PubRank

Trent Burgess

Author PubWeight™ 19.41‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet 2010 1.31
2 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet 2009 1.30
3 High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. Am J Med Genet A 2006 1.12
4 An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1). Mol Cytogenet 2008 1.12
5 FOXP1 mutations cause intellectual disability and a recognizable phenotype. Am J Med Genet A 2013 1.04
6 A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. Genet Med 2008 1.00
7 Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat 2011 0.99
8 Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. Hum Mutat 2004 0.96
9 A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33. PLoS One 2010 0.95
10 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A 2013 0.94
11 Phenotype in novel Xp duplication. Am J Med Genet A 2012 0.94
12 Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet A 2011 0.93
13 Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. Am J Med Genet A 2010 0.92
14 Questionable pathogenicity of FOXG1 duplication. Eur J Hum Genet 2012 0.90
15 Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. Eur J Hum Genet 2010 0.89
16 Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms. Am J Med Genet A 2009 0.86
17 High resolution chromosomal microarray in undiagnosed neurological disorders. J Paediatr Child Health 2013 0.84
18 Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders. BMC Clin Pathol 2009 0.83
19 Copy-number variation associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 2014 0.81
20 White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study. Neurodegener Dis 2013 0.75
21 Neonatal presentation of chromosome 9q33.2-q34.3 duplication. Gene 2013 0.75