Detalhe da pesquisa
1.
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Am J Hum Genet
; 111(3): 509-528, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412861
2.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Am J Hum Genet
; 109(11): 2049-2067, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283406
3.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243009
4.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Genome Res
; 32(7): 1242-1253, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710300
5.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
6.
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.
Hum Mol Genet
; 28(5): 818-827, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445463
7.
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders.
Genet Med
; 23(1): 34-46, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32973355
8.
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Clin Genet
; 99(3): 449-456, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340101
9.
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Clin Genet
; 99(2): 259-268, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131045
10.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Am J Hum Genet
; 99(2): 470-80, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486781
11.
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Genet Med
; 21(4): 1021-1026, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293988
12.
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics.
Hum Mol Genet
; 29(5): 879-880, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031622
13.
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
Am J Hum Genet
; 94(5): 649-61, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726472
14.
New insights into the phenotype of FARS2 deficiency.
Mol Genet Metab
; 122(4): 172-181, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126765
15.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332918
16.
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
Prenat Diagn
; 36(8): 699-707, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27176606
17.
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
Hum Mutat
; 36(2): 222-31, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25385316
18.
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Genet Med
; 17(6): 460-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232846
19.
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.
Genome Biol
; 25(1): 123, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760655
20.
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.
Nat Commun
; 15(1): 136, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167838