Detalhe da pesquisa
1.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
2.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
3.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
4.
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Am J Med Genet A
; 185(10): 3057-3061, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043868
5.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035737
6.
Stepwise development of MAIT cells in mouse and human.
PLoS Biol
; 7(3): e54, 2009 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19278296
7.
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Eur J Hum Genet
; 30(3): 291-297, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897289
8.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Eur J Med Genet
; 63(10): 104004, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32688057
9.
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Nat Commun
; 8: 14279, 2017 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28176794
10.
RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair.
Nat Commun
; 7: 10529, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833222
11.
A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.
J Exp Med
; 213(6): 1011-28, 2016 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27185855
12.
Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans.
Mol Cell Biol
; 33(4): 701-11, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23207905