Detalhe da pesquisa
1.
Spatial control of nucleoporin condensation by fragile X-related proteins.
EMBO J
; 39(20): e104467, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706158
2.
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Am J Hum Genet
; 108(5): 764-785, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811808
3.
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Mol Psychiatry
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38030819
4.
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
Am J Med Genet B Neuropsychiatr Genet
; : e32971, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421120
5.
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet
; 106(4): 438-452, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197073
6.
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndrome.
Am J Med Genet A
; 191(9): 2346-2355, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37350176
7.
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.
J Neural Transm (Vienna)
; 130(3): 459-471, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436153
8.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
9.
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.
Clin Genet
; 102(4): 296-304, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821609
10.
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA.
BMC Psychiatry
; 22(1): 572, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008773
11.
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
12.
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Hum Mol Genet
; 28(6): 952-960, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476144
13.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169370
14.
Sex-specific impact of prenatal androgens on social brain default mode subsystems.
Mol Psychiatry
; 25(9): 2175-2188, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30104728
15.
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Am J Hum Genet
; 100(1): 105-116, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939639
16.
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Proc Natl Acad Sci U S A
; 114(44): E9308-E9317, 2017 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29078390
17.
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Hum Mutat
; 40(11): 2021-2032, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31184401
18.
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.
Proc Natl Acad Sci U S A
; 113(26): E3619-28, 2016 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27233938
19.
Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders.
J Med Syst
; 42(1): 1, 2017 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159559
20.
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Am J Hum Genet
; 93(2): 368-83, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23871722