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- [1] EXOME SEQUENCING AS A DIAGNOSTIC TOOL IN DIVERSE NEUROPATHIES[J]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2013, 18 : 56 - 57Klein, C. J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA Mayo Clin, Dept Med Genet, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USAMiddha, S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Bioinformat, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USADuan, X.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA Mayo Clin, China Japan Friendship Hosp, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USAWu, Y.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USALitchy, W. J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USAGu, W.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, China Japan Friendship Hosp, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USADyck, P. J. B.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USAGavrilova, R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Med Genet, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USASmith, D., I论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USAKocher, J-P论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Bioinformat, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USADyck, P. J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Rochester, MN USA Mayo Clin, Dept Neurol, Rochester, MN USA
- [2] Genetic ancestry and diagnostic yield of exome sequencing in a diverse population[J]. npj Genomic Medicine, 9Yusuph Mavura论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsNuriye Sahin-Hodoglugil论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsUgur Hodoglugil论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsMark Kvale论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsPierre-Marie Martin论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsJessica Van Ziffle论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsW. Patrick Devine论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsSara L. Ackerman论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsBarbara A. Koenig论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsPui-Yan Kwok论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsMary E. Norton论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsAnne Slavotinek论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human GeneticsNeil Risch论文数: 0 引用数: 0 h-index: 0机构: University of California San Francisco,Institute for Human Genetics
- [3] Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population[J]. NPJ GENOMIC MEDICINE, 2023, 8 (01)Slavotinek, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USARego, Shannon论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USASahin-Hodoglugil, Nuriye论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAKvale, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Epidemiol Biostati, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USALianoglou, Billie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Surg, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAYip, Tiffany论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAHoban, Hannah论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAOutram, Simon论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Hlth Aging, Sch Nursing, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAAnguiano, Beatrice论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Inst Hlth Aging, Sch Nursing, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAChen, Flavia论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAMichelson, Jeremy论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Human Nutr, Med Ctr, Columbia, MO USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USACilio, Roberta M.论文数: 0 引用数: 0 h-index: 0机构: Univ Louvain, Div Pediat Neurol, Dept Pediat, Brussels, Belgium Univ Calif San Francisco, Dept Pediat, San Francisco, CA USACurry, Cynthia论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Genet Med, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAGallagher, Renata C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAGardner, Marisa论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp Oakland, Dept Neurol, Oakland, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAKuperman, Rachel论文数: 0 引用数: 0 h-index: 0机构: UCSF Benioff Childrens Hosp Oakland, Dept Neurol, Oakland, CA USA Eysz Inc, Piedmont, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAMendelsohn, Bryce论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Oakland Med Ctr, Div Genet, Oakland, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USASherr, Elliott论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Div Child Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAShieh, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAStrober, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, Div Child Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USATam, Allison论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USATenney, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAWeiss, William论文数: 0 引用数: 0 h-index: 0机构: Zuckerberg San Francisco Gen Hosp, Div Child Neurol, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAWhittle, Amy论文数: 0 引用数: 0 h-index: 0机构: Zuckerberg San Francisco Gen Hosp, Div Pediat, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAChin, Garrett论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAFaubel, Amanda论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Surg, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAPrasad, Hannah论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAMavura, Yusuph论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Epidemiol Biostati, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAVan Ziffle, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USADevine, W. Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAHodoglugil, Ugur论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Gen Med Lab, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAMartin, Pierre-Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USASparks, Teresa N.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Dept Obstet Gynecol & Reprod Sci, Div Maternal Fetal Med, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAKoenig, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Program Bioeth, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAAckerman, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Hlth Aging, Sch Nursing, San Francisco, CA USA Univ Calif San Francisco, Sch Nursing, Dept Social & Behav Sci, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USARisch, Neil论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Univ Calif San Francisco, Dept Epidemiol Biostati, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USAKwok, Pui-Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USANorton, Mary E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA Dept Obstet Gynecol & Reprod Sci, Div Maternal Fetal Med, San Francisco, CA USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA
- [4] Genetic ancestry and diagnostic yield of exome sequencing in a diverse population[J]. NPJ GENOMIC MEDICINE, 2024, 9 (01)Mavura, Yusuph论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94118 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USASahin-Hodoglugil, Nuriye论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USAHodoglugil, Ugur论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USAKvale, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USAMartin, Pierre-Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USAVan Ziffle, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USADevine, W. Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Dept Pathol, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USAAckerman, Sara L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Hlth & Aging, Sch Nursing, San Francisco, CA USA Univ Calif San Francisco, Sch Nursing, Dept Social & Behav Sci, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USAKoenig, Barbara A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Program Bioeth, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USAKwok, Pui-Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Cardiovasc Res Inst, Dept Dermatol, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USANorton, Mary E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Dept Obstet Gynecol & Reprod Sci, Div Maternal Fetal Med, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USASlavotinek, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USARisch, Neil论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94118 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94118 USA
- [5] Exome sequencing: Dual role as a discovery and diagnostic tool[J]. ANNALS OF NEUROLOGY, 2012, 71 (01) : 5 - 14Ku, Chee-Seng论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Singapore, Canc Sci Inst Singapore, Ctr Life Sci CeLS, Singapore 117456, Singapore Natl Univ Singapore, Canc Sci Inst Singapore, Ctr Life Sci CeLS, Singapore 117456, SingaporeCooper, David N.论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Sch Med, Inst Med Genet, Cardiff, S Glam, Wales Natl Univ Singapore, Canc Sci Inst Singapore, Ctr Life Sci CeLS, Singapore 117456, SingaporePolychronakos, Constantin论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Dept Pediat Human Genet, Montreal, PQ, Canada Natl Univ Singapore, Canc Sci Inst Singapore, Ctr Life Sci CeLS, Singapore 117456, SingaporeNaidoo, Nasheen论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Epidemiol & Publ Hlth, Ctr Mol Epidemiol, Singapore 117456, Singapore Natl Univ Singapore, Canc Sci Inst Singapore, Ctr Life Sci CeLS, Singapore 117456, SingaporeWu, Mengchu论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Singapore, Canc Sci Inst Singapore, Ctr Life Sci CeLS, Singapore 117456, SingaporeSoong, Richie论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Singapore, Canc Sci Inst Singapore, Ctr Life Sci CeLS, Singapore 117456, Singapore
- [6] Exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia (FH)[J]. JOURNAL OF MEDICAL GENETICS, 2012, 49 : S114 - S114Futema, Marta论文数: 0 引用数: 0 h-index: 0机构: UCL, Cardiovasc Genet BFH Labs, London, England UCL, Cardiovasc Genet BFH Labs, London, EnglandPlagnol, V.论文数: 0 引用数: 0 h-index: 0机构: UCL Genet Inst, London, England UCL, Cardiovasc Genet BFH Labs, London, EnglandWhittall, R. A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Cardiovasc Genet BFH Labs, London, England UCL, Cardiovasc Genet BFH Labs, London, EnglandNeil, H. A. W.论文数: 0 引用数: 0 h-index: 0机构: Oxford Ctr Diabet Endocrinol & Metab, Oxford, England UCL, Cardiovasc Genet BFH Labs, London, EnglandHurles, M. E.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England UCL, Cardiovasc Genet BFH Labs, London, EnglandHumphries, S. E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Cardiovasc Genet BFH Labs, London, England UCL, Cardiovasc Genet BFH Labs, London, England
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