Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787418
3.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054406
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.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Am J Med Genet A
; 191(7): 1722-1740, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987741
6.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am J Med Genet A
; 185(6): 1712-1720, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675273
7.
Use of Antidepressants and Risk of Incident Stroke: A Systematic Review and Meta-Analysis.
Neuroepidemiology
; 53(3-4): 142-151, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216542
8.
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Eur J Hum Genet
; 32(6): 619-629, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351292
9.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
HGG Adv
; 5(3): 100309, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38751117
10.
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
11.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Eur J Hum Genet
; 31(11): 1228-1236, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879111
12.
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.
Brain Sci
; 10(11)2020 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33126574
13.
Missense variant contribution to USP9X-female syndrome.
NPJ Genom Med
; 5(1): 53, 2020 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33298948
14.
Impact of preventable risk factors on stroke in the EPICOR study: does gender matter?
Int J Public Health
; 62(7): 775-786, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28643029