Alan H. Beggs - Google Scholar Citations

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Citations	25043	9854
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Despina Sanoudou4th Department of Internal Medicine, Medical School, National and Kapodistrian University of AthensVerified email at med.uoa.gr
Nigel LAINGProfessor of Neurogenetics, University of Western AustraliaVerified email at uwa.edu.au
Isaac KohaneHarvard Medical School, Children's Hospital, Brigham and Women's HospitalVerified email at hms.harvard.edu
Martin K. Childers, D.O., Ph.D.Professor, Rehabilitation Medicine, University of WashingtonVerified email at uw.edu
Alvin KhoBoston Children's HospitalVerified email at hms.harvard.edu
Vandana A GuptaBrigham and Women's HospitalVerified email at research.bwh.harvard.edu
laporte jocelynINSERM - IGBMCVerified email at igbmc.fr
Eric P HoffmanProfessor, Department of Pharmaceutical Sciences, Binghamton UniversityVerified email at binghamton.edu
Pierre-Emmanuel GleizesDirector, LBME - Center for Integrative Biology, University of Toulouse / CNRSVerified email at univ-tlse3.fr
Mariz VainzofCentro de Estudos do Genoma Humano e Células Tronco, IBUSPVerified email at usp.br
Simon EastealAustralian National UniversityVerified email at anu.edu.au
Ichizo NISHINODirector, Department of Neuromuscular Research, National Institute of Neuroscience, NCNPVerified email at ncnp.go.jp
Mee Rie SheenHarvard Medical SchoolVerified email at mgh.harvard.edu
jean louis mandelprof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHUVerified email at igbmc.fr
Daniel G MacArthurAnalytic and Translational Genetics Unit, Massachusetts General HospitalVerified email at atgu.mgh.harvard.edu
Priya DuggalAssociate Professor, Department of Epidemiology, Johns Hopkins UniversityVerified email at jhsph.edu
Mark R. VeselyAssistant Professor of Medicine, University of Maryland School of MedicineVerified email at medicine.umaryland.edu
Joerg J MeerpohlInstitute for Evidence in Medicine (for Cochrane Germany Foundation), University of FreiburgVerified email at cochrane.de
M. Chiara ManziniRutgers-Robert Wood Johnson Medical SchoolVerified email at rutgers.edu
Maria Rita Passos-BuenoDepartamento de Genetica e Biologia Evolutiva, Instituto de Biociências, Universidade de São PauloVerified email at ib.usp.br

Alan H. Beggs

Professor of Pediatrics, Harvard Medical School

Verified email at enders.tch.harvard.edu - Homepage

Molecular Genetics Human Genetics Neuromuscular Disease Myopathy Muscular Dystrophy


Title	Cited by	Year
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	1805	2001
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis JM Kaplan, SH Kim, KN North, H Rennke, LA Correia, HQ Tong, ... Nature genetics 24 (3), 251, 2000	1376	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	1047	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	888	2003
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction AH Beggs, M Koenig, FM Boyce, LM Kunkel Human genetics 86 (1), 45-48, 1990	883	1990
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, 1997	639	1997
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	567	2002
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	562	2005
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	476	2006
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	453	2007
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	438	1991
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, 1999	409	1999
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	399	2001
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, 1999	376	1999
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, 2005	358	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	341	2008
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	324	1992
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle JN Haslett, D Sanoudou, AT Kho, RR Bennett, SA Greenberg, IS Kohane, ... Proceedings of the National Academy of Sciences 99 (23), 15000-15005, 2002	300	2002
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy K Pelin, P Hilpelä, K Donner, C Sewry, PA Akkari, SD Wilton, ... Proceedings of the National Academy of Sciences 96 (5), 2305-2310, 1999	289	1999
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia HT Gazda, A Grabowska, LB Merida-Long, E Latawiec, HE Schneider, ... The American Journal of Human Genetics 79 (6), 1110-1118, 2006	287	2006

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