Detalhe da pesquisa
1.
Functional interrogation of DNA damage response variants with base editing screens.
Cell
; 184(4): 1081-1097.e19, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606978
2.
Tissue adaptation and clonal segregation of human memory T cells in barrier sites.
Nat Immunol
; 24(2): 309-319, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658238
3.
Tissue Determinants of Human NK Cell Development, Function, and Residence.
Cell
; 180(4): 749-763.e13, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32059780
4.
Site-specific development and progressive maturation of human tissue-resident memory T cells over infancy and childhood.
Immunity
; 56(8): 1894-1909.e5, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37421943
5.
Lineage specification of human dendritic cells is marked by IRF8 expression in hematopoietic stem cells and multipotent progenitors.
Nat Immunol
; 18(8): 877-888, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28650480
6.
Spatial map of human T cell compartmentalization and maintenance over decades of life.
Cell
; 159(4): 814-28, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25417158
7.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Am J Hum Genet
; 110(10): 1787-1803, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751738
8.
Thalidomide for Recurrent Bleeding Due to Small-Intestinal Angiodysplasia.
N Engl J Med
; 389(18): 1649-1659, 2023 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37913505
9.
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
Am J Hum Genet
; 109(5): 961-966, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35397206
10.
The genetic architecture of pediatric cardiomyopathy.
Am J Hum Genet
; 109(2): 282-298, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35026164
11.
SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants.
Brief Bioinform
; 24(1)2023 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36575831
12.
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Am J Hum Genet
; 108(10): 1964-1980, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547244
13.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; : 101125, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522068
14.
Erratum: Lineage specification of human dendritic cells is marked by IRF8 expression in hematopoietic stem cells and multipotent progenitors.
Nat Immunol
; 18(10): 1173, 2017 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28926533
15.
Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.
Nucleic Acids Res
; 50(21): e123, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36124672
16.
Genomic Disorders in CKD across the Lifespan.
J Am Soc Nephrol
; 34(4): 607-618, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302597
17.
[Advantage analysis of modified day surgery procedure for concealed penis].
Zhonghua Nan Ke Xue
; 29(8): 716-720, 2023 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-38619518
18.
Developmental basis of trachea-esophageal birth defects.
Dev Biol
; 477: 85-97, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34023332
19.
A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth.
J Biol Chem
; 296: 100313, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33482199
20.
Newborn screening for neurodevelopmental diseases: Are we there yet?
Am J Med Genet C Semin Med Genet
; 190(2): 222-230, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35838066