Medicine, Faculty of MedicineMathieu Quinodoz论文数: 0 引用数: 0 h-index: 0机构: Mashhad University of Medical Sciences,Department of Medical Genetics and Molecular Medicine, Faculty of MedicineNasser Shoeibi论文数: 0 引用数: 0 h-index: 0机构: Mashhad University of Medical Sciences,Department of Medical Genetics and Molecular Medicine, Faculty of MedicineMajid Mojarrad论文数: 0 引用数: 0 h-index: 0机构: Mashhad University of Medical Sciences,Department of Medical Genetics and Molecular Medicine, Faculty of MedicineAlireza Pasdar论文数: 0 引用数: 0 h-index: 0机构: Mashhad University of Medical Sciences,Department of Medical Genetics and Molecular Medicine, Faculty of MedicineCarlo Rivolta论文数: 0 引用数: 0 h-index: 0机构: Mashhad University of Medical Sciences,Department of Medical Genetics and Molecular Medicine, Faculty of Medicine
- [22] An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous familiesSCIENTIFIC REPORTS, 2017, 7Guo, Ting论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R China Cent South Univ, Res Unit Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Diag & Treatment Ctr Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R ChinaTan, Zhi-Ping论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Ctr Clin Gene Diag & Treatment, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Cardiovasc Surg, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R ChinaChen, Hua-Mei论文数: 0 引用数: 0 h-index: 0机构: Chang Sha Cent Hosp, Dept Resp Med, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R ChinaZheng, Dong-yuan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R China Cent South Univ, Res Unit Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Diag & Treatment Ctr Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R ChinaLiu, Lv论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R China Cent South Univ, Res Unit Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Diag & Treatment Ctr Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R ChinaHuang, Xin-Gang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R China Cent South Univ, Res Unit Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Diag & Treatment Ctr Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R ChinaChen, Ping论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R China Cent South Univ, Res Unit Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Diag & Treatment Ctr Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R ChinaLuo, Hong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R China Cent South Univ, Res Unit Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Diag & Treatment Ctr Resp Dis, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R ChinaYang, Yi-Feng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Ctr Clin Gene Diag & Treatment, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Cardiovasc Surg, Changsha 410011, Hunan, Peoples R China Cent South Univ, Xiangya Hosp 2, Dept Resp Med, Changsha 410011, Hunan, Peoples R China
- [23] Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophiesSCIENTIFIC REPORTS, 2020, 10 (01)论文数: 引用数: h-index:机构:Bedoni, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Lausanne, Div Genet Med, Lausanne, Switzerland Mashhad Univ Med Sci, Fac Med, Dept Med Genet & Mol Med, Mashhad, Razavi Khorasan, IranRavesh, Zeinab论文数: 0 引用数: 0 h-index: 0机构: Univ Leicester, Dept Genet & Genome Biol, Leicester, Leics, England Mashhad Univ Med Sci, Fac Med, Dept Med Genet & Mol Med, Mashhad, Razavi Khorasan, Iran论文数: 引用数: h-index:机构:Shoeibi, Nasser论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Eye Res Ctr, Mashhad, Razavi Khorasan, Iran Mashhad Univ Med Sci, Fac Med, Dept Med Genet & Mol Med, Mashhad, Razavi Khorasan, IranMojarrad, Majid论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Fac Med, Dept Med Genet & Mol Med, Mashhad, Razavi Khorasan, Iran Mashhad Univ Med Sci, Fac Med, Med Genet Res Ctr, Mashhad, Razavi Khorasan, Iran Mashhad Univ Med Sci, Fac Med, Dept Med Genet & Mol Med, Mashhad, Razavi Khorasan, IranPasdar, Alireza论文数: 0 引用数: 0 h-index: 0机构: Mashhad Univ Med Sci, Fac Med, Dept Med Genet & Mol Med, Mashhad, Razavi Khorasan, Iran Mashhad Univ Med Sci, Fac Med, Med Genet Res Ctr, Mashhad, Razavi Khorasan, Iran Univ Aberdeen, Med Sch, Div Appl Med, Aberdeen, Scotland Mashhad Univ Med Sci, Fac Med, Dept Med Genet & Mol Med, Mashhad, Razavi Khorasan, Iran论文数: 引用数: h-index:机构:
- [24] An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous familiesScientific Reports, 7Ting Guo论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya HospitalZhi-Ping Tan论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya HospitalHua-Mei Chen论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya HospitalDong-yuan Zheng论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya HospitalLv liu论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya HospitalXin-Gang Huang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya HospitalPing Chen论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya HospitalHong Luo论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya HospitalYi-Feng Yang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Respiratory Medicine, the Second Xiangya Hospital
- [25] Whole-exome sequencing identifies rare recessive variants in azoospermia patients from consanguineous Pakistani familiesMOLECULAR GENETICS AND GENOMICS, 2024, 299 (01)Uddin, Islam论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R China Univ Sci & Technol China USTC, Ctr Adv Interdisciplinary Sci & Biomed IHM, Biomed Sci & Hlth Lab Anhui Prov, Hefei Natl Lab Phys Sci Microscale, Hefei, Anhui, Peoples R China Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R ChinaZafar, Iqra论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R China Univ Sci & Technol China USTC, Ctr Adv Interdisciplinary Sci & Biomed IHM, Biomed Sci & Hlth Lab Anhui Prov, Hefei Natl Lab Phys Sci Microscale, Hefei, Anhui, Peoples R China Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R ChinaXu, Caoling论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R China Univ Sci & Technol China USTC, Ctr Adv Interdisciplinary Sci & Biomed IHM, Biomed Sci & Hlth Lab Anhui Prov, Hefei Natl Lab Phys Sci Microscale, Hefei, Anhui, Peoples