Detalhe da pesquisa
1.
Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma.
Nature
; 596(7872): 398-403, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34349258
2.
3'RNA and whole-genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG1.
Genes Chromosomes Cancer
; 62(1): 27-38, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822448
3.
Lung metastases and subsequent malignant transformation of a fumarate hydratase -deficient uterine leiomyoma.
Exp Mol Pathol
; 126: 104760, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35367216
4.
MIPUP: minimum perfect unmixed phylogenies for multi-sampled tumors via branchings and ILP.
Bioinformatics
; 35(5): 769-777, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30101335
5.
Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers.
Proc Natl Acad Sci U S A
; 113(5): 1315-20, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26787895
6.
Clonally related uterine leiomyomas are common and display branched tumor evolution.
Hum Mol Genet
; 24(15): 4407-16, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25964426
7.
Global metabolomic profiling of uterine leiomyomas.
Br J Cancer
; 117(12): 1855-1864, 2017 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073636
8.
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Br J Cancer
; 114(12): 1405-11, 2016 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27187686
9.
Characterization of uterine leiomyomas by whole-genome sequencing.
N Engl J Med
; 369(1): 43-53, 2013 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23738515
10.
A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype.
J Neuroophthalmol
; 41(1): e85-e88, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141982
11.
Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas.
Hum Mutat
; 35(9): 1136-41, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24980722
12.
Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation.
Elife
; 122024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38661530
13.
Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation.
medRxiv
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909455
14.
Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
NPJ Precis Oncol
; 7(1): 1, 2023 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36593350
15.
Associations Between Cancer Predisposition Mutations and Clonal Hematopoiesis in Patients With Solid Tumors.
JCO Precis Oncol
; 7: e2300070, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561983
16.
NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.
Clin Cancer Res
; 29(2): 422-431, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36346689
17.
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants.
bioRxiv
; 2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168194
18.
A novel uterine leiomyoma subtype exhibits NRF2 activation and mutations in genes associated with neddylation of the Cullin 3-RING E3 ligase.
Oncogenesis
; 11(1): 52, 2022 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068196
19.
Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma.
Mol Diagn Ther
; 26(6): 645-653, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36178671
20.
Genetic Ancestry Correlates with Somatic Differences in a Real-World Clinical Cancer Sequencing Cohort.
Cancer Discov
; 12(11): 2552-2565, 2022 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048199