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- [21] EFFECTIVENESS OF WHOLE-EXOME SEQUENCING FOR THE IDENTIFICATION OF CAUSAL MUTATIONS IN PATIENTS WITH SUSPECTED INHERITED OCULAR DISEASESREVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 2022, 74 (04): : 219 - 226Ordonez-Labastida, Vianey论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Mexico UNAM, Rare Dis Diagnost Unit, Fac Med, Mexico City, DF, Mexico Autonomous Univ State Morelos UAEM, Fac Med, Leneros, Mexico Univ Autonoma Mexico UNAM, Rare Dis Diagnost Unit, Fac Med, Mexico City, DF, MexicoMontes-Almanza, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Mexico UNAM, Rare Dis Diagnost Unit, Fac Med, Mexico City, DF, Mexico Univ Autonoma Mexico UNAM, Rare Dis Diagnost Unit, Fac Med, Mexico City, DF, MexicoGarcia-Martinez, Froylan论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Mexico UNAM, Rare Dis Diagnost Unit, Fac Med, Mexico City, DF, Mexico Univ Autonoma Mexico UNAM, Rare Dis Diagnost Unit, Fac Med, Mexico City, DF, MexicoZenteno, Juan C.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Mexico UNAM, Rare Dis Diagnost Unit, Fac Med, Mexico City, DF, Mexico Univ Nacl Autonoma Mexico, Dept Biochem, Fac Med, Mexico City, DF, Mexico Univ Autonoma Mexico UNAM, Rare Dis Diagnost Unit, Fac Med, Mexico City, DF, Mexico
- [22] Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degenerationCLINICAL OPHTHALMOLOGY, 2018, 12 : 49 - 63Bryant, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USALozynska, Olga论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USAMaguire, Albert M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USAAleman, Tomas S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USABennett, Jean论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Penn, CARAROT, FM Kirby Ctr Mol Ophthalmol, Scheie Eye Inst,Perelman Sch Med, Philadelphia, PA 19104 USA
- [23] Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome SequencingPLOS ONE, 2015, 10 (05):Han, Soo Min论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaHwang, Byungjin论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Chem, Seoul 120749, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaPark, Tae-Gun论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Dept Chem, Seoul 120749, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaKim, Do-Il论文数: 0 引用数: 0 h-index: 0机构: Inje Univ, Haeundae Paik Hosp, Coll Med, Dept Internal Med,Cardiol Div, Busan, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaRhee, Moo-Yong论文数: 0 引用数: 0 h-index: 0机构: Dongguk Univ, Ilsan Hosp, Cardiovasc Ctr, Goyang, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaLee, Byoung-Kwon论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Gangnam Severance Hosp, Coll Med, Dept Internal Med,Cardiol Div, Seoul 120749, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaAhn, Young Keun论文数: 0 引用数: 0 h-index: 0机构: Chonnam Natl Univ Hosp, Ctr Heart, Gwangju, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaCho, Byung Ryul论文数: 0 引用数: 0 h-index: 0机构: Kangwon Natl Univ, Kangwon Natl Univ Hosp, Coll Med, Dept Internal Med,Cardiol Div, Chunchon, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaWoo, Jeongtaek论文数: 0 引用数: 0 h-index: 0机构: Kyung Hee Univ, Sch Med, Dept Internal Med, Div Endocrinol, Seoul, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaHur, Seung-Ho论文数: 0 引用数: 0 h-index: 0机构: Keimyung Univ, Dongsan Med Ctr, Dept Internal Med, Div Cardiol, Daegu, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South Korea论文数: 引用数: h-index:机构:Park, Sungha论文数: 0 引用数: 0 h-index: 0机构: Severance Cardiovascular Hosp, Dept Internal Med, Div Cardiol, Seoul, South Korea Yonsei Univ, Cardiovasc Res Inst, Seoul 120749, South Korea Yonsei Univ, Cardiovasc Genome Ctr, Hlth Syst, Seoul 120749, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaJang, Yangsoo论文数: 0 引用数: 0 h-index: 0机构: Severance Cardiovascular Hosp, Dept Internal Med, Div Cardiol, Seoul, South Korea Yonsei Univ, Cardiovasc Res Inst, Seoul 120749, South Korea Yonsei Univ, Cardiovasc Genome Ctr, Hlth Syst, Seoul 120749, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaLee, Min Goo论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaBang, Duhee论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaLee, Ji Hyun论文数: 0 引用数: 0 h-index: 0机构: Yonsei Univ, Coll Dent, Dept Oral Biol, Seoul 120749, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South KoreaLee, Sang-Hak论文数: 0 引用数: 0 h-index: 0机构: Severance Cardiovascular Hosp, Dept Internal Med, Div Cardiol, Seoul, South Korea Yonsei Univ, Cardiovasc Res Inst, Seoul 120749, South Korea Yonsei Univ, Cardiovasc Genome Ctr, Hlth Syst, Seoul 120749, South Korea Yonsei Univ, Coll Med, Severance Biomed Sci Inst, Dept Pharmacol,Brain Korea PLUS Project Med Sci 2, Seoul 120749, South Korea
