PubRank

Jan P Dumanski

Author PubWeight™ 59.61‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008 5.53
2 LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 2004 3.00
3 Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 2004 2.33
4 Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 2008 2.30
5 Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet 2012 2.15
6 Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 2005 1.78
7 A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet 2002 1.69
8 Genomic microarrays in the spotlight. Trends Genet 2004 1.55
9 Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat 2008 1.45
10 High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res 2008 1.34
11 Chromosome 22 array-CGH profiling of breast cancer delimited minimal common regions of genomic imbalances and revealed frequent intra-tumoral genetic heterogeneity. Int J Oncol 2006 1.09
12 A segmental maximum a posteriori approach to genome-wide copy number profiling. Bioinformatics 2008 1.09
13 DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med 2004 1.07
14 The mechanism of cystic fibrosis transmembrane conductance regulator transcriptional repression during the unfolded protein response. J Biol Chem 2008 1.06
15 Microarray-based survey of CpG islands identifies concurrent hyper- and hypomethylation patterns in tissues derived from patients with breast cancer. Genes Chromosomes Cancer 2006 1.05
16 Development of NF2 gene specific, strictly sequence defined diagnostic microarray for deletion detection. J Mol Med (Berl) 2003 1.05
17 Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors. Genes Chromosomes Cancer 2011 1.03
18 A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet A 2007 1.02
19 Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array. Neuro Oncol 2009 1.02
20 Focal amplifications are associated with high grade and recurrences in stage Ta bladder carcinoma. Int J Cancer 2010 0.99
21 Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. Genomics 2006 0.98
22 The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3. Eur J Hum Genet 2002 0.96
23 Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. Am J Med Genet A 2010 0.95
24 Integrative epigenomic and genomic analysis of malignant pheochromocytoma. Exp Mol Med 2010 0.93
25 Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC Genomics 2007 0.93
26 Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat 2005 0.92
27 Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression. Eur J Hum Genet 2010 0.92
28 Comprehensive DNA copy number profiling of meningioma using a chromosome 1 tiling path microarray identifies novel candidate tumor suppressor loci. Cancer Res 2005 0.91
29 High-resolution gene copy number and expression profiling of human chromosome 22 in ovarian carcinomas. Genes Chromosomes Cancer 2005 0.91
30 Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis. Endocr Relat Cancer 2010 0.89
31 Chromosome 22 tiling-path array-CGH analysis identifies germ-line- and tumor-specific aberrations in patients with glioblastoma multiforme. Genes Chromosomes Cancer 2005 0.89
32 Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes Cancer 2009 0.88
33 High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas. Hum Genet 2005 0.88
34 Comparative human/murine sequence analysis of the common eliminated region 1 from human 3p21.3. Mamm Genome 2002 0.87
35 Distal 22q11.2 microduplication encompassing the BCR gene. Am J Med Genet A 2008 0.86
36 Copy-number polymorphisms: mining the tip of an iceberg. Trends Genet 2005 0.83
37 Coincidence of synteny breakpoints with malignancy-related deletions on human chromosome 3. Proc Natl Acad Sci U S A 2003 0.83
38 Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male. Am J Med Genet A 2003 0.81
39 A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. Am J Med Genet A 2007 0.80
40 High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH. Int J Oncol 2003 0.80
41 Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases. J Autoimmun 2008 0.78
42 Mouse cytosolic and mitochondrial deoxyribonucleotidases: cDNA cloning of the mitochondrial enzyme, gene structures, chromosomal mapping and comparison with the human orthologs. Gene 2002 0.78
43 Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. Int J Cancer 2006 0.78
44 Localization of a putative low-penetrance ependymoma susceptibility locus to 22q11 using a chromosome 22 tiling-path genomic microarray. Genes Chromosomes Cancer 2005 0.78
45 Procoagulant activity in patients with sickle cell trait. Blood Coagul Fibrinolysis 2012 0.77
46 Strong conservation of the human NF2 locus based on sequence comparison in five species. Mamm Genome 2003 0.77
47 NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH. Neuromolecular Med 2003 0.77
48 Identification of limited regions of genetic aberrations in patients affected with Wilms' tumor using a tiling-path chromosome 22 array. Int J Cancer 2006 0.76
49 Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). Am J Med Genet A 2007 0.76
50 Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes. PLoS One 2013 0.75
51 Genomic microarrays in the spotlight. Drug Discov Today 2004 0.75
52 Genome-wide microarray-based comparative genomic hybridization analysis of lymphoplasmacytic lymphomas reveals heterogeneous aberrations. Leuk Lymphoma 2009 0.75