Detalhe da pesquisa
1.
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Cell
; 177(1): 32-37, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901545
2.
A mechanism for gene-environment interaction in the etiology of congenital scoliosis.
Cell
; 149(2): 295-306, 2012 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22484060
3.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet
; 110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868206
4.
The International Society of Differentiation: Past, present, and future.
Differentiation
; 130: 28-31, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543010
5.
ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data.
BMC Bioinformatics
; 24(1): 49, 2023 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792982
6.
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Am J Hum Genet
; 106(1): 129-136, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883644
7.
NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice.
Proc Natl Acad Sci U S A
; 117(7): 3738-3747, 2020 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015132
8.
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Differentiation
; 128: 1-12, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36194927
9.
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Hum Mol Genet
; 29(7): 1068-1082, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31625560
10.
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Hum Mol Genet
; 29(4): 566-579, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31813956
11.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Hum Mol Genet
; 29(22): 3662-3678, 2020 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276377
12.
Gene-environment interaction impacts on heart development and embryo survival.
Development
; 146(4)2019 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30787001
13.
Insights into the genetic architecture underlying complex, critical congenital heart disease.
Am Heart J
; 254: 166-171, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36115390
14.
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes.
Am Heart J
; 244: 1-13, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34670123
15.
CITED2 inhibits STAT1-IRF1 signaling and atherogenesis.
FASEB J
; 35(9): e21833, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34365659
16.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942433
17.
Simultaneous quantification of 26 NAD-related metabolites in plasma, blood, and liver tissue using UHPLC-MS/MS.
Anal Biochem
; 633: 114409, 2021 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34648806
18.
CITED2 limits pathogenic inflammatory gene programs in myeloid cells.
FASEB J
; 34(9): 12100-12113, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32697413
19.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
20.
The pro-death role of Cited2 in stroke is regulated by E2F1/4 transcription factors.
J Biol Chem
; 294(21): 8617-8629, 2019 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30967472