Detalhe da pesquisa
1.
Natural and inducible TH17 cells are regulated differently by Akt and mTOR pathways.
Nat Immunol
; 14(6): 611-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644504
2.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442410
3.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
4.
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(3): 453-461, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732716
5.
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Hum Mutat
; 40(12): 2197-2220, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343788
6.
The aryl hydrocarbon receptor nuclear translocator is an essential regulator of murine hematopoietic stem cell viability.
Blood
; 125(21): 3263-72, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25855602
7.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 103(4): 631, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290155
8.
BRAT1-related disease--identification of a patient without early lethality.
Am J Med Genet A
; 170(3): 699-702, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26494257
9.
The aryl hydrocarbon receptor promotes IL-10 production by NK cells.
J Immunol
; 192(4): 1661-70, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24403534
10.
Inhibition of hypoxia-inducible factors limits tumor progression in a mouse model of colorectal cancer.
Carcinogenesis
; 35(5): 1067-77, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24408928
11.
Neural tube defects and atypical deletion on 22q11.2.
Am J Med Genet A
; 164A(11): 2701-6, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123577
12.
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.
J Mol Diagn
; 24(2): 177-188, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074075
13.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
J Mol Diagn
; 24(3): 274-286, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065284
14.
Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes.
J Clin Invest
; 134(8)2024 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38618964
15.
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.
Eur J Hum Genet
; 27(4): 612-620, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626929
16.
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
J Mol Diagn
; 21(1): 38-48, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30577886
17.
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.
Nat Commun
; 6: 8329, 2015 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387913
18.
The Par-PrkC polarity complex is required for cilia growth in zebrafish photoreceptors.
PLoS One
; 9(8): e104661, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25144710
19.
Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes.
J Clin Invest
; 122(4): 1427-43, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426208
20.
Hypoxia-induced angiogenesis: good and evil.
Genes Cancer
; 2(12): 1117-33, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22866203