SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

The phenotype of recurrent 10q22q23 deletions and duplications

(2011) Bregje W M van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homozygosity mapping in outbred families with mental retardation

(2011) Janneke H M Schuurs-Hoeijmakers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

SNP array analysis in hematologic malignancies: avoiding false discoveries

(2010) S. Heinrichs et al.   BLOOD

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

(2010) B. H. W. Faas et al.   JOURNAL OF MEDICAL GENETICS

Array-Based Karyotyping for Prognostic Assessment in Chronic Lymphocytic Leukemia

(2010) Jill M. Hagenkord et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Genomic profiling of high-risk acute lymphoblastic leukemia

(2010) J R Collins-Underwood et al.   LEUKEMIA

IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALL

(2010) R P Kuiper et al.   LEUKEMIA

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

(2010) Jayne Y. Hehir-Kwa et al.   PLoS Computational Biology

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

(2009) JM Friedman et al.   BMC GENOMICS

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

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

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 single-nucleotide polymorphism array-profiling in myeloproliferative neoplasms identifies novel genomic aberrations

(2009) F. Stegelmann et al.   HAEMATOLOGICA

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

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

High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings

(2009) M Tyreman et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

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

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

The rewards and challenges of array-based karyotyping for clinical oncology applications

(2009) J M Hagenkord et al.   LEUKEMIA

Acquired mutations in TET2 are common in myelodysplastic syndromes

(2009) Saskia M C Langemeijer et al.   NATURE GENETICS

Deletion ofIKZF1and Prognosis in Acute Lymphoblastic Leukemia

(2009) Charles G. Mullighan et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

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

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

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia

(2007) Ankita Patel et al.   AMERICAN JOURNAL OF HEMATOLOGY