Alan H. Beggs, PhD

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Nigel LAINGNeurogenetics, University of Western Australia, Harry Perkins Institute of Medical ResearchVerified email at uwa.edu.au
Despina Sanoudou4th Department of Internal Medicine, Medical School, National and Kapodistrian University of AthensVerified email at med.uoa.gr
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
Vandana A GuptaBrigham and Women's HospitalVerified email at research.bwh.harvard.edu
laporte jocelynIGBMC (Inserm, Cnrs, Strasbourg University)Verified email at igbmc.fr
Alvin KhoBoston Children's HospitalVerified email at hms.harvard.edu
Eric P HoffmanProfessor, Department of Pharmaceutical Sciences, Binghamton UniversityVerified email at binghamton.edu
Mariz VainzofCentro de Estudos do Genoma Humano e Células Tronco, IBUSPVerified email at usp.br
Daniel G MacArthurGarvan Institute of Medical Research, Murdoch Children's Research InstituteVerified email at atgu.mgh.harvard.edu
Simon EastealAustralian National UniversityVerified email at anu.edu.au
Pierre-Emmanuel GleizesCenter for Integrative Biology, University of Toulouse, CNRSVerified email at univ-tlse3.fr
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
Mugdha JoshiResearch FellowVerified email at iupui.edu
Prof. Joerg J MeerpohlInstitute for Evidence in Medicine (for Cochrane Germany Foundation), University of FreiburgVerified email at cochrane.de
Priya DuggalProfessor, 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
M. Chiara ManziniRutgers-Robert Wood Johnson Medical SchoolVerified email at rutgers.edu

Alan H. Beggs, PhD

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

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

Molecular Genetics Human Genetics Neuromuscular Disease Myopathy Muscular Dystrophy


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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	2295	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	1626	2000
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	1290	2003
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	1277	1989
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	1000	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	770	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	740	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	699	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	648	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	614	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	600	1999
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	592	2019
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	579	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	577	2001
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	535	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	501	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	472	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	468	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	432	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	399	2002

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