Diagnostic methods including sequencing studies (gene level), transcriptome studies, methylome and other Omics technologies, variant interpretation and functional validation, and bioinformatics and biostatistical methods in genetics; Personalized medicine and therapies, including gene therapy and gene editing, no...
The following are the recommendations of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee, which was convened to assist health care professionals in making decisions regarding cytogenetic diagnostic testing and counseling for mental retardation (MR) and developme...
Beta-thalassemia is caused by the reduced (beta+) or absent (beta0) synthesis of the beta globin chains of the hemoglobin tetramer. Three clinical and hematological conditions of increasing severity are recognized, i.e., the beta-thalassemia carrier stat
Middleton Genetic counselling in the era of genomic medicine Br. Med. Bull. (2018), 10.1093/bmb/ldy008 Google Scholar Pérez de Diego et al., 2010 R. Pérez de Diego, V. Sancho-Shimizu, L. Lorenzo, A. Puel, S. Plancoulaine, C. Picard, M. Herman, A. Cardon, A. Durandy, J. ...
Once the submission materials have been prepared in accordance with the Author Guidelines, manuscripts should be submitted via the journal’s ScholarOne site: https://mc.manuscriptcentral.com/MGGM. For more details on how to use ScholarOne, visit www.wileyauthors.com/scholarone. Note, this journa...
This journal will not accept manuscripts that contain data derived from unethically sourced organs or tissue, including from executed prisoners or prisoners of conscience, consistent with recommendations by Global Rights Compliance on Mitigating Human Rights Risks in Transplantation Medicine. For all studies...
Submission guidelines How to publish with us Fees and funding Calls for papers Language editing Submit your manuscript Journal updates Overview Human Genetics focuses on publishing timely articles covering all aspects of human genetics. It covers a broad range of topics from gene structure and organizat...
International Journal of Genetics and Genomicsmaintains an Editorial Team of practicing researchers from around the world, to ensure manuscripts are handled by editors who are experts in the field of study. Assoc. Prof. Shuaiying Cui Department of Medicine, Boston University, Boston, United States ...
International Journal of Genetics and Genomics maintains an Editorial Team of practicing researchers from around the world, to ensure manuscripts are handled by editors who are experts in the field of study. Assoc. Prof. Shuaiying Cui Department of Medicine, Boston University, Boston, United States...
Go to www.geneticsinmedicine.org for a printable copy of this document Approved by the Board of Directors October 26, 2004 Disclaimer: These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory ge...