Alan H. Beggs, PhD

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Nigel LAINGNeurogenetics, University of Western Australia, Harry Perkins Institute of Medical ResearchGeverifieerd e-mailadres voor uwa.edu.au
Despina Sanoudou4th Department of Internal Medicine, Medical School, National and Kapodistrian University of AthensGeverifieerd e-mailadres voor med.uoa.gr
Isaac KohaneHarvard Medical School, Children's Hospital, Brigham and Women's HospitalGeverifieerd e-mailadres voor hms.harvard.edu
Martin K. Childers, D.O., Ph.D.Professor, Rehabilitation Medicine, University of WashingtonGeverifieerd e-mailadres voor uw.edu
Vandana A GuptaBrigham and Women's HospitalGeverifieerd e-mailadres voor research.bwh.harvard.edu
laporte jocelynIGBMC (Inserm, Cnrs, Strasbourg University)Geverifieerd e-mailadres voor igbmc.fr
Alvin KhoBoston Children's HospitalGeverifieerd e-mailadres voor hms.harvard.edu
Eric P HoffmanProfessor, Department of Pharmaceutical Sciences, Binghamton UniversityGeverifieerd e-mailadres voor binghamton.edu
Mariz VainzofCentro de Estudos do Genoma Humano e Células Tronco, IBUSPGeverifieerd e-mailadres voor usp.br
Daniel G MacArthurGarvan Institute of Medical Research, Murdoch Children's Research InstituteGeverifieerd e-mailadres voor atgu.mgh.harvard.edu
Simon EastealAustralian National UniversityGeverifieerd e-mailadres voor anu.edu.au
Pierre-Emmanuel GleizesCenter for Integrative Biology, University of Toulouse, CNRSGeverifieerd e-mailadres voor univ-tlse3.fr
Ichizo NISHINODirector, Department of Neuromuscular Research, National Institute of Neuroscience, NCNPGeverifieerd e-mailadres voor ncnp.go.jp
Mee Rie SheenHarvard Medical SchoolGeverifieerd e-mailadres voor mgh.harvard.edu
jean louis mandelprof. Collège de france (chaire génétique humaine), responsable labo. diagnostic génét. CHUGeverifieerd e-mailadres voor igbmc.fr
Mugdha JoshiResearch FellowGeverifieerd e-mailadres voor iupui.edu
Prof. Joerg J MeerpohlInstitute for Evidence in Medicine (for Cochrane Germany Foundation), University of FreiburgGeverifieerd e-mailadres voor cochrane.de
Priya DuggalProfessor, Department of Epidemiology, Johns Hopkins UniversityGeverifieerd e-mailadres voor jhsph.edu
Mark R. VeselyAssistant Professor of Medicine, University of Maryland School of MedicineGeverifieerd e-mailadres voor medicine.umaryland.edu
M. Chiara ManziniRutgers-Robert Wood Johnson Medical SchoolGeverifieerd e-mailadres voor rutgers.edu

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Alan H. Beggs, PhD

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

Geverifieerd e-mailadres voor enders.tch.harvard.edu - Homepage

Molecular Genetics Human Genetics Neuromuscular Disease Myopathy Muscular Dystrophy


Titel Sorteren op citaties Sorteren op jaar Sorteren op titel	Geciteerd door Geciteerd door	Jaar
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	2296	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	1292	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	1278	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	1002	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	771	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	741	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	703	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	595	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	469	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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