相似文献
1
Mastering genomic terminology.
Genet Med. 2017 May;19(5):491-492. doi: 10.1038/gim.2016.139. Epub 2016 Sep 22.
2
Report--21st century medical genetic and genomic medicine in China.
J Zhejiang Univ Sci B. 2005 Dec;6(12):1223-6. doi: 10.1631/jzus.2005.B1223.
3
Current needs for human and medical genomics research infrastructure in low and middle income countries.
J Med Genet. 2016 Jul;53(7):438-40. doi: 10.1136/jmedgenet-2015-103631. Epub 2016 Jan 6.
4
[Genetics, genomics and medicine].
Presse Med. 2012 Jan;41(1):1-2. doi: 10.1016/j.lpm.2011.09.003. Epub 2011 Oct 12.
5
American College of Medical Genetics and Genomics: revised scope of practice and strategic plan.
Genet Med. 2015 Sep;17(9):713. doi: 10.1038/gim.2015.97. Epub 2015 Jul 23.
6
Human genomics in cardiovascular medicine: implications and perspectives.
Circ J. 2013;77(4):876-85. doi: 10.1253/circj.cj-13-0126. Epub 2013 Mar 8.
7
Genomics moves into the clinic.
Biotechniques. 2012 Feb;52(2):73-6. doi: 10.2144/000113806.
8
How accurate are cancer cell lines?
Nature. 2010 Feb 18;463(7283):858. doi: 10.1038/463858a.
9
Genomics and personalized medicine.
FDA Consum. 2005 Nov-Dec;39(6):12-7.
10
Exploring priorities for public health genomics.
Genet Test Mol Biomarkers. 2011 Nov;15(11):741-2. doi: 10.1089/gtmb.2011.1525.
引用本文的文献
1
Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.
Hum Genomics. 2025 Jul 21;19(1):83. doi: 10.1186/s40246-025-00797-8.
2
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
HGG Adv. 2025 Apr 29;6(3):100445. doi: 10.1016/j.xhgg.2025.100445.
3
Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.
Kidney Int Rep. 2024 Dec 27;10(3):673-695. doi: 10.1016/j.ekir.2024.12.020. eCollection 2025 Mar.
4
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med. 2024 Jul;26(7):101142. doi: 10.1016/j.gim.2024.101142. Epub 2024 May 31.
5
No Racial Disparities Observed Using Point-of-Care Genetic Counseling and Testing for Endometrial and Ovarian Cancer in a Diverse Patient Population: A Retrospective Cohort Study.
Cancers (Basel). 2024 Apr 22;16(8):1598. doi: 10.3390/cancers16081598.
6
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.
Biology (Basel). 2024 Feb 2;13(2):93. doi: 10.3390/biology13020093.
7
The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis.
J Pers Med. 2023 Mar 4;13(3):471. doi: 10.3390/jpm13030471.
8
Prenatal exome and genome sequencing for fetal structural abnormalities.
Am J Obstet Gynecol. 2023 Feb;228(2):140-149. doi: 10.1016/j.ajog.2022.08.040. Epub 2022 Aug 24.
9
What's in a Name? Parents' and Healthcare Professionals' Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes.
J Pers Med. 2022 Aug 18;12(8):1327. doi: 10.3390/jpm12081327.
10
Genetic testing and screening in children.
Paediatr Child Health. 2022 Jul 18;27(4):243-253. doi: 10.1093/pch/pxac028. eCollection 2022 Jul.
本文引用的文献
1
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
2
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778.
3
Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species.
Curr Opin Cell Biol. 2005 Jun;17(3):316-25. doi: 10.1016/j.ceb.2005.04.005.
4
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.
Nat Rev Mol Cell Biol. 2004 Feb;5(2):89-99. doi: 10.1038/nrm1310.
Zotero 插件