Genetic testing: predictive value of genotyping for diagnosis and management of disease

Overview of personalized medicine in the disease genomic era

(2011) Kyung-Won Hong et al.   BMB Reports

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

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

Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes

(2010)   EUROPEAN JOURNAL OF HUMAN GENETICS

Outcomes of interest in evidence-based evaluations of genetic tests

(2010) Jeffrey R Botkin et al.   GENETICS IN MEDICINE

Size of the direct-to-consumer genomic testing market

(2010) Caroline F Wright et al.   GENETICS IN MEDICINE

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

(2010) D. H’mida-Ben Brahim et al.   JOURNAL OF NEUROLOGY

Nanomedicine and personalized medicine toward the application of pharmacotyping in clinical practice to improve drug-delivery outcomes

(2010) Ioannis S. Vizirianakis   Nanomedicine-Nanotechnology Biology and Medicine

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Hearing Impairment: A Panoply of Genes and Functions

(2010) Amiel A. Dror et al.   NEURON

Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome

(2010) Ariel M. Pani et al.   PLoS One

The Genetic Landscape of the Childhood Cancer Medulloblastoma

(2010) D. W. Parsons et al.   SCIENCE

The HapMap and Genome-Wide Association Studies in Diagnosis and Therapy

(2009) Teri A. Manolio et al.   Annual Review of Medicine

Whole genome microarray analysis, from neonatal blood cards

(2009) Jill Hardin et al.   BMC GENETICS

Cell-free fetal DNA and non-invasive prenatal diagnosis

(2009) Imran Rafi et al.   BRITISH JOURNAL OF GENERAL PRACTICE

Ethical and Social Issues in Pharmacogenomics Testing

(2009) S. Vijverberg et al.   CURRENT PHARMACEUTICAL DESIGN

Preimplantation genetic diagnosis: State of the art

(2009) Claire Basille et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Cystic fibrosis: Exploiting its genetic basis in the hunt for new therapies

(2009) James L. Kreindler   PHARMACOLOGY & THERAPEUTICS

Genomic and personalized medicine: foundations and applications

(2009) Geoffrey S. Ginsburg et al.   Translational Research

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

(2008) Iuliana Ionita-Laza et al.   GENOMICS

Predictive genetic testing of children for adult-onset diseases and psychological harm

(2008) P J Malpas   JOURNAL OF MEDICAL ETHICS

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

EuroGentest: DNA-Based Testing for Heritable Disorders in Europe

(2008) Poupak Javaher et al.   Public Health Genomics