PubRank

Stefan J White

Author PubWeight™ 35.94‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Complex SNP-related sequence variation in segmental genome duplications. Nat Genet 2004 5.90
2 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 2005 2.40
3 Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 2006 2.31
4 Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. Eur J Hum Genet 2006 1.93
5 Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005 1.30
6 Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am J Med Genet A 2007 1.08
7 Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. Eur J Hum Genet 2005 1.04
8 Correlating multiallelic copy number polymorphisms with disease susceptibility. Hum Mutat 2012 1.03
9 Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication. BMC Genomics 2014 0.98
10 Refinement of the genetic cause of ATR-16. Hum Genet 2007 0.97
11 MLPA and MAPH: sensitive detection of deletions and duplications. Curr Protoc Hum Genet 2006 0.96
12 Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. J Am Coll Cardiol 2007 0.95
13 SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype. BMC Med Genet 2012 0.91
14 Genetic variation of the Fc gamma receptor 3B gene and association with rheumatoid arthritis. PLoS One 2010 0.90
15 Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet 2005 0.90
16 DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours. BMC Res Notes 2012 0.90
17 Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors. Int J Endocrinol 2012 0.89
18 GILZ overexpression inhibits endothelial cell adhesive function through regulation of NF-κB and MAPK activity. J Immunol 2013 0.89
19 Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. J Clin Endocrinol Metab 2008 0.87
20 The identification of mitochondrial DNA variants in glioblastoma multiforme. Acta Neuropathol Commun 2014 0.87
21 The many faces of MLPA. Methods Mol Biol 2011 0.86
22 Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4. Neurobiol Dis 2006 0.85
23 Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach. BMC Genomics 2009 0.83
24 Role of epigenetics in the etiology of germ cell cancer. Int J Dev Biol 2013 0.81
25 Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration. PLoS One 2012 0.81
26 A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. Hum Genet 2006 0.80
27 Rapid and reliable determination of transgene zygosity in mice by multiplex ligation-dependent probe amplification. Transgenic Res 2009 0.78
28 Detecting DNaseI-hypersensitivity sites with MLPA. Methods Mol Biol 2012 0.76
29 Androgen receptor copy number variation and androgenetic alopecia: a case-control study. PLoS One 2009 0.76
30 No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients. J Pediatr Surg 2013 0.75
31 Identification of Streptococcus parasanguinis DNA contamination in human buccal DNA samples. BMC Res Notes 2013 0.75