Detalhe da pesquisa
1.
A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases.
Cell
; 172(5): 1050-1062.e14, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474906
2.
The Regulatory Factor ZFHX3 Modifies Circadian Function in SCN via an AT Motif-Driven Axis.
Cell
; 162(3): 607-21, 2015 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26232227
3.
A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases.
Cell
; 173(6): 1549, 2018 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29856958
4.
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Hum Mol Genet
; 33(8): 724-732, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271184
5.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352859
6.
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.
J Med Genet
; 61(5): 483-489, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160042
7.
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Breast Cancer Res
; 26(1): 6, 2024 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195559
8.
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
N Engl J Med
; 384(5): 428-439, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471991
9.
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Bioinformatics
; 39(4)2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37021934
10.
Same day discharge colon surgery: is it financially worth it?
Colorectal Dis
; 26(4): 669-674, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38372024
11.
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725546
12.
SOX9 modulates cancer biomarker and cilia genes in pancreatic cancer.
Hum Mol Genet
; 30(6): 485-499, 2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693707
13.
Cognitive issues in patients with IDH mutant gliomas: from neuroscience to clinical neuropsychology.
J Neurooncol
; 162(3): 525-533, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36940053
14.
Mitigating Radiotoxicity in the Central Nervous System: Role of Proton Therapy.
Curr Treat Options Oncol
; 24(11): 1524-1549, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728819
15.
Dissociable effects of visual crowding on the perception of color and motion.
Proc Natl Acad Sci U S A
; 117(14): 8196-8202, 2020 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193344
16.
Objective assessment of stored blood quality by deep learning.
Proc Natl Acad Sci U S A
; 117(35): 21381-21390, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32839303
17.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
18.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979650
19.
The splicing effect of variants at branchpoint elements in cancer genes.
Genet Med
; 24(2): 398-409, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906448
20.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906479