Detalhe da pesquisa
1.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
2.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270457
8.
Copy number variant analysis using genome-wide mate-pair sequencing.
Genes Chromosomes Cancer
; 57(9): 459-470, 2018 09.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31028353
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-23328890
13.
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.
Genet Med
; 15(11): 901-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24071793
14.
Alström syndrome caused by maternal uniparental disomy.
Am J Ophthalmol Case Rep
; 29: 101745, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636630
15.
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
J Mol Diagn
; 25(7): 524-531, 2023 07.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33598243