Detalhe da pesquisa
1.
Guiding the global evolution of cytogenetic testing for hematologic malignancies.
Blood
; 139(15): 2273-2284, 2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35167654
2.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100336, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524989
3.
Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group.
Genes Chromosomes Cancer
; 61(12): 710-719, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35771717
4.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
; 104(1): 35-44, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554721
5.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(5): 986-998, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101336
6.
Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing.
Clin Chem
; 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712659
7.
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100874, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37378664
8.
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
9.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(9): 1991, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063163
10.
A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.
Neurooncol Adv
; 6(1): vdad163, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38213835
11.
Molecular Pathology Education: A Suggested Framework for Primary Care Resident Training in Genomic Medicine: A Report of the Association for Molecular Pathology Training and Education Committee.
J Mol Diagn
; 24(5): 430-441, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35304347
12.
Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Arch Pathol Lab Med
; 145(2): 176-190, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886736
13.
Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia.
Cancer Genet
; 243: 52-72, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32302940
14.
Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL.
Leuk Lymphoma
; 63(9): 2243-2246, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506873
15.
CRELD2: gene mapping, alternate splicing, and comparative genomic identification of the promoter region.
Gene
; 382: 111-20, 2006 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16919896
16.
Interstrand crosslink-induced radials form between non-homologous chromosomes, but are absent in sex chromosomes.
DNA Repair (Amst)
; 3(5): 535-42, 2004 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-15084315