Detalles de la búsqueda
1.
Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma.
Mod Pathol
; 37(2): 100385, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37992967
2.
Section E6.1-6.6 of the American College of Medical Genetics and Genomics (ACMG) Technical Laboratory Standards: Cytogenomic studies of acquired chromosomal abnormalities in neoplastic blood, bone marrow, and lymph nodes.
Genet Med
; 26(4): 101054, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38349293
3.
A framework for the clinical implementation of optical genome mapping in hematologic malignancies.
Am J Hematol
; 99(4): 642-661, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38164980
4.
IKZF1PLUS alterations contribute to outcome disparities in Hispanic/Latino children with B-lymphoblastic leukemia.
Pediatr Blood Cancer
; : e30996, 2024 Apr 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-38637852
5.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36074901
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35101336
7.
PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas.
Pediatr Dev Pathol
; 25(2): 134-140, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-34601996
8.
Primary Knee Intra-articular Synovial Sarcoma in Pediatric and Adolescent Patients.
Pediatr Dev Pathol
; 24(2): 159-163, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33470917
9.
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
10.
Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).
Genet Med
; 21(9): 1903-1916, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31138931
11.
Development of second genetically distinct T-lymphoblastic leukemia in a pediatric patient.
Pediatr Blood Cancer
; : e31050, 2024 May 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38736199
12.
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.
Hum Mutat
; 39(11): 1721-1732, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30311370
13.
Efficacy and safety of FLAG-IDA as front-line therapy in de novo paediatric acute myeloid leukaemia population.
Br J Haematol
; 202(1): e3-e6, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37129267
14.
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100316, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36507974
15.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37261438
16.
Increased prevalence of CRLF2 rearrangements in obesity-associated acute lymphoblastic leukemia.
Blood
; 138(2): 199-202, 2021 07 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33876219
17.
Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia.
Pediatr Blood Cancer
; 65(9): e27265, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29797659
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36063163
19.
Response to Mounts and Besser.
Genet Med
; 23(1): 240-242, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32814848
20.
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