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- [1] Whole-exome sequencing in patients with inherited neuropathies: outcome and challengesJournal of Neurology, 2014, 261 : 970 - 982Maria Schabhüttl论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsThomas Wieland论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsJan Senderek论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsJonathan Baets论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsVincent Timmerman论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsPeter De Jonghe论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsMary M. Reilly论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsKarl Stieglbauer论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsEva Laich论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsReinhard Windhager论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsWolfgang Erwa论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsSlave Trajanoski论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsTim M. Strom论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of OrthopaedicsMichaela Auer-Grumbach论文数: 0 引用数: 0 h-index: 0机构: Medical University Vienna,Department of Orthopaedics
- [2] Whole-exome sequencing in patients with inherited neuropathies: outcome and challengesJOURNAL OF NEUROLOGY, 2014, 261 (05) : 970 - 982Schabhuettl, Maria论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaWieland, Thomas论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaSenderek, Jan论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Friedrich Baur Inst, Dept Neurol, D-80336 Munich, Germany Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaBaets, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Hosp Antwerp UZA, Div Neurol, B-2650 Antwerp, Belgium Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria论文数: 引用数: h-index:机构:De Jonghe, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium Univ Hosp Antwerp UZA, Div Neurol, B-2650 Antwerp, Belgium Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaStieglbauer, Karl论文数: 0 引用数: 0 h-index: 0机构: Neurologist Private Practice, A-4020 Linz, Austria Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaLaich, Eva论文数: 0 引用数: 0 h-index: 0机构: Hosp Steyr, Dept Neurol, A-4400 Steyr, Austria Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaWindhager, Reinhard论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaErwa, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Inst Clin Med, A-8036 Graz, Austria Med Univ Graz, Chem Lab Diagnost, A-8036 Graz, Austria Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria论文数: 引用数: h-index:机构:Strom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, AustriaAuer-Grumbach, Michaela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria Med Univ Vienna, Dept Orthopaed, A-1090 Vienna, Austria
- [3] Whole-exome sequencing in 168 Korean patients with inherited retinal degenerationBMC MEDICAL GENOMICS, 2021, 14 (01)论文数: 引用数: h-index:机构:Lee, Hyun-Seob论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Translat Res Inst, Biomed Res Inst, Genom Core Facil, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaKim, Kwangsoo论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Transdisciplinary Dept Med & Adv Technol, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaChoi, Seongmin论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaJang, Insoon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaCho, Seo-Ho论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaYoon, Chang Ki论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South Korea Seoul Natl Univ, Dept Ophthalmol, Coll Med, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaLee, Eun Kyoung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South Korea Seoul Natl Univ, Dept Ophthalmol, Coll Med, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaYu, Hyeong Gon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South Korea Seoul Natl Univ, Dept Ophthalmol, Coll Med, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South Korea
- [4] Whole-exome sequencing in 168 Korean patients with inherited retinal degenerationBMC Medical Genomics, 14Dae Joong Ma论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteHyun-Seob Lee论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteKwangsoo Kim论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteSeongmin Choi论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteInsoon Jang论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteSeo-Ho Cho论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteChang Ki Yoon论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteEun Kyoung Lee论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteHyeong Gon Yu论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research Institute
- [5] WHOLE EXOME SEQUENCING IN INHERITED NEUROPATHIES FROM SOUTH INDIAJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 : S40 - S41Perrain, Valentine论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Ctr Neuromuscular Dis, London, England UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandRecord, Christopher论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Ctr Neuromuscular Dis, London, England UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandWilson, Lindsay论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Ctr Neuromuscular Dis, London, England UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandMacken, William论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Ctr Neuromuscular Dis, London, England UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandVandrovcova, Jana论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Ctr Neuromuscular Dis, London, England UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandTallapaka, Karthik论文数: 0 引用数: 0 h-index: 0机构: CCMB, Hyderabad, India UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandDalal, Ashwin论文数: 0 引用数: 0 h-index: 0机构: CCMB, Hyderabad, India UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandGovindaraj, P.论文数: 0 引用数: 0 h-index: 0机构: CCMB, Hyderabad, India UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandJabeen, Shaik论文数: 0 引用数: 0 h-index: 0机构: NIMS, Hyderabad, India UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandYareeda, Sireesha论文数: 0 引用数: 0 h-index: 0机构: NIMS, Hyderabad, India UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandMahesh, Bandari论文数: 0 引用数: 0 h-index: 0机构: NIMS, Hyderabad, India UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandNaveena, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandThangaraj, K.论文数: 0 引用数: 0 h-index: 0机构: CCMB, Hyderabad, India UCL, Queen Sq Ctr Neuromuscular Dis, London, EnglandReilly, Mary论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Ctr Neuromuscular Dis, London, England UCL, Queen Sq Ctr Neuromuscular Dis, London, England
