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1.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med;
25(12): 100947, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37534744
2.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med;
24(1): 179-191, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906456
3.
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med;
23(11): 2029-2037, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34211152
4.
Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo Clinic.
Genet Med;
22(12): 2120-2124, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32820244
5.
Most noninvasive prenatal screens failing due to inadequate fetal cell free DNA are negative for trisomy when repeated.
Prenat Diagn;
40(7): 831-837, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32274800
6.
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Hum Mutat;
40(11): 2108-2120, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31301155
7.
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
Eur J Haematol;
102(1): 87-96, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30270457
8.
Copy number variant analysis using genome-wide mate-pair sequencing.
Genes Chromosomes Cancer;
57(9): 459-470, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29726617
9.
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med;
19(8): 845-850, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28726804
10.
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med;
21(6): 1267-1270, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31015575
11.
ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization.
Genet Med;
21(10): 2405, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31028353
12.
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.
Genet Med;
15(11): 901-9, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-24071793
13.
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
Genet Med;
15(2): 150-2, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23328890
14.
Alström syndrome caused by maternal uniparental disomy.
Am J Ophthalmol Case Rep;
29: 101745, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36636630
15.
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
J Mol Diagn;
25(7): 524-531, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37088140
16.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med;
7(1): 27, 2022 Apr 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35395838
17.
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Genet Med;
13(7): 680-5, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21681106
18.
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.
Genet Med;
13(7): 676-9, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21681105
19.
Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization.
Genet Med;
13(7): 667-75, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21738013
20.
Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia.
Clin Case Rep;
9(2): 769-774, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-33598243