R China Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R ChinaLi, Wenqing论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R China Univ Sci & Technol China USTC, Ctr Adv Interdisciplinary Sci & Biomed IHM, Biomed Sci & Hlth Lab Anhui Prov, Hefei Natl Lab Phys Sci Microscale, Hefei, Anhui, Peoples R China Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R ChinaKhan, Muhammad Imran论文数: 0 引用数: 0 h-index: 0机构: Univ Agr Peshawar, Fac Anim Husb & Vet Sci, Discipline Physiol, Peshawar, Pakistan Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R ChinaWu, Limin论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R China Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R ChinaBao, Jianqiang论文数: 0 引用数: 0 h-index: 0机构: Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R China Univ Sci & Technol China USTC, Ctr Adv Interdisciplinary Sci & Biomed IHM, Biomed Sci & Hlth Lab Anhui Prov, Hefei Natl Lab Phys Sci Microscale, Hefei, Anhui, Peoples R China Univ Sci & Technol China, Affiliated Hosp USTC 1, Ctr Reprod & Genet, Div Life Sci & Med, Hefei 230001, Anhui, Peoples R China
- [26] Whole exome sequencing in patients with congenital cataractsACTA OPHTHALMOLOGICA, 2015, 93Liskova, P.论文数: 0 引用数: 0 h-index: 0
- [27] Whole exome sequencing in patients with congenital myopathiesNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 895 - 895Zaharieva, I. T.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandColombo, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Milan, Italy UCL, London, EnglandSframeli, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandSigurosson, J. H.论文数: 0 引用数: 0 h-index: 0机构: DeCODE Genet, Reykjavik, Iceland UCL, London, EnglandFeng, L.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandPhadke, R.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandSewry, C. A.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandMorgan, J. E.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England UCL, London, England
- [28] A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome SequencingFRONTIERS IN GENETICS, 2021, 12de Araujo dos Santos, Carolina Maria论文数: 0 引用数: 0 h-index: 0机构: GENE Nucleo Genet Med, Belo Horizonte, MG, Brazil GENE Nucleo Genet Med, Belo Horizonte, MG, BrazilHeller, Ana Helena论文数: 0 引用数: 0 h-index: 0机构: GENE Nucleo Genet Med, Belo Horizonte, MG, Brazil GENE Nucleo Genet Med, Belo Horizonte, MG, BrazilPena, Heloisa Barbosa论文数: 0 引用数: 0 h-index: 0机构: GENE Nucleo Genet Med, Belo Horizonte, MG, Brazil GENE Nucleo Genet Med, Belo Horizonte, MG, BrazilJunho Pena, Sergio Danilo论文数: 0 引用数: 0 h-index: 0机构: GENE Nucleo Genet Med, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Lab Genom Clin, Fac Med, Belo Horizonte, MG, Brazil Univ Fed Minas Gerais, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil GENE Nucleo Genet Med, Belo Horizonte, MG, Brazil
- [29] Applying whole exome sequencing in a consanguineous population with autism spectrum disorderINTERNATIONAL JOURNAL OF DEVELOPMENTAL DISABILITIES, 2023, 69 (02) : 190 - 200Al-Mamari, Watfa论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, Oman论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Abdulrahim, Reem论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Genet Dept, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, OmanJalees, Saquib论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, OmanAl-Jabri, Muna论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Dept Nursing, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, OmanGabr, Ahlam论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, Oman论文数: 引用数: h-index:机构:Al Kindy, Adila论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Genet Dept, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, OmanAl-Hadabi, Intisar论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Dept Nursing, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, OmanBruwer, Zandre论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Genet Dept, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, OmanIslam, M. Mazharul论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ, Coll Sci, Dept Stat, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, OmanAlsayegh, Abeer论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Genet Dept, Muscat, Oman Sultan Qaboos Univ Hosp, Child Hlth Dept, Dev Pediat Unit, Muscat, Oman
- [30] Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney diseasePEDIATRIC NEPHROLOGY, 2022, 37 (11) : 2657 - 2665Hertz, Jens Michael论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, Denmark Univ Southern Denmark, Dept Clin Res, Odense, Denmark Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, DenmarkSvenningsen, Per论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Inst Mol Med, Dept Cardiovasc & Renal Res, Odense, Denmark Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, DenmarkDimke, Henrik论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Inst Mol Med, Dept Cardiovasc & Renal Res, Odense, Denmark Odense Univ Hosp, Dept Nephrol, Odense, Denmark Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, DenmarkEngelund, Morten Buch论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, Denmark Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, DenmarkNorgaard, Hanne论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Dept Pediat, Copenhagen, Denmark Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, DenmarkHansen, Anita论文数: 0 引用数: 0 h-index: 0机构: Pediat Clin, Vestergade 21, Koge, Denmark Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, DenmarkMarcussen, Niels论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Dept Clin Res, Odense, Denmark Odense Univ Hosp, Dept Clin Pathol, Odense, Denmark Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, Denmark论文数: 引用数: h-index:机构:Bergmann, Carsten论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Freiburg, Dept Med, Freiburg, Germany Med Genet Mainz, Limbach Genet, Mainz, Germany Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, DenmarkLarsen, Martin J.论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, Denmark Univ Southern Denmark, Dept Clin Res, Odense, Denmark Odense Univ Hosp, Dept Clin Genet, JB Winslows Vej 4, DK-5000 Odense C, Denmark