- [24] Exome sequencing as a new approach for genetic screening in inherited retinal degenerationINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)Jin, Zi-Bing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Coll, Div Ophthalm Genet, Wenzhou, Peoples R China Wenzhou Med Coll, Lab Stem Cell & Retinal Regenerat, Wenzhou, Peoples R China Wenzhou Med Coll, Div Ophthalm Genet, Wenzhou, Peoples R ChinaHuang, Xiu-Feng论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Coll, Div Ophthalm Genet, Wenzhou, Peoples R China Wenzhou Med Coll, Div Ophthalm Genet, Wenzhou, Peoples R ChinaXing, Dong-Jun论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Coll, Div Ophthalm Genet, Wenzhou, Peoples R China Wenzhou Med Coll, Div Ophthalm Genet, Wenzhou, Peoples R China
- [25] Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disordersBMC MEDICAL GENOMICS, 2023, 16 (01)Xintong, Zhu论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaKexin, Zhang论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Southwest Hosp, Dept Dermatol, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaJunwen, Wang论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaZiyi, Wang论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaNa, Luo论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Southwest Hosp, Dept Dermatol, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R ChinaHong, Guo论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China Army Med Univ, Coll Basic Med Sci, Dept Med Genet, 30 Gaotanyan St, Chongqing 400038, Peoples R China
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Plasma Prot, Amsterdam, Netherlands Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAde Frutos, Pablo Garcia论文数: 0 引用数: 0 h-index: 0机构: Inst Biochem Res, Dept Cell Death & Proliferat, Barcelona, Spain Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAGnanasambandan, Kavitha论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Med, Dept Physiol & Funct Genom, Gainesville, FL USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAGu, Sean X.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Div Hematol Oncol & Blood & Bone Marrow Transplan, Iowa City, IA USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAHuntington, James A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge, England Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USALentz, Steven R.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Div Hematol Oncol & Blood & Bone Marrow Transplan, Iowa City, IA USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAMertens, Koen论文数: 0 引用数: 0 h-index: 0机构: Sanquin Res, Dept Plasma Prot, Amsterdam, Netherlands Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAParish, Christopher R.论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Dept Canc Biol & Therapeut, Canberra, ACT, Australia Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USARezaie, Alireza R.论文数: 0 引用数: 0 h-index: 0机构: Oklahoma Med Res Fdn, Cardiovasc Biol Res Program, Oklahoma City, OK 73104 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USASayeski, Peter P.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Coll Med, Dept Physiol & Funct Genom, Gainesville, FL USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USACromwell, Caroline论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Div Hematol & Med Oncol, New York, NY USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USABar, Noffar论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Internal Med, Sect Hematol, 333 Cedar St,Box 208028, New Haven, CT 06510 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAHalene, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Internal Med, Sect Hematol, 333 Cedar St,Box 208028, New Haven, CT 06510 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USANeparidze, Natalia论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Internal Med, Sect Hematol, 333 Cedar St,Box 208028, New Haven, CT 06510 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAParker, Terri L.论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Internal Med, Sect Hematol, 333 Cedar St,Box 208028, New Haven, CT 06510 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USABurns, Adrienne J.论文数: 0 引用数: 0 h-index: 0机构: Yale Canc Ctr, New Haven, CT USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USADumont, Anne论文数: 0 引用数: 0 h-index: 0机构: Yale Canc Ctr, New Haven, CT USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAYao, Xiaopan论文数: 0 引用数: 0 h-index: 0机构: Yale Ctr Analyt Sci, New Haven, CT USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAChaar, Cassius Iyad Ochoa论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Surg, Sect Vasc Surg, 333 Cedar St,Box 208028, New Haven, CT 06510 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USAConnors, Jean M.论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Div Hematol, Dept Internal Med, Boston, MA 02115 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USABale, Allen E.论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Genet, DNA Diagnost Lab, 333 Cedar St,Box 208028, New Haven, CT 06510 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USALee, Alfred Ian论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Internal Med, Sect Hematol, 333 Cedar St,Box 208028, New Haven, CT 06510 USA Weill Cornell Med Coll, Div Hematol, Dept Internal Med, New York, NY USA
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