Detalhe da pesquisa
1.
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Genet Med
; 25(4): 100003, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549593
2.
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.
Clin Genet
; 101(2): 265-266, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34786696
3.
The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.
Prenat Diagn
; 42(6): 717-724, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032046
4.
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Genet Med
; 23(1): 215-221, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32801363
5.
The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting.
Prenat Diagn
; 41(6): 701-707, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33686681
6.
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.
Eur J Med Genet
; 64(2): 104124, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33359164