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- [1] Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneityBMC MEDICAL GENETICS, 2013, 14DaRe, Jeana T.论文数: 0 引用数: 0 h-index: 0机构: Transgenomic Inc, New Haven, CT 06511 USA Transgenomic Inc, New Haven, CT 06511 USAVasta, Valeria论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Res Inst, Seattle, WA 98101 USA Transgenomic Inc, New Haven, CT 06511 USAPenn, John论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Res Inst, Seattle, WA 98101 USA Transgenomic Inc, New Haven, CT 06511 USATran, Nguyen-Thao B.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Res Inst, Seattle, WA 98101 USA Transgenomic Inc, New Haven, CT 06511 USAHahn, Si Houn论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Res Inst, Seattle, WA 98101 USA Univ Washington, Sch Med, Seattle Childrens Hosp, Dept Pediat,Div Genet Med, Seattle, WA 98105 USA Transgenomic Inc, New Haven, CT 06511 USA
- [2] EXOME SEQUENCING REVEALS GENETIC HETEROGENEITY OF NEPHROTIC SYNDROMENEPHROLOGY DIALYSIS TRANSPLANTATION, 2015, 30论文数: 引用数: h-index:机构:Soderquest, Katrina论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Expt Immunobiol, London WC2R 2LS, England Univ Bristol, Bristol Renal, Bristol, Avon, EnglandMcCarthy, Hugh J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Bristol Renal, Bristol, Avon, England Univ Bristol, Bristol Renal, Bristol, Avon, EnglandSen, Ethan论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Bristol Renal, Bristol, Avon, England Univ Bristol, Bristol Renal, Bristol, Avon, EnglandColby, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Bristol Renal, Bristol, Avon, England Univ Bristol, Bristol Renal, Bristol, Avon, EnglandSimpson, Michael论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Med & Mol Genet, London WC2R 2LS, England Univ Bristol, Bristol Renal, Bristol, Avon, England论文数: 引用数: h-index:机构:Koziell, Ania B.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Expt Immunobiol, London WC2R 2LS, England Univ Bristol, Bristol Renal, Bristol, Avon, EnglandSaleem, Moin A.论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Bristol Renal, Bristol, Avon, England Univ Bristol, Bristol Renal, Bristol, Avon, England
- [3] Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disordersAMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2024,Bibi, Anisa论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, Pakistan Yale Univ, Sch Med, Dept Pediat, Pediat Genom Discovery Program, New Haven, CT USA Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, PakistanJi, Weizhen论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genom Discovery Program, New Haven, CT USA Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, PakistanJeffries, Lauren论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genom Discovery Program, New Haven, CT USA Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, PakistanZerillo, Cynthia论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genom Discovery Program, New Haven, CT USA Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, PakistanKonstantino, Monica论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genom Discovery Program, New Haven, CT USA Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, PakistanMis, Emily K.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genom Discovery Program, New Haven, CT USA Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, PakistanKhursheed, Filza论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, Pakistan Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, PakistanKhokha, Mustafa K.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genom Discovery Program, New Haven, CT USA Yale Univ, Dept Genet, Sch Med, New Haven, CT USA Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, PakistanLakhani, Saquib A.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Pediat, Pediat Genom Discovery Program, New Haven, CT USA Quaid I Azam Univ, Dept Zool, Human Genet Program, Islamabad, Pakistan论文数: 引用数: h-index:机构:
- [4] Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlationsScientific Reports, 12 (1)Dajeong Jeong论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineSung-Min Kim论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineByung Joo Min论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineJu Han Kim论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineYoung Seok Ju论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineYong-Oon Ahn论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineJiwon Yun论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineYoung Eun Lee论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineSeok Ryun Kwon论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineJae Hyeon Park论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineJong Hyun Yoon论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory MedicineDong Soon Lee论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Department of Laboratory Medicine
- [5] Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathiesGENETICS IN MEDICINE, 2019, 21 (03) : 663 - 675Yuan, Bo论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USANeira, Juanita论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPehlivan, Davut论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASantiago-Sim, Teresa论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASong, Xiaofei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARosenfeld, Jill论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPosey, Jennifer E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPatel, Vipulkumar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, Houston, TX 77030 USAJin, Weihong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, Houston, TX 77030 USAAdam, Margaret P.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Seattle, WA 98105 USA Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98105 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABaple, Emma L.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Royal Devon & Exeter NHS Fdn Trust, Barrack Rd, Exeter EX2 5DW, Devon, England Royal Devon & Exeter Hosp, Peninsula Clin Genet Serv, Gladstone Rd, Exeter EX1 2ED, Devon, England Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADean, John论文数: 0 引用数: 0 h-index: 0机构: NHS Grampian, Clin Genet Serv, Aberdeen AB25 2ZA, Scotland Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAFong, Chin-To论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Pediat, Rochester, NY 14642 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHickey, Scott E.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Dept Pediat, Columbus, OH 43205 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHudgins, Louanne论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Div Med Genet, Stanford, CA 94305 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALeon, Eyby论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Rare Dis Inst, Washington, DC 20010 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMadan-Khetarpal, Suneeta论文数: 0 引用数: 0 h-index: 0机构: UPMC, Childrens Hosp Pittsburgh, Pittsburgh, PA 15224 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARawlins, Lettie论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Royal Devon & Exeter NHS Fdn Trust, Barrack Rd, Exeter EX2 5DW, Devon, England Royal Devon & Exeter Hosp, Peninsula Clin Genet Serv, Gladstone Rd, Exeter EX1 2ED, Devon, England Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARustad, Cecilie F.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, N-0424 Oslo, Norway Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAStray-Pedersen, Asbjorg论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Norwegian Natl Unit Newborn Screening, Div Pediat & Adolescent Med, N-0424 Oslo, Norway Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USATveten, Kristian论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWenger, Olivia论文数: 0 引用数: 0 h-index: 0机构: New Leaf Ctr, Clin Special Children, Mt Eaton, OH 44659 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADiaz, Jullianne论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Rare Dis Inst, Washington, DC 20010 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJenkins, Laura论文数: 0 引用数: 0 h-index: 0机构: UPMC, Childrens Hosp Pittsburgh, Pittsburgh, PA 15224 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMartin, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Pediat, Rochester, NY 14642 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMcGuire, Marianne论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPietryga, Marguerite论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARamsdell, Linda论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Seattle, WA 98105 USA Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98105 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASlattery, Leah论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Div Med Genet, Stanford, CA 94305 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAAbid, Farida论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABertuch, Alison A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Immken, LaDonna论文数: 0 引用数: 0 h-index: 0机构: Dell Childrens Med Ctr Cent Texas, Austin, TX 78723 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASchaaf, Christian P.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Univ Hosp Cologne, Inst Human Genet, Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany Univ Hosp Cologne, Ctr Rare Dis, Cologne, Germany Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAVan Esch, Hilde论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Human Genet, Ctr Human Genet, B-3000 Leuven, Belgium Baylor Coll Med, Dept Mol & Human Genet, 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, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACheung, Sau Wai论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABreman, Amy M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASmith, Janice L.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAShaw, Chad论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACrosby, Andrew H.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, RILD Wellcome Wolfson Ctr, Royal Devon & Exeter NHS Fdn Trust, Barrack Rd, Exeter EX2 5DW, Devon, England Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAEng, Christine论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, 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, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, 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, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, 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, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
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