Search Results - "Peiffer, Daniel A"
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High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
Published in Genome Research (01-09-2006)“…Array-CGH is a powerful tool for the detection of chromosomal aberrations. The introduction of high-density SNP genotyping technology to genomic profiling,…”
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Increased LIS1 expression affects human and mouse brain development
Published in Nature Genetics (01-02-2009)“…James Lupski, Orly Reiner and colleagues report seven individuals with submicroscopic copy number gains in the 17p13.3 region, supported by additional studies…”
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Power to detect risk alleles using genome-wide tag SNP panels
Published in PLoS genetics (01-10-2007)“…Advances in high-throughput genotyping and the International HapMap Project have enabled association studies at the whole-genome level. We have constructed…”
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Deletion at fragile sites is a common and early event in Barrett's esophagus
Published in Molecular cancer research (01-08-2010)“…Barrett's esophagus (BE) is a premalignant intermediate to esophageal adenocarcinoma, which develops in the context of chronic inflammation and exposure to…”
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Schnurri transcription factors from Drosophila and vertebrates can mediate Bmp signaling through a phylogenetically conserved mechanism
Published in Development (Cambridge) (15-10-2006)“…Bone Morphogenetic Proteins (Bmps) are secreted growth factors that play crucial roles in animal development across the phylogenetic spectrum. Bmp signaling…”
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Phylogenetic footprinting and genome scanning identify vertebrate BMP response elements and new target genes
Published in Developmental biology (15-05-2005)“…The complex gene regulatory networks governed by growth factor signaling are still poorly understood. In order to accelerate the rate of progress in uncovering…”
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Published in Genetics in medicine (01-07-2007)“…Williams-Beuren syndrome is among the most well-characterized microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by…”
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Genomic profiling of 766 cancer‐related genes in archived esophageal normal and carcinoma tissues
Published in International journal of cancer (15-05-2008)“…We employed the BeadArray™ technology to perform a genetic analysis in 33 formalin‐fixed, paraffin‐embedded (FFPE) human esophageal carcinomas, mostly…”
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Single nucleotide polymorphism-based genome-wide chromosome copy change, loss of heterozygosity, and aneuploidy in Barrett's esophagus neoplastic progression
Published in Cancer prevention research (Philadelphia, Pa.) (01-11-2008)“…Chromosome copy gain, loss, and loss of heterozygosity (LOH) involving most chromosomes have been reported in many cancers; however, less is known about…”
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Design of tag SNP whole genome genotyping arrays
Published in Methods in molecular biology (Clifton, N.J.) (2009)“…Whole genome association studies have recently been enabled by combining tag SNP information derived from the International HapMap project with novel whole…”
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Microarray optimizations: increasing spot accuracy and automated identification of true microarray signals
Published in Nucleic acids research (15-06-2002)“…In this paper, fluorescent microarray images and various analysis techniques are described to improve the microarray data acquisition processes. Signal…”
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Delineation of the proximal 3q microdeletion syndrome
Published in American journal of medical genetics. Part A (01-07-2008)“…Interstitial deletions of the proximal long arm of chromosome 3 are very rare and a defined clinical phenotype is not established yet. We report on the…”
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Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA
Published in American journal of medical genetics. Part A (15-12-2007)“…A patient whose dysmorphism at birth was not diagnostic for Pallister–Killian syndrome (PKS) was found to have mosaic tetrasomy 12p by an array‐based…”
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Identification of neural genes using Xenopus DNA microarrays
Published in Developmental dynamics (01-02-2005)“…To isolate novel genes regulating neural induction, we used a DNA microarray approach. As neural induction is thought to occur by means of the inhibition of…”
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A Xenopus DNA microarray approach to identify novel direct BMP target genes involved in early embryonic development
Published in Developmental dynamics (01-02-2005)“…Bone morphogenetic proteins (BMPs), a subgroup of the transforming growth factor‐beta (TGF‐β) superfamily, were originally isolated from bone on the basis of…”
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Mapping and sequencing of structural variation from eight human genomes
Published in Nature (01-05-2008)“…Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes…”
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Increased LIS1 expression affects human and mouse brain development: Making diversity count
Published in Nature genetics (2009)Get full text
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SNP-based Genome-wide Chromosome Copy Change, LOH, and Aneuploidy in Barrett’s Esophagus Neoplastic Progression
Published in Cancer prevention research (Philadelphia, Pa.) (01-11-2008)Get full text
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Mapping and sequencing of structural variation from eight human genomes: Making diversity count
Published in Nature genetics (2009)Get full text
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20
Identification of neural genes usingXenopus DNA microarrays
Published in Developmental dynamics (01-05-2005)Get full text
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