Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

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

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies

(2010) Martin Poot et al.   GENETICS IN MEDICINE

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

(2009) H. Whitby et al.   CYTOGENETIC AND GENOME RESEARCH

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

(2009) Antoinet CJ Gijsbers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

(2009) Hilde Van Esch et al.   European Journal of Medical Genetics

The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height

(2009) Karen Buysse et al.   European Journal of Medical Genetics

Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience

(2009) Karen Buysse et al.   European Journal of Medical Genetics

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

(2009) J Knijnenburg et al.   JOURNAL OF MEDICAL GENETICS

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

(2009) Sandro Rossetti et al.   KIDNEY INTERNATIONAL

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

(2008) Dries Castermans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS