PubRank

Murat Sincan

Author PubWeight™ 16.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med 2011 3.14
2 Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology 2012 2.33
3 Detecting false-positive signals in exome sequencing. Hum Mutat 2012 1.87
4 Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat 2012 1.28
5 An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat 2012 1.25
6 Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. Eur J Hum Genet 2011 1.18
7 Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology 2012 1.11
8 Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Neuromuscul Disord 2013 0.90
9 Personalized genomic medicine: lessons from the exome. Mol Genet Metab 2011 0.87
10 Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function. Mol Genet Metab 2011 0.86
11 Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. Eur J Hum Genet 2013 0.79
12 Effects of lossy image compression on quantitative image analysis of cell nuclei. Anal Quant Cytol Histol 2004 0.79