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Large-Scale Copy Number Polymorphism in the Human Genome
TLDR
It is shown that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans.
Strong Association of De Novo Copy Number Mutations with Autism
TLDR
Findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
TLDR
The results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia, and disrupted genes disproportionately from signaling networks controlling neurodevelopment, including neuregulin and glutamate pathways.
Novel patterns of genome rearrangement and their association with survival in breast cancer.
TLDR
Analysis of a selected subset of clinical material suggests that a simple genomic calculation, based on the number and proximity of genomic alterations, correlates with life-table estimates of the probability of overall survival in patients with primary breast cancer.
Oncogenic cooperation and coamplification of developmental transcription factor genes in lung cancer
TLDR
Genetic alterations that directly interfere with transcriptional networks normally regulating lung development may be a more common feature of lung cancer than previously realized.
Microduplications of 16p11.2 are Associated with Schizophrenia
TLDR
A meta-analysis of datasets for multiple psychiatric disorders showed a significant association of the microduplication with schizophrenia, bipolar disorder, and autism, while the reciprocal microdeletion was associated only with autism and developmental disorders.
Genome-wide copy number analysis of single cells
TLDR
A protocol that allows for the genome-wide copy number analysis of single nuclei isolated from mixed populations of cells is presented and informatic approaches that correct for biases inherent in the WGA procedure and allow for accurate determination of copy number profiles are outlined.
Mouse genomic representational oligonucleotide microarray analysis: detection of copy number variations in normal and tumor specimens.
TLDR
A representational oligonucleotide microarray analysis microarray is developed, a high-resolution comparative genomic hybridization methodology, with this aim in mind, and its use in the study of humans is reported.
Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA).
TLDR
Examination of copy number changes in the genomes of B cells from 58 patients with chronic lymphocytic leukemia by using representational oligonucleotide microarray analysis (ROMA), a form of comparative genomic hybridization (CGH), at a resolution exceeding previously published studies found virtually all abnormalities previously reported also were observed.
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