Detalhe da pesquisa
1.
Structure of the endosomal Commander complex linked to Ritscher-Schinzel syndrome.
Cell
; 186(10): 2219-2237.e29, 2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37172566
2.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Cell
; 176(6): 1310-1324.e10, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827684
3.
Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome.
Cell
; 178(6): 1421-1436.e24, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491386
4.
Embryogenesis and Adult Life in the Absence of Intrinsic Apoptosis Effectors BAX, BAK, and BOK.
Cell
; 173(5): 1217-1230.e17, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29775594
5.
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
6.
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Genes Dev
; 35(21-22): 1445-1460, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34711653
7.
Regulation of RAF protein kinases in ERK signalling.
Nat Rev Mol Cell Biol
; 16(5): 281-98, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25907612
8.
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
9.
Recapitulating the human segmentation clock with pluripotent stem cells.
Nature
; 580(7801): 124-129, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32238941
10.
Allosteric Activation Dictates PRC2 Activity Independent of Its Recruitment to Chromatin.
Mol Cell
; 70(3): 422-434.e6, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681499
11.
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.
Hum Mol Genet
; 32(13): 2251-2261, 2023 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043208
12.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Hum Mol Genet
; 32(19): 2913-2928, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462524
13.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet
; 32(9): 1429-1438, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440975
14.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Hum Mol Genet
; 32(17): 2681-2692, 2023 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364051
15.
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Annu Rev Genomics Hum Genet
; 23: 301-329, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35655331
16.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
17.
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Hum Genomics
; 18(1): 23, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448978
18.
Telomeres and telomerase: three decades of progress.
Nat Rev Genet
; 20(5): 299-309, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30760854
19.
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Cell
; 142(2): 203-17, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20637498
20.
The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.
Nature
; 574(7777): 249-253, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578523