PubRank

Roger E Stevenson

Author PubWeight™ 105.70‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008 10.88
2 A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008 8.44
3 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009 8.30
4 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet 2007 2.51
5 Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet 2007 2.35
6 SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008 2.16
7 Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 2007 2.07
8 Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 2006 2.03
9 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 2007 2.02
10 Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A 2009 1.93
11 Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet 2006 1.85
12 A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A 2012 1.85
13 Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 2008 1.81
14 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 2005 1.79
15 A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A 2004 1.79
16 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet 2010 1.60
17 Adverse birth outcome among mothers with low serum cholesterol. Pediatrics 2007 1.58
18 Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Nat Genet 2010 1.52
19 Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 2012 1.50
20 X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet 2003 1.45
21 Economic evaluation of a neural tube defect recurrence-prevention program. Am J Prev Med 2008 1.42
22 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet 2012 1.36
23 Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A 2005 1.35
24 AGTR2 mutations in X-linked mental retardation. Science 2002 1.34
25 A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum Mol Genet 2005 1.32
26 A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 2003 1.32
27 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet 2002 1.27
28 An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet 2012 1.16
29 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet A 2011 1.14
30 The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab 2007 1.13
31 Fragile X syndrome detection in newborns-pilot study. Genet Med 2008 1.12
32 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet 2009 1.11
33 Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet A 2011 1.10
34 X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 2006 1.06
35 Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat 2011 1.06
36 Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet 2002 1.04
37 Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. Proc Natl Acad Sci U S A 2011 1.03
38 Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002 1.02
39 FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med 2009 1.00
40 Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet 2004 0.99
41 Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. Am J Med Genet A 2008 0.97
42 Decreased tryptophan metabolism in patients with autism spectrum disorders. Mol Autism 2013 0.97
43 X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation. Genome Res 2007 0.96
44 Natural history of Christianson syndrome. Am J Med Genet A 2010 0.96
45 Gastroschisis: clinical presentation and associations. Am J Med Genet C Semin Med Genet 2008 0.94
46 Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. Am J Med Genet A 2008 0.93
47 Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome. Eur J Hum Genet 2005 0.92
48 Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. Am J Med Genet A 2011 0.92
49 A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. Am J Med Genet A 2006 0.88
50 Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet 2012 0.87
51 Long term maintenance of neural tube defects prevention in a high prevalence state. J Pediatr 2011 0.86
52 Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome. Neurogenetics 2007 0.86
53 Finding new etiologies of mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol 2008 0.85
54 The impact of spermine synthase (SMS) mutations on brain morphology. Neurogenetics 2009 0.85
55 Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. Am J Med Genet A 2014 0.83
56 Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood. Am J Med Genet C Semin Med Genet 2015 0.82
57 Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). Methods Mol Biol 2011 0.82
58 Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3. Am J Med Genet A 2010 0.82
59 XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Med Genet 2005 0.82
60 The intellectual disabilities evaluation and advice system (IDEAS): outcome of the first 55 cases. Am J Med Genet A 2014 0.80
61 Shashi XLMR syndrome: report of a second family. Am J Med Genet A 2003 0.80
62 Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. Am J Med Genet A 2003 0.79
63 Periconceptional multivitamin folic acid use, dietary folate, total folate and risk of neural tube defects in South Carolina. Ann Epidemiol 2003 0.79
64 Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles. Birth Defects Res A Clin Mol Teratol 2009 0.77
65 Partial ATRX gene duplication causes ATR-X syndrome. Am J Med Genet A 2009 0.77
66 Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. Hum Genet 2009 0.77
67 Prevalence of aneuploidies in South Carolina in the 1990s. Genet Med 2002 0.77
68 AGTR2 in brain development and function. Am J Med Genet A 2006 0.76
69 Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. Hum Genet 2009 0.76
70 Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. Am J Med Genet A 2012 0.75
71 Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. Hum Genet 2009 0.75
72 Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Am J Med Genet A 2003 0.75
73 Clinical utility of the X-chromosome array. Am J Med Genet A 2012 0.75
74 Dietary intake and blood folate levels in Honduran women of childbearing age. J Child Neurol 2002 0.75
75 Angelman syndrome with a 15q11q13 deletion in a mother and daughter. Clin Dysmorphol 2022 0.75
76 Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations. Am J Med Genet A 2007 0.75