Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
3.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet
; 86(4): 171-180, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141892
4.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732226
5.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113008
6.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176129
7.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277047
8.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
9.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190612
10.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896039
11.
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
Hum Mol Genet
; 24(23): 6603-13, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358774
12.
Cohen syndrome is associated with major glycosylation defects.
Hum Mol Genet
; 23(9): 2391-9, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334764
13.
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Am J Med Genet A
; 170A(1): 116-29, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420639
14.
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
15.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
J Med Genet
; 51(1): 21-7, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24133203
16.
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Am J Med Genet A
; 164A(12): 3027-34, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25258245
17.
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
Am J Med Genet A
; 161A(7): 1594-8, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23704076
18.
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
J Med Genet
; 49(12): 731-6, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23099646
19.
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
J Med Genet
; 49(6): 400-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693284
20.
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Front Cell Dev Biol
; 11: 1021920, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36926521