164 related articles for article (PubMed ID: 16247296)
1. Technical standards and guidelines: molecular genetic testing for ultra-rare disorders.
Maddalena A; Bale S; Das S; Grody W; Richards S;
Genet Med; 2005 Oct; 7(8):571-83. PubMed ID: 16247296
[TBL] [Abstract][Full Text] [Related]
2. Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.
Spector EB; Grody WW; Matteson CJ; Palomaki GE; Bellissimo DB; Wolff DJ; Bradley LA; Prior TW; Feldman G; Popovich BW; Watson MS; Richards CS
Genet Med; 2005; 7(6):444-53. PubMed ID: 16024978
[TBL] [Abstract][Full Text] [Related]
3. Fragile X syndrome: diagnostic and carrier testing.
Sherman S; Pletcher BA; Driscoll DA
Genet Med; 2005 Oct; 7(8):584-7. PubMed ID: 16247297
[TBL] [Abstract][Full Text] [Related]
4. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.
Monaghan KG; Feldman GL; Palomaki GE; Spector EB; ;
Genet Med; 2008 Jan; 10(1):57-72. PubMed ID: 18197058
[TBL] [Abstract][Full Text] [Related]
5. Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.
Mikhail FM; Heerema NA; Rao KW; Burnside RD; Cherry AM; Cooley LD
Genet Med; 2016 Jun; 18(6):635-42. PubMed ID: 27124785
[TBL] [Abstract][Full Text] [Related]
6. Carrier screening in individuals of Ashkenazi Jewish descent.
Gross SJ; Pletcher BA; Monaghan KG;
Genet Med; 2008 Jan; 10(1):54-6. PubMed ID: 18197057
[TBL] [Abstract][Full Text] [Related]
7. Genome editing in clinical genetics: points to consider-a statement of the American College of Medical Genetics and Genomics.
Acmg Board Of Directors
Genet Med; 2017 Jul; 19(7):723-724. PubMed ID: 28125080
[TBL] [Abstract][Full Text] [Related]
8. Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.
Cooley LD; Morton CC; Sanger WG; Saxe DF; Mikhail FM
Genet Med; 2016 Jun; 18(6):643-8. PubMed ID: 27124786
[TBL] [Abstract][Full Text] [Related]
9. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics.
ACMG Board of Directors
Genet Med; 2015 Jun; 17(6):505-7. PubMed ID: 25764213
[TBL] [Abstract][Full Text] [Related]
10. Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Pasquali M; Yu C; Coffee B
Genet Med; 2018 Jan; 20(1):3-11. PubMed ID: 29261178
[TBL] [Abstract][Full Text] [Related]
11. Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics.
Acmg Board Of Directors
Genet Med; 2017 Jul; 19(7):721-722. PubMed ID: 28055021
[TBL] [Abstract][Full Text] [Related]
12. Considerations in healthcare reform for patients and families with genetic diseases: a statement of the American College of Medical Genetics and Genomics.
Genet Med; 2018 Jun; 20(6):561. PubMed ID: 29388944
[TBL] [Abstract][Full Text] [Related]
13. Evaluation of the adolescent or adult with some features of Marfan syndrome.
Pyeritz RE;
Genet Med; 2012 Jan; 14(1):171-7. PubMed ID: 22237449
[TBL] [Abstract][Full Text] [Related]
14. Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG).
ACMG Board of Directors
Genet Med; 2015 Sep; 17(9):e3. PubMed ID: 26204421
[TBL] [Abstract][Full Text] [Related]
15. Acylcarnitine profile analysis.
Rinaldo P; Cowan TM; Matern D
Genet Med; 2008 Feb; 10(2):151-6. PubMed ID: 18281923
[TBL] [Abstract][Full Text] [Related]
16. Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics.
ACMG Board of Directors
Genet Med; 2016 Feb; 18(2):207-8. PubMed ID: 26681314
[TBL] [Abstract][Full Text] [Related]
17. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.
Shaffer LG;
Genet Med; 2005; 7(9):650-4. PubMed ID: 16301868
[TBL] [Abstract][Full Text] [Related]
18. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Sharer JD; Bodamer O; Longo N; Tortorelli S; Wamelink MM; Young S
Genet Med; 2017 Feb; 19(2):256-263. PubMed ID: 28055022
[TBL] [Abstract][Full Text] [Related]
19. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).
Cherry AM; Akkari YM; Barr KM; Kearney HM; Rose NC; South ST; Tepperberg JH; Meck JM
Genet Med; 2017 Aug; 19(8):845-850. PubMed ID: 28726804
[TBL] [Abstract][Full Text] [Related]
20. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
ACMG Board of Directors
Genet Med; 2015 Jan; 17(1):68-9. PubMed ID: 25356965
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]