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- [21] Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed pubertynpj Genomic Medicine, 6Tansit Saengkaew论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry论文数: 引用数: h-index:机构:Alessia David论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and DentistryAlessandra Mancini论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and DentistryKatia Mariniello论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and DentistryClaudia P. Cabrera论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and DentistryMichael R. Barnes论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and DentistryLeo Dunkel论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and DentistryLeonardo Guasti论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and DentistrySasha R. Howard论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry
- [22] Whole exome sequencing identifies novel genetic variants associated with syndromic Tetralogy of FallotEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1392 - 1392Toth-Szumutku, Fanni论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, HungaryKun, Ilona论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, HungaryLengyel, Anna论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, HungaryPinti, Eva论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, HungaryNemeth, Krisztina论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, HungaryAbonyi, Tunde论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, HungaryRyu, Seung Woo论文数: 0 引用数: 0 h-index: 0机构: Billion Inc, Seoul, South Korea Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, HungarySong, Yongjun论文数: 0 引用数: 0 h-index: 0机构: Billion Inc, Seoul, South Korea Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Haltrich, Iren论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, HungaryKovacs, Arpad Ferenc论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary Semmelweis Univ, Tuzolto St Dept, Pediat Ctr, Budapest, Hungary
- [23] Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed pubertyNPJ GENOMIC MEDICINE, 2021, 6 (01)论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Cabrera, Claudia P.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Ctr Translat Bioinformat, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England Queen Mary Univ London, NIHR Barts Cardiovasc Biomed Res Ctr, Barts & London Sch Med & Dent, London, England Queen Mary Univ London, Ctr Endocrinol, Barts & London Sch Med & Dent, William Harvey Res Inst, London, EnglandBarnes, Michael R.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Ctr Translat Bioinformat, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England Queen Mary Univ London, NIHR Barts Cardiovasc Biomed Res Ctr, Barts & London Sch Med & Dent, London, England Queen Mary Univ London, Ctr Endocrinol, Barts & London Sch Med & Dent, William Harvey Res Inst, London, EnglandDunkel, Leo论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Ctr Endocrinol, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England Queen Mary Univ London, Ctr Endocrinol, Barts & London Sch Med & Dent, William Harvey Res Inst, London, EnglandGuasti, Leonardo论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Ctr Endocrinol, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England Queen Mary Univ London, Ctr Endocrinol, Barts & London Sch Med & Dent, William Harvey Res Inst, London, EnglandHoward, Sasha R.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Ctr Endocrinol, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England Queen Mary Univ London, Ctr Endocrinol, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England
- [24] Whole Exome Sequencing Identifies Novel Genetic Variants in Left Ventricular Noncompaction CardiomyopathyCIRCULATION, 2018, 138论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Zhang, Wenying论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Pediat, Cincinnati, OH 45229 USA Univ Tennessee Hlth Scie, Pediat, Memphis, TN USALu, Lu论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee Hlth Scie, Genet Genom & Informat, Memphis, TN USA Univ Tennessee Hlth Scie, Pediat, Memphis, TN USATowbin, Jeffrey A.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee Hlth Scie, Pediat, Memphis, TN USA Univ Tennessee Hlth Scie, Pediat, Memphis, TN USA论文数: 引用数: h-index:机构:
- [25] Whole-exome sequencing identifies rare genetic variants that may contribute to isoniazid (INH)-induced liver injuryHEPATOLOGY, 2012, 56 : 593A - 594AUrban, Thomas J.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USAShianna, Kevin论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USABarnhart, Huiman X.论文数: 0 引用数: 0 h-index: 0机构: Duke Clin Res Inst, Durham, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USAChalasani, Naga P.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Div Gastroenterol & Hepatol, Indianapolis, IN USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USAFontana, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Ctr, Div Gastroenterol, Ann Arbor, MI USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USASerrano, Jose论文数: 0 引用数: 0 h-index: 0机构: NIDDKD, Bethesda, MD 20892 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USAStolz, Andrew论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Keck Sch Med, Div Gastrointestinal & Liver Dis, Los Angeles, CA 90033 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USAWatkins, Paul B.论文数: 0 引用数: 0 h-index: 0机构: Hamner Univ N Carolina, Inst Drug Safety Sci, Res Triangle Pk, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA
