Detalles de la búsqueda
1.
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
2.
Response to Spurdle et al.
Genet Med;
25(8): 100869, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37261438
3.
Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations.
Blood;
128(8): 1093-100, 2016 08 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-27325104
4.
Genetic evaluation of juvenile xanthogranuloma: genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity.
Mod Pathol;
30(9): 1234-1240, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28752840
5.
Genomic analysis of follicular dendritic cell sarcoma by molecular inversion probe array reveals tumor suppressor-driven biology.
Mod Pathol;
30(9): 1321-1334, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28621320
6.
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
7.
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
J Med Genet;
53(4): 256-63, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26747863
8.
Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy.
Br J Haematol;
173(1): 49-58, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26728869
9.
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
10.
Mosaic deletion of 20pter due to rescue by somatic recombination.
Am J Med Genet A;
170A(1): 243-8, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26436922
11.
Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
Am J Med Genet A;
170(10): 2580-6, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27549381
12.
Wolf-Hirschhorn syndrome: A review and update.
Am J Med Genet C Semin Med Genet;
169(3): 216-23, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26239400
13.
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med;
22(6): 983-985, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32127695
14.
Response to Maya et al.
Genet Med;
22(7): 1278-1279, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32341575
15.
Turner Syndrome in Girls Presenting with Coarctation of the Aorta.
J Pediatr;
167(5): 1062-6, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26323199
16.
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Am J Hum Genet;
89(1): 28-43, 2011 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21700266
17.
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Genome Res;
21(1): 33-46, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21205869
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.
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
20.
Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability.
Am J Med Genet A;
158A(1): 159-65, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22106001