Incidental copy-number variants identified by routine genome testing in a clinical population

Taxonomizing, sizing and overcoming the incidentalome

(2012) Isaac S. Kohane et al.   GENETICS IN MEDICINE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Social and ethical implications of BRCA testing

(2011) A. Surbone   ANNALS OF ONCOLOGY

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility

(2011) C. A. Cassa et al.   GENOME RESEARCH

Next-Generation DNA Sequencing, Regulation, and the Limits of Paternalism

(2011) James P. Evans et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Unexpected findings in cancer predisposition genes detected by array comparative genomic hybridisation: what are the issues?

(2011) G. Pichert et al.   JOURNAL OF MEDICAL GENETICS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants

(2010) Richard R. Fabsitz et al.   Circulation-Cardiovascular Genetics

Deletion and duplication of 15q24: Molecular mechanisms and potential modification by additional copy number variants

(2010) Ayman W El-Hattab et al.   GENETICS IN MEDICINE

CLIA-tested genetic variants on commercial SNP arrays: Potential for incidental findings in genome-wide association studies

(2010) Andrew D Johnson et al.   GENETICS IN MEDICINE

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Clinical assessment incorporating a personal genome

(2010) Euan A Ashley et al.   LANCET

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

(2009) Sara Anne Adams et al.   GENETICS IN MEDICINE

Direct to consumer genetic testing: Avoiding a culture war

(2009) James P Evans et al.   GENETICS IN MEDICINE

The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues

(2008) Stuart Hogarth et al.   Annual Review of Genomics and Human Genetics

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Understanding Incidental Findings in the Context of Genetics and Genomics

(2008) Mildred K. Cho   JOURNAL OF LAW MEDICINE & ETHICS

Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations

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

Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

(2008) Weimin Bi et al.   PRENATAL DIAGNOSIS