Detalhe da pesquisa
1.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
2.
Time is of the essence: the molecular mechanisms of primary microcephaly.
Genes Dev
; 35(23-24): 1551-1578, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34862179
3.
Dengue virus sero-cross-reactivity drives antibody-dependent enhancement of infection with zika virus.
Nat Immunol
; 17(9): 1102-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27339099
4.
Cerebral organoids in a dish: progress and prospects.
Cell
; 155(1): 19-20, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24074857
5.
Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB.
Mol Cell
; 77(4): 875-886.e7, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836389
6.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118446
7.
Pathophysiology and Mechanisms of Zika Virus Infection in the Nervous System.
Annu Rev Neurosci
; 42: 249-269, 2019 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31283901
8.
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
Cell
; 151(5): 1097-112, 2012 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23178126
9.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
10.
Intoxication of antibiotic persisters by host RNS inactivates their efflux machinery during infection.
PLoS Pathog
; 20(2): e1012033, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421944
11.
25-Hydroxycholesterol Protects Host against Zika Virus Infection and Its Associated Microcephaly in a Mouse Model.
Immunity
; 46(3): 446-456, 2017 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28314593
12.
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
PLoS Genet
; 19(10): e1010972, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812589
13.
Essential requirement for IER3IP1 in B cell development.
Proc Natl Acad Sci U S A
; 120(46): e2312810120, 2023 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37934820
14.
Tubulin mutations in human neurodevelopmental disorders.
Semin Cell Dev Biol
; 137: 87-95, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35915025
15.
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Hum Mol Genet
; 32(15): 2485-2501, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171606
16.
Centrosome defects cause microcephaly by activating the 53BP1-USP28-TP53 mitotic surveillance pathway.
EMBO J
; 40(1): e106118, 2021 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33226141
17.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
18.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet
; 109(10): 1923-1931, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067766
19.
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Am J Hum Genet
; 109(2): 270-281, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063063
20.
Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length.
J Cell Sci
; 136(21)2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823337