- [6] Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean PatientsCURRENT ISSUES IN MOLECULAR BIOLOGY, 2024, 46 (10) : 11021 - 11030Park, Youngchan论文数: 0 引用数: 0 h-index: 0机构: Hanyang Univ, Dept Biomed Informat, Seoul 04763, South Korea Korea Natl Inst Hlth, KCDC, Dept Precis Med, Div Bio Bigdata, Cheongju 28159, South Korea Hanyang Univ, Dept Biomed Informat, Seoul 04763, South KoreaKim, Youngjin论文数: 0 引用数: 0 h-index: 0机构: Elite Eye Hosp, Seoul 03779, South Korea Hanyang Univ, Dept Biomed Informat, Seoul 04763, South KoreaKoh, Insong论文数: 0 引用数: 0 h-index: 0机构: Hanyang Univ, Dept Biomed Informat, Seoul 04763, South Korea Hanyang Univ, Dept Biomed Informat, Seoul 04763, South KoreaLee, Jong-Young论文数: 0 引用数: 0 h-index: 0机构: OneOmics Co Ltd, Gimpo Si 14585, South Korea Hanyang Univ, Dept Biomed Informat, Seoul 04763, South Korea
- [7] Whole-exome sequencing in HHT patientsANGIOGENESIS, 2018, 21 (01) : 149 - 149Giraud, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, France Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, FranceLesca, G.论文数: 0 引用数: 0 h-index: 0机构: Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, France CNRS UMR5292, INSERM U1028, Ctr Neurosci, Lyon, France Univ Lyon 1, Univ Lyon, Fac Med, Villeurbanne, France Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, FranceAuboiroux, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, France Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, FranceCalender, A.论文数: 0 引用数: 0 h-index: 0机构: Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, France Univ Lyon 1, Univ Lyon, Fac Med, Villeurbanne, France Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, FranceBailly, S.论文数: 0 引用数: 0 h-index: 0机构: INSERM, Unite 1036, Biol Canc & Infect, Grenoble, France Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, FranceDupuis-Girod, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Lyon 1, Univ Lyon, Fac Med, Villeurbanne, France Hosp Civils Lyon, Serv Genet, Bron, France Hosp Civils Lyon, Ctr Reference Malad Rendu Osler, Bron, France Hop Edouard Herriot, Hosp Civils Lyon, Serv Genet Mol & Clin, Lyon, France
- [8] Whole-exome sequencing is effective for clarification of unsolved causes of hereditary neuropathies in Czech patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 330 - 330论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Neupauerova, J.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech RepublicBrozkova, D. Safka论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech RepublicStanek, D.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech RepublicHaberlova, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech RepublicMazanec, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Dept Neurol, Fac Med 2, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech RepublicSeeman, P.论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech Republic Univ Hosp Motol, Prague, Czech Republic Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, DNA Lab, Prague, Czech Republic
- [9] Using Whole-Exome Sequencing to Identify Inherited Causes of AutismNEURON, 2013, 77 (02) : 259 - 273Yu, Timothy W.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Autism Consortium, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA Harvard Univ, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAChahrour, Maria H.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Autism Consortium, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA Harvard Univ, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USACoulter, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAJiralerspong, Sarn论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Res Inst, Dept Human Genet & Pediat, Montreal, PQ H3H 1P3, Canada Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAOkamura-Ikeda, Kazuko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokushima, Inst Enzyme Res, Tokushima 7708501, Japan Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAAtaman, Bulent论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USASchmitz-Abe, Klaus论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAHarmin, David A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAAdli, Mazhar论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Sch Med, Dept Biochem & Mol Genet, Charlottesville, VA 22908 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAMalik, Athar N.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAD'Gama, Alissa M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USALim, Elaine T.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Analyt & Translat Genet Unit, Boston, MA 02114 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USASanders, Stephan J.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Genet, Ctr Human Genet & Genom, New Haven, CT 06510 USA Yale Univ, Sch Med, Program Neurogenet, New Haven, CT 06510 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAMochida, Ganesh H.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAPartlow, Jennifer N.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USASunu, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAFelie, Jillian M.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USARodriguez, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USANasir, Ramzi H.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAWare, Janice论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAJoseph, Robert M.论文数: 0 引用数: 0 h-index: 0机构: Autism Consortium, Boston, MA 02115 USA Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAHill, R. Sean论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAKwan, Benjamin Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, Schulich Sch Med & Dent, London, ON N6A 5C1, Canada Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAAl-Saffar, Muna论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAMukaddes, Nahit M.