Detection of clinically relevant exonic copy-number changes by array CGH

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

(2010) Matteo Bovolenta et al.   BMC Medical Genetics

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2→q24.3 in a girl with autistic features and developmental delay

(2010) Chih-Ping Chen et al.   European Journal of Medical Genetics

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

(2009) Paweł Stankiewicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

(2009) S Ben-Shachar et al.   CLINICAL GENETICS

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Human copy number polymorphic genes

(2009) J.A. Bailey et al.   CYTOGENETIC AND GENOME RESEARCH

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

(2009) Marian AJ Weterman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

(2009) Marwan K Tayeh et al.   GENETICS IN MEDICINE

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

(2009) Ayman W. El-Hattab et al.   HUMAN GENETICS

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Intragenic deletion ofTRIM32in compound heterozygotes with sarcotubular myopathy/LGMD2H

(2009) Kristian Borg et al.   HUMAN MUTATION

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

(2009) Ayelet Erez et al.   NEUROGENETICS

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

(2008) Lina Shao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

(2008) Matteo Bovolenta et al.   BMC GENOMICS

Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions

(2008) L.-J. C. Wong et al.   CLINICAL CHEMISTRY

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

(2008) Yoann Saillour et al.   HUMAN MUTATION

Detection and precise mapping of germline rearrangements inBRCA1, BRCA2, MSH2, andMLH1using zoom-in array comparative genomic hybridization (aCGH)

(2008) Johan Staaf et al.   HUMAN MUTATION

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

(2008) Daniela del Gaudio et al.   HUMAN MUTATION

Microarray-based mutation detection in thedystrophingene

(2008) Madhuri R. Hegde et al.   HUMAN MUTATION

Rare mutations ofFGFR2causing apert syndrome: identification of the first partial gene deletion, and anAluelement insertion from a new subfamily

(2008) Elena G. Bochukova et al.   HUMAN MUTATION

Alternative Splicing in Colon, Bladder, and Prostate Cancer Identified by Exon Array Analysis

(2008) Kasper Thorsen et al.   MOLECULAR & CELLULAR PROTEOMICS

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

(2008) Sheila Unger et al.   NATURE GENETICS

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

(2008) X.-Y. Lu et al.   PEDIATRICS

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE