PubRank

Feliciano J Ramos

Author PubWeight™ 27.94‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 2006 4.49
2 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007 4.20
3 Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med 2011 3.46
4 Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. Am J Med Genet A 2010 1.26
5 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet 2014 1.25
6 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. Eur J Hum Genet 2006 1.14
7 Molecular genetics of HMG-CoA lyase deficiency. Mol Genet Metab 2007 1.03
8 A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys. Am J Med Genet A 2008 0.96
9 Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A 2010 0.93
10 Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. Neuromuscul Disord 2009 0.92
11 Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria. J Inherit Metab Dis 2010 0.92
12 Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat 2009 0.91
13 De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat 2015 0.87
14 Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway. Mol Biol Rep 2011 0.87
15 Cornelia de Lange syndrome: extending the physical and psychological phenotype. Am J Med Genet A 2010 0.86
16 Human Variome Project country nodes: documenting genetic information within a country. Hum Mutat 2012 0.83
17 Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual. BMC Med Genet 2012 0.79
18 Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria. Hum Mutat 2009 0.79
19 Autoimmune thyroiditis after bone marrow transplantation in a boy with Wiskott-Aldrich syndrome. J Pediatr Hematol Oncol 2002 0.77
20 New ocular findings in two sisters with Yunis-Varón syndrome and literature review. Eur J Med Genet 2010 0.77
21 Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome). Binocul Vis Strabolog Q Simms Romano 2012 0.75
22 Special cases in Cornelia de Lange syndrome: The Spanish experience. Am J Med Genet C Semin Med Genet 2016 0.75