Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles

(2011) K. D. Howarth et al.   GENOME RESEARCH

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The clinical spectrum of complete FBN1 allele deletions

(2010) Yvonne Hilhorst-Hofstee et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes

(2010) Antoinet C.J. Gijsbers et al.   European Journal of Medical Genetics

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

(2009) Anneke T van Silfhout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

(2009) Wei Chen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A 649kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

(2009) Nicolien Hanemaaijer et al.   European Journal of Medical Genetics

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

(2009) Caroline Schluth-Bolard et al.   European Journal of Medical Genetics

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

(2009) Ron Hochstenbach et al.   European Journal of Medical Genetics

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

(2009) Dominic J. McMullan et al.   HUMAN MUTATION

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

(2008) Julia Baptista et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

(2008) Anne W. Higgins et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of theTCF4gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

(2008) Vera M. Kalscheuer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

(2008) Carolina Sismani et al.   Molecular Cytogenetics