Detalhe da pesquisa
1.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet
; 60(11): 1127-1132, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055165
2.
GJB2 c.35del variant up-regulates GJA1 gene expression and affects differentiation of human stem cells.
Genet Mol Biol
; 47(2): e20230170, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38626573
3.
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila.
Mol Psychiatry
; 27(8): 3328-3342, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35501408
4.
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Am J Med Genet A
; 191(10): 2508-2517, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353954
5.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392087
6.
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
J Med Genet
; 59(9): 895-905, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750192
7.
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
J Med Genet
; 59(2): 165-169, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436522
8.
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Am J Hum Genet
; 104(5): 925-935, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982609
9.
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Clin Genet
; 101(1): 134-141, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664255
10.
The oldest unvaccinated Covid-19 survivors in South America.
Immun Ageing
; 19(1): 57, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384671
11.
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.
Am J Med Genet C Semin Med Genet
; 187(3): 357-363, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34189818
12.
Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes.
Int J Obes (Lond)
; 45(5): 1017-1029, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33633342
13.
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
Clin Genet
; 100(5): 615-623, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341987
14.
Complement C4 Is Reduced in iPSC-Derived Astrocytes of Autism Spectrum Disorder Subjects.
Int J Mol Sci
; 22(14)2021 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299197
15.
Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes.
Genet Mol Biol
; 44(1 Suppl 1): e20200302, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33651876
16.
Structural variation of the malaria-associated human glycophorin A-B-E region.
BMC Genomics
; 21(1): 446, 2020 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32600246
17.
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Am J Med Genet C Semin Med Genet
; 184(4): 896-911, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128510
18.
EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
Hum Mol Genet
; 26(12): 2177-2191, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334780
19.
Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.
Hum Mutat
; 39(10): 1372-1383, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969175
20.
Development of a comprehensive noninvasive prenatal test.
Genet Mol Biol
; 41(3): 545-554, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043834