The impact of chromosomal microarray on clinical management: a retrospective analysis

Chromosomal microarray impacts clinical management

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Phenotypic variability of atypical 22q11.2 deletions not includingTBX1

(2012) Judith M.A. Verhagen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Perinatal Detection of Familial Adenomatous Polyposis

(2012) Meredith L. Birsner et al.   OBSTETRICS AND GYNECOLOGY

Clinical Utility of Chromosomal Microarray Analysis

(2012) J. W. Ellison et al.   PEDIATRICS

Chromosomal microarray testing influences medical management

(2011) Michael E. Coulter et al.   GENETICS IN MEDICINE

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE 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

The clinical spectrum of complete FBN1 allele deletions

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

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

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

(2010) Heather C. Mefford et al.   PLoS 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

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consensus Statement on the Diagnosis and Treatment of Children with Idiopathic Short Stature: A Summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop

(2008) P. Cohen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE