Detalhe da pesquisa
1.
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Am J Hum Genet
; 108(9): 1725-1734, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433009
2.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet
; 106(6): 872-884, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470376
3.
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Hum Genet
; 140(10): 1459-1469, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436670
4.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genet Med
; 23(4): 661-668, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420346
5.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain
; 141(8): 2289-2298, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30010796
6.
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
J Med Genet
; 52(2): 123-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25527630
7.
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Nat Commun
; 15(1): 3380, 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643172
8.
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.
Blood Adv
; 7(21): 6520-6531, 2023 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37582288
9.
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Nat Commun
; 14(1): 2034, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041138
10.
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
Nat Commun
; 13(1): 6470, 2022 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36309531
11.
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Neurology
; 96(13): e1770-e1782, 2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568551
12.
A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts.
Stem Cell Res
; 31: 52-54, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30015173
13.
Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations.
Sci Rep
; 8(1): 16552, 2018 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30410084
14.
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Eur J Med Genet
; 61(6): 348-354, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29407415
15.
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Nat Commun
; 14(1): 6301, 2023 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37813867
16.
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
Nat Commun
; 9(1): 475, 2018 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396410
17.
Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells.
Nat Commun
; 9(1): 1114, 2018 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29535311
18.
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
Neurol Genet
; 5(1): e306, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30697592
19.
[Could endogamy explain the higher prevalence of disabilities in the population of the Brazilian Northeast?]. / A endogamia explicaria a elevada prevalência de deficiências em populações do Nordeste brasileiro?
Cien Saude Colet
; 18(4): 1141-50, 2013 Apr.
Artigo
em Português
| MEDLINE | ID: mdl-23670391
20.
Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.
Arq Neuropsiquiatr
; 76(4): 283, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29742247