Detalhe da pesquisa
1.
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.
Genes Chromosomes Cancer
; 63(1): e23195, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548271
2.
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion.
Genes Chromosomes Cancer
; 62(10): 611-616, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37132513
3.
Clinical and genomic characterization of an ATRA-insensitive acute promyelocytic leukemia variant with a FNDC3B::RARB fusion.
Genes Chromosomes Cancer
; 62(10): 617-623, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37283355
4.
Rbbp4 loss disrupts neural progenitor cell cycle regulation independent of Rb and leads to Tp53 acetylation and apoptosis.
Dev Dyn
; 251(8): 1267-1290, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266256
5.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
6.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
7.
A CTNNB1-altered medulloblastoma shows the immunophenotypic, DNA methylation and transcriptomic profiles of SHH-activated, and not WNT-activated, medulloblastoma.
Neuropathol Appl Neurobiol
; 48(5): e12815, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35320876
8.
Identification of a novel KMT2A/GIMAP8 gene fusion in a pediatric patient with acute undifferentiated leukemia.
Genes Chromosomes Cancer
; 60(2): 108-111, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33078871
9.
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Am J Hum Genet
; 102(4): 696-705, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29606302
10.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
11.
Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia.
Genes Chromosomes Cancer
; 59(7): 422-427, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196814
12.
PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth.
Mod Pathol
; 33(3): 420-430, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481664
13.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
14.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Am J Med Genet A
; 182(4): 652-658, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883306
15.
RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst.
Genes Chromosomes Cancer
; 58(8): 589-594, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767316
16.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
17.
Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.
Neuropathol Appl Neurobiol
; 50(2): e12971, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488196
18.
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Am J Med Genet A
; 179(4): 570-578, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734472
19.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
J Biol Chem
; 292(9): 3866-3876, 2017 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28057753
20.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
J Clin Immunol
; 38(3): 307-319, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671115