PubRank

Alan H Beggs

Author PubWeight™ 128.56‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. JAMA 2006 5.10
2 Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002 4.40
3 Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A 2005 4.14
4 Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A 2007 3.72
5 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 2008 3.29
6 Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 2006 3.17
7 ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003 3.12
8 Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 2008 3.05
9 Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A 2002 2.60
10 Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005 2.33
11 Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J 2003 2.30
12 Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics 2003 2.20
13 Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest 2012 2.15
14 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013 2.09
15 The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat 2010 2.03
16 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol 2014 1.95
17 T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A 2009 1.83
18 RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol 2004 1.76
19 Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2006 1.73
20 Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet 2009 1.73
21 Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis Rheum 2007 1.72
22 The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord 2009 1.70
23 Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat 2012 1.64
24 X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol 2005 1.61
25 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012 1.60
26 Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 2009 1.54
27 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord 2004 1.52
28 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 2013 1.46
29 Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells 2006 1.46
30 AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet 2008 1.44
31 Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet 2013 1.39
32 Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med 2014 1.32
33 The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet 2011 1.30
34 Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proc Natl Acad Sci U S A 2003 1.29
35 Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc Natl Acad Sci U S A 2005 1.28
36 Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 2012 1.25
37 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014 1.24
38 Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 2003 1.23
39 Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest 2010 1.21
40 Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet 2013 1.20
41 Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol 2009 1.20
42 Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics 2003 1.18
43 Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet 2011 1.16
44 Selenoproteins and their impact on human health through diverse physiological pathways. Physiology (Bethesda) 2006 1.13
45 Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol 2004 1.13
46 Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet 2013 1.09
47 Variations in gene expression among different types of human skeletal muscle. Muscle Nerve 2005 1.07
48 Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat 2014 1.06
49 Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet 2012 1.04
50 Muscle function in a canine model of X-linked myotubular myopathy. Muscle Nerve 2012 1.04
51 Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet 2011 1.03
52 Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. Am J Pathol 2011 1.03
53 Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord 2007 1.03
54 Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. J Cell Sci 2006 1.01
55 The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome 2005 1.00
56 Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat 2010 0.99
57 Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skelet Muscle 2011 0.98
58 Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet 2013 0.97
59 Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet 2012 0.97
60 Transcriptional profile of postmortem skeletal muscle. Physiol Genomics 2004 0.96
61 Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol 2012 0.96
62 Selenoprotein N deficiency in mice is associated with abnormal lung development. FASEB J 2013 0.95
63 Skeletal muscle repair in a mouse model of nemaline myopathy. Hum Mol Genet 2006 0.95
64 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 2014 0.95
65 Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML. Blood 2011 0.95
66 Telethonin protein expression in neuromuscular disorders. Biochim Biophys Acta 2002 0.95
67 Adult-onset nemaline myopathy and monoclonal gammopathy. Arch Neurol 2006 0.93
68 Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. J Vis Exp 2013 0.92
69 A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One 2012 0.92
70 Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech 2012 0.92
71 Fast-twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis. Muscle Nerve 2009 0.91
72 Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics 2012 0.91
73 Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. J Neuropathol Exp Neurol 2016 0.91
74 Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. J Med Genet 2013 0.90
75 Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. Brain 2013 0.89
76 Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat 2014 0.88
77 Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet 2012 0.88
78 α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms. FASEB J 2012 0.86
79 Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction. Biochemistry 2010 0.85
80 Multiplex PCR for identifying DMD gene deletions. Curr Protoc Hum Genet 2006 0.82
81 Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy. Muscle Nerve 2014 0.82
82 Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes. BMC Genet 2009 0.81
83 A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop. J Clin Neuromuscul Dis 2017 0.81
84 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2015 0.80
85 Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. J Child Neurol 2003 0.80
86 Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance. J Mol Neurosci 2003 0.79
87 Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. Pediatr Res 2009 0.79
88 Dynamic regulation of endothelial NOS mediated by competitive interaction with alpha-actinin-4 and calmodulin. FASEB J 2008 0.78
89 Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS Genet 2013 0.77
90 Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis 2004 0.77
91 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab 2015 0.76