Detalhe da pesquisa
1.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Am J Hum Genet
; 111(3): 509-528, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412861
2.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904121
3.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35341651
4.
Single-Cell Chromatin Accessibility Data Combined with GWAS Improves Detection of Relevant Cell Types in 59 Complex Phenotypes.
Int J Mol Sci
; 23(19)2022 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232752
5.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163737
6.
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.
Eur J Hum Genet
; 31(8): 879-886, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797465
7.
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Front Oncol
; 13: 1208244, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37483495
8.
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.
medRxiv
; 2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292950
9.
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Curr Oncol
; 29(10): 7209-7217, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36290845
10.
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Eur J Hum Genet
; 30(4): 420-427, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34992252
11.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG Adv
; 3(1): 100075, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047860
12.
Exploring Biological Impacts of Prenatal Nutrition and Selection for Residual Feed Intake on Beef Cattle Using Omics Technologies: A Review.
Front Genet
; 12: 720268, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34790219
13.
Could gene therapy cure HIV?
Life Sci
; 277: 119451, 2021 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811896
14.
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Clin Epigenetics
; 13(1): 157, 2021 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34380541
15.
Serum Metabolite Biomarkers for Predicting Residual Feed Intake (RFI) of Young Angus Bulls.
Metabolites
; 10(12)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266049
16.
The Bovine Metabolome.
Metabolites
; 10(6)2020 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32517015
17.
Protocols for NMR Analysis in Livestock Metabolomics.
Methods Mol Biol
; 1996: 311-324, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127564
18.
Chemical Composition of Commercial Cow's Milk.
J Agric Food Chem
; 67(17): 4897-4914, 2019 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30994344
19.
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Eur J Hum Genet
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040915