Alan H. Beggs, PhD 个人学术档案

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引用	38235	13421
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Nigel LAINGNeurogenetics, University of Western Australia, Harry Perkins Institute of Medical Research在 uwa.edu.au 的电子邮件经过验证
Despina Sanoudou4th Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens在 med.uoa.gr 的电子邮件经过验证
Isaac KohaneHarvard Medical School, Children's Hospital, Brigham and Women's Hospital在 hms.harvard.edu 的电子邮件经过验证
Martin K. Childers, D.O., Ph.D.Professor, Rehabilitation Medicine, University of Washington在 uw.edu 的电子邮件经过验证
Vandana A GuptaBrigham and Women's Hospital在 research.bwh.harvard.edu 的电子邮件经过验证
Alvin KhoBoston Children's Hospital在 hms.harvard.edu 的电子邮件经过验证
laporte jocelynIGBMC (Inserm, Cnrs, Strasbourg University)在 igbmc.fr 的电子邮件经过验证
Eric P HoffmanProfessor, Department of Pharmaceutical Sciences, Binghamton University在 binghamton.edu 的电子邮件经过验证
Daniel G MacArthurGarvan Institute of Medical Research, Murdoch Children's Research Institute在 atgu.mgh.harvard.edu 的电子邮件经过验证
Mariz VainzofCentro de Estudos do Genoma Humano e Células Tronco, IBUSP在 usp.br 的电子邮件经过验证
Simon EastealAustralian National University在 anu.edu.au 的电子邮件经过验证
Pierre-Emmanuel GleizesCenter for Integrative Biology, University of Toulouse, CNRS在 univ-tlse3.fr 的电子邮件经过验证
Ichizo NISHINODirector, Department of Neuromuscular Research, National Institute of Neuroscience, NCNP在 ncnp.go.jp 的电子邮件经过验证
Mee Rie SheenHarvard Medical School在 mgh.harvard.edu 的电子邮件经过验证
jean louis mandelprof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHU在 igbmc.fr 的电子邮件经过验证
Mugdha JoshiResearch Fellow在 iupui.edu 的电子邮件经过验证
Prof. Joerg J MeerpohlInstitute for Evidence in Medicine (for Cochrane Germany Foundation), University of Freiburg在 cochrane.de 的电子邮件经过验证
Priya DuggalProfessor, Department of Epidemiology, Johns Hopkins University在 jhsph.edu 的电子邮件经过验证
Mark R. VeselyAssistant Professor of Medicine, University of Maryland School of Medicine在 medicine.umaryland.edu 的电子邮件经过验证
Vijay G. SankaranProfessor of Pediatrics, Boston Children's Hospital & Harvard Medical School在 broadinstitute.org 的电子邮件经过验证

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Alan H. Beggs, PhD

Professor of Pediatrics, Harvard Medical School, Director The Manton Center

在 enders.tch.harvard.edu 的电子邮件经过验证 - 首页

Molecular Genetics Human Genetics Neuromuscular Disease Myopathy Muscular Dystrophy


标题按引用次数排序按年份排序按标题排序	引用次数引用次数	年份
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias PJ Schwartz, SG Priori, C Spazzolini, AJ Moss, GM Vincent, C Napolitano, ... Circulation 103 (1), 89-95, 2001	2258	2001
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis JM Kaplan, S H Kim, KN North, H Rennke, L A Correia, HQ Tong, ... Nature genetics 24 (3), 251-256, 2000	1604	2000
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion M Koenig, AH Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, ... American journal of human genetics 45 (4), 498, 1989	1285	1989
ACTN3 genotype is associated with human elite athletic performance N Yang, DG MacArthur, JP Gulbin, AG Hahn, AH Beggs, S Easteal, ... The American Journal of human genetics 73 (3), 627-631, 2003	1271	2003
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction AH Beggs, M Koenig, FM Boyce, LM Kunkel Human genetics 86, 45-48, 1990	994	1990
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations I Splawski, KW Timothy, N Decher, P Kumar, FB Sachse, AH Beggs, ... Proceedings of the National Academy of Sciences 102 (23), 8089-8096, 2005	753	2005
Competitive binding of α-actinin and calmodulin to the NMDA receptor M Wyszynski, J Lin, A Rao, E Nigh, AH Beggs, AM Craig, M Sheng Nature 385 (6615), 439-442, 1997	735	1997
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ... Science translational medicine 9 (386), eaal5209, 2017	666	2017
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia I Splawski, KW Timothy, M Tateyama, CE Clancy, A Malhotra, AH Beggs, ... Science 297 (5585), 1333-1336, 2002	644	2002
Distinctive patterns of microRNA expression in primary muscular disorders I Eisenberg, A Eran, I Nishino, M Moggio, C Lamperti, AA Amato, ... Proceedings of the National Academy of Sciences 104 (43), 17016-17021, 2007	604	2007
A common nonsense mutation results in α-actinin-3 deficiency in the general population KN North, N Yang, D Wattanasirichaigoon, M Mills, S Easteal, AH Beggs Nature genetics 21 (4), 353-354, 1999	589	1999
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome DS Paterson, FL Trachtenberg, EG Thompson, RA Belliveau, AH Beggs, ... Jama 296 (17), 2124-2132, 2006	577	2006
Differential expression of the actin-binding proteins, α-actinin-2 and-3, in different species: implications for the evolution of functional redundancy M Mills, N Yang, R Weinberger, DL Vander Woude, AH Beggs, S Easteal, ... Human molecular genetics 10 (13), 1335-1346, 2001	572	2001
Patient-customized oligonucleotide therapy for a rare genetic disease J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ... New England Journal of Medicine 381 (17), 1644-1652, 2019	531	2019
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. AH Beggs, EP Hoffman, JR Snyder, K Arahata, L Specht, F Shapiro, ... American journal of human genetics 49 (1), 54, 1991	527	1991
Mutations in dynamin 2 cause dominant centronuclear myopathy M Bitoun, S Maugenre, PY Jeannet, E Lacene, X Ferrer, P Laforêt, ... Nature genetics 37 (11), 1207-1209, 2005	489	2005
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients HT Gazda, MR Sheen, A Vlachos, V Choesmel, MF O'Donohue, ... The American Journal of Human Genetics 83 (6), 769-780, 2008	467	2008
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy KJ Nowak, D Wattanasirichaigoon, HH Goebel, M Wilce, K Pelin, ... Nature genetics 23 (2), 208-212, 1999	463	1999
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. AH Beggs, TJ Byers, JH Knoll, FM Boyce, GA Bruns, LM Kunkel Journal of Biological Chemistry 267 (13), 9281-9288, 1992	419	1992
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia VG Sankaran, R Ghazvinian, R Do, P Thiru, JA Vergilio, AH Beggs, ... The Journal of clinical investigation 122 (7), 2439-2443, 2012	393	2012

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