Tavsiye Edilen Yayınlar

Tıbbi Genetik Derneği Tarafından Tavsiye Edilen Yayınlar

 

The American Journal of Human Genetics; The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities           Link

Nature Reviews Genetics; Single-cell genome sequencing: current state of the science                 Link

Nature Reviews Genetics; Unravelling the human genome–phenome relationship using phenome-wide association studies                 Link

Nature Reviews Genetics; RNA mis-splicing in disease            Link

The American Journal of Human Genetics; A Genetic-Pathophysiological Framework for Craniosynostosis         Link

Neuromuscular Disorders; Approach to the diagnosis of congenital myopathies         Link

Trends in Genetics; Human Structural Variation Mechanisms of Chromosome Rearrangements           Link

American Journal of Medical Genetics Part A; Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision             Link

Human Mutation; Rapid Detection of Rare Deleterious Variants by NGS              Link

Coming of age: ten years of next- generation sequencing technologies         Link

https://cser-consortium.org/publications

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium      Link

New study challenges gold standard for validating DNA sequencing results Link

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessments Link

Arda Cetinkaya, Nurten Akarsu et al. AJHG. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. Link