Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

(2011) Hutton M Kearney 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

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders

(2011) Arivudainambi Ramalingam et al.   JOURNAL OF HUMAN GENETICS

The value of data

(2011) Barend Mons et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

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

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

(2009) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

(2009) Karen D Tsuchiya et al.   GENETICS IN MEDICINE

Presented Abstracts from the Twenty-Eighth Annual Education Conference of the National Society of Genetic Counselors (Atlanta, Georgia, November 2009)

(2009) Courtney Sebold et al.   Journal of Genetic Counseling

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mining phenotypes for gene function prediction

(2008) Philip Groth et al.   BMC BIOINFORMATICS

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