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- [21] Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectGENETICS IN MEDICINE, 2016, 18 (02) : 189 - 198D'Alessandro, Lisa C. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaAl Turki, Saeed论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England King Abdul Aziz Med City, Dept Pathol, Riyadh, Saudi Arabia Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaManickaraj, Ashok Kumar论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaManase, Dorin论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaMulder, Barbara J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Ctr Heart, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaBergin, Lynn论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Dept Med, Div Cardiol, London, ON, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaRosenberg, Herschel C.论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Dept Paediat, London, ON, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaMondal, Tapas论文数: 0 引用数: 0 h-index: 0机构: Hamilton Hlth Sci Ctr, Dept Pediat, Hamilton, ON, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaGordon, Elaine论文数: 0 引用数: 0 h-index: 0机构: Hamilton Hlth Sci Ctr, Dept Med, Div Cardiol, Hamilton, ON, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaLougheed, Jane论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Pediat, Div Cardiol, Ottawa, ON K1H 8L1, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaSmythe, John论文数: 0 引用数: 0 h-index: 0机构: Kingston Gen Hosp, Dept Pediat, Kingston, ON K7L 2V7, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaDevriendt, Koen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Leuven, Belgium Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaBhattacharya, Shoumo论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Radcliffe Dept Med, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaWatkins, Hugh论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Radcliffe Dept Med, Oxford, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaBentham, Jamie论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Cardiol, Boston, MA USA Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaBowdin, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Genet, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaHurles, Matthew E.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, CanadaMital, Seema论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, Canada Univ Toronto, Hosp Sick Children, Dept Pediat, Div Cardiol, Toronto, ON M5G 1X8, Canada
- [22] Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone familiesPLOS ONE, 2022, 17 (01):Fidalgo, Felipe论文数: 0 引用数: 0 h-index: 0机构: AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, BrazilTorrezan, Giovana Tardin论文数: 0 引用数: 0 h-index: 0机构: AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, Brazil Natl Inst Sci & Technol Oncogen & Therapeut Innov, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, BrazilSoares de Sa, Bianca Costa论文数: 0 引用数: 0 h-index: 0机构: AC Camargo Canc Ctr, Skin Canc Dept, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, Brazilde Figueiredo Barros, Bruna Duraes论文数: 0 引用数: 0 h-index: 0机构: AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, BrazilMoredo, Luciana Facure论文数: 0 引用数: 0 h-index: 0机构: AC Camargo Canc Ctr, Skin Canc Dept, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, BrazilValieris, Renan论文数: 0 引用数: 0 h-index: 0机构: AC Camargo Canc Ctr, CIPE, Int Res Ctr, Lab Bioinformat & Computat Biol, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, Brazilde Souza, Sandro J.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Sci & Technol Oncogen & Therapeut Innov, Sao Paulo, Brazil Univ Fed Rio Grande do Norte, Bioinformat Multidisciplinary Environm, Natal, RN, Brazil Univ Fed Rio Grande do Norte, Brain Inst, Natal, RN, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, BrazilDuprat, Joao Pereira论文数: 0 引用数: 0 h-index: 0机构: AC Camargo Canc Ctr, Skin Canc Dept, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, BrazilVictorino Krepischi, Ana Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Dept Genet & Evolutionary Biol, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, BrazilCarraro, Dirce Maria论文数: 0 引用数: 0 h-index: 0机构: AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, Brazil Natl Inst Sci & Technol Oncogen & Therapeut Innov, Sao Paulo, Brazil AC Camargo Canc Ctr, CIPE, Int Res Ctr, Genom & Mol Biol Grp, Sao Paulo, Brazil
- [23] Whole Exome Sequencing of Distant Relatives in Multiplex Families Implicates Rare Variants in Candidate Genes for Oral CleftsGENETICS, 2014, 197 (03) : 1039 - +Bureau, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, Canada Univ Laval, Dept Med Sociale & Prevent, Quebec City, PQ G1V 0A6, Canada Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaParker, Margaret M.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaRuczinski, Ingo论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21205 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaTaub, Margaret A.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21205 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaMarazita, Mary L.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Sch Dent Med, Dept Oral Biol, Pittsburgh, PA 15219 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaMurray, Jeffrey C.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Sch Med, Dept Pediat, Iowa City, IA 52242 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaMangold, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53111 Bonn, Germany Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaNoethen, Markus M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53111 Bonn, Germany Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaLudwig, Kirsten U.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-53111 Bonn, Germany Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaHetmanski, Jacqueline B.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaBailey-Wilson, Joan E.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Inherited Dis Res Branch, NIH, Baltimore, MD 21121 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaCropp, Cheryl D.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Inherited Dis Res Branch, NIH, Baltimore, MD 21121 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaLi, Qing论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Inherited Dis Res Branch, NIH, Baltimore, MD 21121 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaSzymczak, Silke论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Inherited Dis Res Branch, NIH, Baltimore, MD 21121 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaAlbacha-Hejazi, Hasan论文数: 0 引用数: 0 h-index: 0机构: Hejazi Clin, Riyadh 11461, Saudi Arabia Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaAlqosayer, Khalid论文数: 0 引用数: 0 h-index: 0机构: Prime Hlth Clin Jeddah, Riyadh 21511, Saudi Arabia Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaField, L. Leigh论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z3, Canada Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaWu-Chou, Yah-Huei论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Lab Human Mol Genet, Taoyuan 333, Taiwan Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaDoheny, Kimberly F.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Ctr Inherited Dis Res, Baltimore, MD 21224 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaLing, Hua论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Ctr Inherited Dis Res, Baltimore, MD 21224 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaScott, Alan F.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Sch Med, Inst Med Genet, Baltimore, MD 21224 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, CanadaBeaty, Terri H.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD 21205 USA Univ Laval, Inst Univ Sante Mentale Quebec, Ctr Rech, Quebec City, PQ G1V 0A6, Canada
- [24] Whole-exome sequencing identifies rare, functional CFHvariants in families with macular degenerationHUMAN MOLECULAR GENETICS, 2014, 23 (19) : 5283 - 5293Yu, Yi论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USATriebwasser, Michael P.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Med, Div Rheumatol, St Louis, MO 63110 USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USAWong, Edwin K. S.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USASchramm, Elizabeth C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Med, Div Rheumatol, St Louis, MO 63110 USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USAThomas, Brett论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USAReynolds, Robyn论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USAMardis, Elaine R.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Genome Inst, St Louis, MO USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USAAtkinson, John P.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Med, Div Rheumatol, St Louis, MO 63110 USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USADaly, Mark论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USA论文数: 引用数: h-index:机构:Kavanagh, David论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Med Genet, Int Ctr Life, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USASeddon, Johanna M.论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USA Tufts Univ, Sch Med, Dept Ophthalmol, Boston, MA 02111 USA Tufts Univ, Sackler Sch Grad Med Sci, Boston, MA 02111 USA Tufts Med Ctr, New England Eye Ctr, Ophthalm Epidemiol & Genet Serv, Boston, MA 02111 USA
- [25] Whole-exome sequencing study identifies rare variants associated with intraocular pressureINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)Lin, Yizi论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43210 USA Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43210 USAWilliams, Kara论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43210 USA Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43210 USAMoroi, Sayoko E.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43210 USA Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43210 USAGao, Xiaoyi Raymond论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43210 USA Ohio State Univ, Dept Biomed Informat, Columbus, OH 43210 USA Ohio State Univ, Div Human Genet, Columbus, OH 43210 USA Ohio State Univ, Dept Ophthalmol & Visual Sci, Columbus, OH 43210 USA
- [26] Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82Nature Communications, 13Stephanie O. Erjavec论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & DevelopmentSahar Gelfman论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & DevelopmentAlexa R. Abdelaziz论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & DevelopmentEunice Y. Lee论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & DevelopmentIsha Monga论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & DevelopmentAnna Alkelai论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & DevelopmentIuliana Ionita-Laza论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & DevelopmentLynn Petukhova论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & DevelopmentAngela M. Christiano论文数: 0 引用数: 0 h-index: 0机构: Columbia University,Department of Genetics & Development
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