Published in Methods Mol Biol on January 01, 2012
Single cell genomics: advances and future perspectives. PLoS Genet (2014) 2.16
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
Somatic mutation in single human neurons tracks developmental and transcriptional history. Science (2015) 1.97
Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications. Nat Genet (2013) 1.04
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet (2012) 0.99
Somatic mosaicism: on the road to cancer. Nat Rev Cancer (2015) 0.83
Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. BMC Genomics (2015) 0.82
In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research. Mol Cytogenet (2014) 0.81
Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive. Mol Cell Biol (2016) 0.80
Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. Postgrad Med J (2013) 0.77
Twin Mitochondrial Sequence Analysis. Mol Genet Genomic Med (2013) 0.77
GSTM1 and GSTM5 Genetic Polymorphisms and Expression in Age-Related Macular Degeneration. Curr Eye Res (2015) 0.76
Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. Fam Cancer (2014) 0.76
Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism. Int J Genomics (2015) 0.75
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
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet (2008) 5.53
Age-related somatic structural changes in the nuclear genome of human blood cells. Am J Hum Genet (2012) 2.15
The signal transducers Stat1 and Stat3 and their novel target Jmjd3 drive the expression of inflammatory genes in microglia. J Mol Med (Berl) (2013) 1.64
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
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
A segmental maximum a posteriori approach to genome-wide copy number profiling. Bioinformatics (2008) 1.09
The mechanism of cystic fibrosis transmembrane conductance regulator transcriptional repression during the unfolded protein response. J Biol Chem (2008) 1.06
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet A (2007) 1.02
Characterization of novel and complex genomic aberrations in glioblastoma using a 32K BAC array. Neuro Oncol (2009) 1.02
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
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
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2. Hum Mutat (2005) 0.92
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
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
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
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
Distal 22q11.2 microduplication encompassing the BCR gene. Am J Med Genet A (2008) 0.86
Copy-number polymorphisms: mining the tip of an iceberg. Trends Genet (2005) 0.83
Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene. Hum Mutat (2014) 0.80
Regeneration of comparative genomic hybridization oligonucleotide microarrays with dimethylurea. Anal Biochem (2012) 0.80
Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. Int J Cancer (2006) 0.78
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
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
A genome-wide transcriptional profiling of sporulating Bacillus subtilis strain lacking PrpE protein phosphatase. Mol Genet Genomics (2013) 0.75
The phytochemical and genetic survey of common and dwarf juniper (Juniperus communis and Juniperus nana) identifies chemical races and close taxonomic identity of the species. Planta Med (2006) 0.75
Two-stage system for micropropagation of several Genista plants producing large amounts of phytoestrogens. Z Naturforsch C (2005) 0.75