论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Dept Child Psychiat, Istanbul Fac Med, TR-34452 Istanbul, Turkey Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAHashmi, Asif论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp, King Abdulaziz Naval Base, Jubail Ind City 31951, Saudi Arabia Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USABalkhy, Soher论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Neurosci & Pediat, Jeddah 21499, Saudi Arabia Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAGascon, Generoso G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Istanbul Univ, Dept Child Psychiat, Istanbul Fac Med, TR-34452 Istanbul, Turkey Brown Univ, Sch Med, Providence, RI 02912 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAHisama, Fuki M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USALeClair, Elaine论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAPoduri, Annapurna论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAOner, Ozgur论文数: 0 引用数: 0 h-index: 0机构: Dr Sami Ulus Childrens Hosp, Dept Child & Adolescent Psychiat, TR-06090 Ankara, Turkey Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAAl-Saad, Samira论文数: 0 引用数: 0 h-index: 0机构: Kuwait Ctr Autism, Kuwait 73455, Kuwait Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAAl-Awadi, Sadika A.论文数: 0 引用数: 0 h-index: 0机构: Kuwait Med Genet Ctr, Kuwait 72458, Kuwait Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USABastaki, Laila论文数: 0 引用数: 0 h-index: 0机构: Kuwait Med Genet Ctr, Kuwait 72458, Kuwait Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USABen-Omran, Tawfeg论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar Weill Cornell Med Coll, Dept Pediat, New York, NY 10065 USA Weill Cornell Med Coll, Dept Med Genet, New York, NY 10065 USA Weill Cornell Med Coll, Dept Pediat, Doha, Qatar Weill Cornell Med Coll, Dept Med Genet, Doha, Qatar Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USATeebi, Ahmad S.论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar Weill Cornell Med Coll, Dept Pediat, New York, NY 10065 USA Weill Cornell Med Coll, Dept Med Genet, New York, NY 10065 USA Weill Cornell Med Coll, Dept Pediat, Doha, Qatar Weill Cornell Med Coll, Dept Med Genet, Doha, Qatar Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAAl-Gazali, Lihadh论文数: 0 引用数: 0 h-index: 0机构: United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAEapen, Valsamma论文数: 0 引用数: 0 h-index: 0机构: Univ New S Wales, Acad Unit Child Psychiat SW Sydney AUCS, Sydney, NSW 2170, Australia Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAStevens, Christine R.论文数: 0 引用数: 0 h-index: 0机构: MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA Harvard Univ, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USARappaport, Leonard论文数: 0 引用数: 0 h-index: 0机构: Autism Consortium, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAGabriel, Stacey B.论文数: 0 引用数: 0 h-index: 0机构: MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA Harvard Univ, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAMarkianos, Kyriacos论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAState, Matthew W.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Genet, Ctr Human Genet & Genom, New Haven, CT 06510 USA Yale Univ, Sch Med, Program Neurogenet, New Haven, CT 06510 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAGreenberg, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USATaniguchi, Hisaaki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokushima, Inst Enzyme Res, Tokushima 7708501, Japan Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USABraverman, Nancy E.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Res Inst, Dept Human Genet & Pediat, Montreal, PQ H3H 1P3, Canada Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAMorrow, Eric M.论文数: 0 引用数: 0 h-index: 0机构: Autism Consortium, Boston, MA 02115 USA Brown Univ, Dept Mol Biol Cell Biol & Biochem, Providence, RI 02912 USA Brown Univ, Dept Psychiat & Human Behav, Providence, RI 02912 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USAWalsh, Christopher A.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA Autism Consortium, Boston, MA 02115 USA Harvard Univ, Sch Med, Boston, MA 02115 USA MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA Harvard Univ, Cambridge, MA 02142 USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
- [10] Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 familiesCLINICAL GENETICS, 2018, 93 (02) : 301 - 309Hartley, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaWagner, J. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaWarman-Chardon, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Dept Genet, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaTetreault, M.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBrady, L.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, Med Ctr, Hamilton, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBaker, S.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Dept Med, Hamilton, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaTarnopolsky, M.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, Med Ctr, Hamilton, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBourque, P. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Med, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaParboosingh, J. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaSmith, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaMcInnes, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaInnes, A. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBernier, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaCurry, C. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaYoon, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Div Neurol, Toronto, ON, Canada Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaHorvath, G. A.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, BC Childrens Hosp, Dept Pediat, Div Biochem Dis, Vancouver, BC, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBareke, E.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaGillespie, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaMajewski, J.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBulman, D. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaDyment, D. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Dept Genet, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, CanadaBoycott, K. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Childrens Hosp Eastern Ontario, Dept Genet, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada