PubRank

Richard A Lewis

Author PubWeight™ 93.33‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007 4.93
2 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010 3.99
3 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009 3.36
4 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011 3.06
5 Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science 2010 2.89
6 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012 2.54
7 Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet 2003 2.15
8 Motor unit number estimation: a technology and literature review. Muscle Nerve 2014 2.13
9 Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006 1.96
10 Phenotypic clustering in MPZ mutations. Brain 2004 1.94
11 Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006 1.85
12 Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 2003 1.83
13 Lessons in molecular recognition: the effects of ligand and protein flexibility on molecular docking accuracy. J Med Chem 2004 1.79
14 Asymmetric flaccid paralysis: a neuromuscular presentation of West Nile virus infection. Ann Neurol 2003 1.72
15 Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain 2009 1.70
16 Three-dimensional pharmacophore methods in drug discovery. J Med Chem 2010 1.58
17 Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 2002 1.57
18 Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci 2012 1.47
19 Autoantibodies to lipoprotein-related protein 4 in patients with double-seronegative myasthenia gravis. Arch Neurol 2011 1.47
20 Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 2004 1.32
21 Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol 2002 1.29
22 Efficacy and safety of a fixed combination of travoprost 0.004%/timolol 0.5% ophthalmic solution once daily for open-angle glaucoma or ocular hypertension. Am J Ophthalmol 2005 1.28
23 Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet 2005 1.26
24 Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy. Hum Gene Ther 2002 1.22
25 Difference in neuropathogenetic mechanisms in human furious and paralytic rabies. J Neurol Sci 2005 1.19
26 Metal templated design of protein interfaces. Proc Natl Acad Sci U S A 2009 1.19
27 Metal-mediated self-assembly of protein superstructures: influence of secondary interactions on protein oligomerization and aggregation. J Am Chem Soc 2008 1.18
28 Pathophysiology of human paralytic rabies. J Neurovirol 2005 1.15
29 Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat 2011 1.13
30 An update on monoclonal gammopathy and neuropathy. Curr Neurol Neurosci Rep 2012 1.06
31 Ophthalmologic findings in Aicardi syndrome. J AAPOS 2012 1.05
32 Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis 2006 1.01
33 Control of protein oligomerization symmetry by metal coordination: C2 and C3 symmetrical assemblies through Cu(II) and Ni(II) coordination. Inorg Chem 2009 1.00
34 Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A 2005 0.99
35 An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat 2003 0.99
36 Real-life comparison of beclometasone dipropionate as an extrafine- or larger-particle formulation for asthma. Respir Med 2013 0.98
37 Comparison of conformational analysis techniques to generate pharmacophore hypotheses using catalyst. J Chem Inf Model 2005 0.97
38 Disorders of pulmonary function, sleep, and the upper airway in Charcot-Marie-Tooth disease. Lung 2007 0.96
39 Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. Hum Mutat 2010 0.94
40 Exploiting QSAR models in lead optimization. Curr Opin Drug Discov Devel 2008 0.93
41 Diabetes mellitus exacerbates motor and sensory impairment in CMT1A. J Peripher Nerv Syst 2008 0.92
42 A complete family of terminal uranium chalcogenides, [U(E)(N{SiMe3}2)3]- (E = O, S, Se, Te). J Am Chem Soc 2012 0.91
43 The actinobacterial transcription factor RbpA binds to the principal sigma subunit of RNA polymerase. Nucleic Acids Res 2013 0.91
44 Anterior horn cell loss from subdural hygroma: a consequence of spontaneous spinal fluid leak. J Neurol Sci 2011 0.89
45 Distal symmetrical polyneuropathy: a definition for clinical research. A report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. Arch Phys Med Rehabil 2005 0.88
46 Monoclonal gammopathy and neuropathy. Curr Opin Neurol 2009 0.88
47 Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol 2007 0.87
48 Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 2009 0.87
49 Consensus criteria for the diagnosis of multifocal motor neuropathy. Muscle Nerve 2003 0.87
50 Chronic inflammatory demyelinating polyneuropathy disease activity status: recommendations for clinical research standards and use in clinical practice. J Peripher Nerv Syst 2010 0.86
51 Phacoemulsification and intraocular lens implantation before, during, or after canaloplasty in eyes with open-angle glaucoma: 3-year results. J Glaucoma 2015 0.86
52 Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet 2009 0.86
53 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. Am J Med Genet A 2013 0.86
54 Effect of host genetics on incidence of HIV neuroretinal disorder in patients with AIDS. J Acquir Immune Defic Syndr 2010 0.86
55 Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A 2009 0.85
56 Phenotypic presentation of the Ser63Del MPZ mutation. J Peripher Nerv Syst 2012 0.84
57 Picture archiving and communication systems: a multicentre survey of users experience and satisfaction. Eur J Radiol 2009 0.83
58 Chronic neuropathies - chronic inflammatory demyelinating neuropathy and its variants. Front Neurol Neurosci 2009 0.83
59 Exploiting QSAR methods in lead optimization. Curr Opin Drug Discov Devel 2006 0.82
60 In vivo confocal microscopy of Meissner corpuscles as a novel sensory measure in CMT1A. J Peripher Nerv Syst 2011 0.81
61 Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 2006 0.80
62 Tuning the reactivity of TEMPO by coordination to a Lewis acid: isolation and reactivity of MCl3(η1-TEMPO) (M = Fe, Al). J Am Chem Soc 2012 0.80
63 Anterior tibialis CMAP amplitude correlations with impairment in CMT1A. Muscle Nerve 2013 0.80
64 Sarcoidosis of the cauda equina mimicking Guillain-Barré syndrome. J Neurol Sci 2003 0.80
65 HIV-related peripheral neuropathy and glucose dysmetabolism: study of a public dataset. Neuroepidemiology 2007 0.78
66 Guillain-Barré syndrome. Semin Neurol 2012 0.78
67 A direct route to bis(imido)uranium(V) halides via metathesis of uranium tetrachloride. J Am Chem Soc 2012 0.78
68 Multifocal motor neuropathy. Handb Clin Neurol 2013 0.77
69 Randomized, double-masked, placebo-controlled study to assess the ocular safety of mirabegron in healthy volunteers. J Ocul Pharmacol Ther 2013 0.77
70 Evaluation of a patient with suspected chronic demyelinating polyneuropathy. Handb Clin Neurol 2013 0.76
71 Corneal copper deposition secondary to a variant of multiple myeloma: 30-year catamnesis. Arch Ophthalmol 2006 0.76
72 Generation and display of activity-weighted chemical hyperstructures. J Chem Inf Comput Sci 2003 0.75
73 Tackling neuropathic pain: different perspectives of clinicians and investigators. Neurology 2008 0.75
74 Reply to reflection on MUNE. Muscle Nerve 2015 0.75
75 "Rebooting" the immune system with cyclophosphamide: taking risks for a "cure"? Ann Neurol 2003 0.75
76 August consultation #3. J Cataract Refract Surg 2013 0.75
77 Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. Retin Cases Brief Rep 2013 0.75
78 Second lumbrical and mixed nerve segmental conduction studies in carpal tunnel syndrome. J Clin Neuromuscul Dis 2013 0.75
79 Meeting report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013. J Peripher Nerv Syst 2013 0.75
80 A critical appraisal of structure-based drug design. IDrugs 2006 0.75
81 Influence of plasma exchange on the disposition of the fourth generation cephalosporin cefepime. J Oncol Pharm Pract 2009 0.75
82 Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome. J Clin Neuromuscul Dis 2016 0.75