- [26] Whole-exome sequencing for the discovery of rare genetic variants that protect from coronary artery diseaseCORONARY ARTERY DISEASE, 2016, 27 (04) : 253 - 254Leopold, Jane A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Brigham & Womens Hosp, Sch Med, Boston, MA 02115 USA Harvard Univ, Brigham & Womens Hosp, Sch Med, Boston, MA 02115 USA
- [27] Rare pathogenic variants in whole exome sequencing data of Bulgarian Alzheimer's disease patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 197 - 198Karachanak-Yankova, Sena论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria Sofia Univ St Kliment Ohridski, Dept Genet, Fac Biol, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaNikolova, Dragomira论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaMihaylova, Marta论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaSerbezov, Dimitar论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaBalabanski, Lubomir论文数: 0 引用数: 0 h-index: 0机构: Gynecol & assisted Reprod Hosp Malinov, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Rukova, Blaga论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaNesheva, Desislava论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaJosifovska, Slavica论文数: 0 引用数: 0 h-index: 0机构: Ss Cyril & Methodius Univ, Fac Nat Sci & Math, Mol Biol Lab, Skopje, North Macedonia Med Univ Sofia, Dept Med Genet, Sofia, BulgariaBelejanska, Diana论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, UH Alexandrovska, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaPetrova, Mariya论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, UH Alexandrovska, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaMehrabian, Shima论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, UH Alexandrovska, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaTraykov, Latchezar论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, UH Alexandrovska, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaHadjidekova, Savina论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, BulgariaToncheva, Draga论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria Med Univ Sofia, Dept Med Genet, Sofia, Bulgaria
- [28] Genetic variants in familial abdominal aortic aneurysms identified by Whole Genome and Exome sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 257 - 258IJpma, A.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Bioinformat, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, NetherlandsHeijsman, D.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, NetherlandsBruggenwirth, H.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, Netherlandsvan den Boogert, I.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, NetherlandsMajoor-Krakauer, D.论文数: 0 引用数: 0 h-index: 0机构: Dept Clin Genet, Rotterdam, Netherlands Dept Clin Genet, Rotterdam, Netherlands
- [29] Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemiaCANCER RESEARCH, 2012, 72Healy, Jasmine论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaSaillour, Virginie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaSpinella, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaVidal, Ramon论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaBareke, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaRicher, Chantal论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaLariviere, Mathieu论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaBusche, Stephan论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal, PQ, Canada Genome Quebec Innovat Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaGe, Bing论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal, PQ, Canada Genome Quebec Innovat Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaMontpetit, Alexandre论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal, PQ, Canada Genome Quebec Innovat Ctr, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaPastinen, Tomi论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, CanadaSinnett, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Fac Med, Dept Pediat, Montreal, PQ H3C 3J7, Canada Univ Montreal, St Justine UHC Res Ctr, Montreal, PQ, Canada
- [30] Whole-Exome Sequencing in Multiplex Families Identifies Novel Rare Variants in Multiple SclerosisNEUROLOGY, 2013, 80Haines, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Nashville, TN 37235 USA Vanderbilt Univ, Nashville, TN 37235 USABeecham, Ashley论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAMcCauley, Jacob论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAHadjixenofontos, Athena论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAWhitehead, Patrice论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAKonidari, Ioanna论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAAviram, Anat论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAPasco, Yuslin论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAHauser, Stephen论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Vanderbilt Univ, Nashville, TN 37235 USAOksenberg, Jorge论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Vanderbilt Univ, Nashville, TN 37235 USAHedges, Dale论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAVance, Jeffery论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USAPericak-Vance, Margaret论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miami, FL USA Vanderbilt Univ, Nashville, TN 37235 USA