Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med
; 26(3): 101050, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38126281
3.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet
; 105(6): 655-660, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384171
4.
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Genet Med
; 25(8): 100871, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37120726
5.
Evaluation of TUBB8 gene alterations in infertile women with oocyte maturation and cleavage arrest referred to Royan Institute.
Reprod Biomed Online
; 47(4): 103226, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37597348
6.
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
Int J Mol Sci
; 24(18)2023 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762546
7.
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
8.
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
9.
DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.
Int J Mol Sci
; 23(14)2022 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887210
10.
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Int J Mol Sci
; 23(14)2022 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887345
11.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
Int J Mol Sci
; 23(22)2022 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430143
12.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Int J Mol Sci
; 22(16)2021 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445317
13.
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Eur J Hum Genet
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351292
14.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
HGG Adv
; : 100309, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38751117
15.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
HGG Adv
; 5(3): 100289, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38571311
16.
DNA methylation episignatures: insight into copy number variation.
Epigenomics
; 14(21): 1373-1388, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537268
17.
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
18.
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Front Genet
; 12: 698595, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34326862
19.
The Emergency Radiology Dashboard: Facilitating Workflow With Realtime Data.
Curr Probl Diagn Radiol
; 49(4): 231-233, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376121
20.
Therapeutic efficacy of tulathromycin, a novel triamilide antimicrobial, against bovine respiratory disease in feeder calves.
Vet Ther
; 6(2): 143-53, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16094562