The Deciphering Developmental Disorders (DDD) study

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

The impact of consanguinity on neonatal and infant health

(2010) A.H. Bittles et al.   EARLY HUMAN DEVELOPMENT

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

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

Massively parallel sequencing and rare disease

(2010) S. B. Ng et al.   HUMAN MOLECULAR GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers 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

Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations

(2008) Susan M. Wolf et al.   JOURNAL OF LAW MEDICINE & ETHICS