Detalhe da pesquisa
1.
Merlin cooperates with neurofibromin and Spred1 to suppress the Ras-Erk pathway.
Hum Mol Genet
; 29(23): 3793-3806, 2021 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33331896
2.
Rare mutation-dominant compound EGFR-positive NSCLC is associated with enriched kinase domain-resided variants of uncertain significance and poor clinical outcomes.
BMC Med
; 21(1): 73, 2023 02 24.
Artigo
Inglês
| MEDLINE | ID: mdl-36829178
3.
Heterogeneity in the immune microenvironment of bone metastasis in driver-positive non-small cell lung cancer.
Mol Carcinog
; 62(7): 1001-1008, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37067398
4.
Prognostic value of genetic aberrations and tumor immune microenvironment in primary acral melanoma.
J Transl Med
; 21(1): 78, 2023 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36739402
5.
Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis.
J Med Genet
; 59(1): 10-17, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33115932
6.
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Hum Mol Genet
; 29(3): 459-470, 2020 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31943016
7.
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Hum Mol Genet
; 29(5): 705-715, 2020 03 27.
Artigo
Inglês
| MEDLINE | ID: mdl-31600777
8.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35616647
9.
A novel intergenic region ALK fusion is targetable by alectinib in a non-small cell lung cancer patient with brain metastasis.
Anticancer Drugs
; 33(10): 1182-1185, 2022 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35946559
10.
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
Am J Hum Genet
; 102(2): 296-308, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29395075
11.
Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.
Am J Hum Genet
; 101(6): 874-887, 2017 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29129316
12.
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.
J Med Genet
; 55(5): 307-315, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29496979
13.
Genetic causes of optic nerve hypoplasia.
J Med Genet
; 54(7): 441-449, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28501829
14.
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
J Biol Chem
; 291(30): 15641-52, 2016 07 22.
Artigo
Inglês
| MEDLINE | ID: mdl-27226556
15.
Autism genetics - an overview.
Prenat Diagn
; 37(1): 14-30, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27743394
16.
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Proc Natl Acad Sci U S A
; 111(31): 11473-8, 2014 Aug 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25049390
17.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Hum Mutat
; 36(11): 1080-7, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26173643
18.
Examining the reliability of the emotional conflict resolution and adaptation effects in the emotional conflict task via secondary data analysis, systematic review, and meta-analysis.
J Exp Psychol Gen
; 153(5): 1361-1373, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38546549
19.
A comparative study of synthetic and venous hematocrit for calculating cardiovascular magnetic resonance-derived extracellular volume.
Int J Cardiovasc Imaging
; 40(4): 769-778, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38175388
20.
Improving water quality and mitigating CH4 and N2O production in urban landscape water simultaneously by optimizing calcium peroxide dosage.
Sci Total Environ
; 927: 172270, 2024 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38583627