Detalhe da pesquisa
1.
Prolonged sleep deprivation induces a cytokine-storm-like syndrome in mammals.
Cell
; 186(25): 5500-5516.e21, 2023 12 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38016470
2.
The Long Road to Understanding RNAPII Transcription Initiation and Related Syndromes.
Annu Rev Biochem
; 90: 193-219, 2021 06 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34153211
3.
Flaviviruses Hit a Moving Target.
Cell
; 175(5): 1175-1176, 2018 11 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30445035
4.
Intestinal Dysmotility Syndromes following Systemic Infection by Flaviviruses.
Cell
; 175(5): 1198-1212.e12, 2018 11 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30293866
5.
Immunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination.
Immunity
; 55(9): 1732-1746.e5, 2022 09 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35961317
6.
The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.
Cell
; 166(5): 1215-1230.e20, 2016 Aug 25.
Artigo
Inglês
| MEDLINE | ID: mdl-27523608
7.
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Cell
; 167(1): 187-202.e17, 2016 Sep 22.
Artigo
Inglês
| MEDLINE | ID: mdl-27662089
8.
RASopathy mutations provide functional insight into the BRAF cysteine-rich domain and reveal the importance of autoinhibition in BRAF regulation.
Mol Cell
; 82(22): 4262-4276.e5, 2022 11 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36347258
9.
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
Mol Cell
; 82(1): 90-105.e13, 2022 01 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34942119
10.
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Nat Immunol
; 18(7): 813-823, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28530713
11.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36755093
12.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Genes Dev
; 34(21-22): 1520-1533, 2020 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33060134
13.
Functional genomics in inborn errors of immunity.
Immunol Rev
; 322(1): 53-70, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38329267
14.
An interactive atlas of three-dimensional syndromic facial morphology.
Am J Hum Genet
; 111(1): 39-47, 2024 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38181734
15.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Am J Hum Genet
; 110(8): 1377-1393, 2023 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37451268
16.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37963460
17.
Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
N Engl J Med
; 388(26): 2422-2433, 2023 Jun 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37140166
18.
Modeling human disease in humans: the ciliopathies.
Cell
; 147(1): 70-9, 2011 Sep 30.
Artigo
Inglês
| MEDLINE | ID: mdl-21962508
19.
Overgrowth syndromes and pediatric cancers: how many roads lead to IGF2?
Genes Dev
; 32(15-16): 993-995, 2018 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30068702
20.
Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.
Hum Mol Genet
; 32(21): 3090-3104, 2023 10 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37555648