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1.
Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; : 101145, 2024 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38836869
2.
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; : 101137, 2024 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38814327
3.
The 2019 medical genetics workforce: A focus on laboratory geneticists.
Genet Med
; 25(6): 100834, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36999554
4.
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(5): 799-812, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33795824
5.
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 1793-1806, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34285390
6.
Novel CTNND2-TERT fusion in a spindle cell liposarcoma.
Genes Chromosomes Cancer
; 59(9): 544-548, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32352179
7.
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
Hum Mutat
; 40(11): 2044-2056, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31237724
8.
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100803, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36920474
9.
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100017, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36799919
10.
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100804, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36971772
11.
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.
Clin Genet
; 104(1): 139-141, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36840469
12.
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(7): 1179-1184, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33864022
13.
Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Genet Med
; 23(12): 2462, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33046848
14.
Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(10): 2015, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34453133
15.
The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
Am J Med Genet A
; 170(9): 2416-20, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27338032
16.
Foxo3a drives proliferation in anaplastic thyroid carcinoma through transcriptional regulation of cyclin A1: a paradigm shift that impacts current therapeutic strategies.
J Cell Sci
; 125(Pt 18): 4253-63, 2012 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22718346
17.
Methylation signatures as biomarkers for non-invasive early detection of breast cancer: A systematic review of the literature.
Cancer Genet
; 282-283: 1-8, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38134587
18.
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants.
Biomark Insights
; 18: 11772719231178618, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37313115
19.
Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies.
Front Genet
; 14: 1067457, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36845394
20.
Evaluating direct amplification from viral transport medium for SARS-CoV-2 detection, strain typing, and angiotensin-converting enzyme genotyping and expression assays.
Lab Med
; 2023 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37565752