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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.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31690835
6.
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
7.
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
8.
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
9.
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
10.
Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays.
Genet Med
; 20(12): 1522-1527, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29565418
11.
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100867, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37310422
12.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37261438
13.
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
14.
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 23(11): 2230, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33731880
15.
Response to Maya et al.
Genet Med
; 22(7): 1278-1279, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32341575
16.
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
17.
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
18.
Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.
J Genet Couns
; 23(6): 922-7, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25120037
19.
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
20.
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