Detalhe da pesquisa
1.
Unraveling the role of non-coding rare variants in epilepsy.
PLoS One;
18(9): e0291935, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756314
2.
Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.
eNeuro;
10(5)2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072176
3.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
J Med Genet;
60(3): 294-300, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790350
4.
Assessment of burden and segregation profiles of CNVs in patients with epilepsy.
Ann Clin Transl Neurol;
9(7): 1050-1058, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678011
5.
The role of common genetic variation in presumed monogenic epilepsies.
EBioMedicine;
81: 104098, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35679801
6.
Sensory processing dysregulations as reliable translational biomarkers in SYNGAP1 haploinsufficiency.
Brain;
145(2): 754-769, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791091
7.
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Hum Genet;
141(2): 257-272, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34907471
8.
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
9.
Ectopic expression of Irx3 and Irx5 in the paraventricular nucleus of the hypothalamus contributes to defects in Sim1 haploinsufficiency.
Sci Adv;
7(44): eabh4503, 2021 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34705510
10.
Differential auditory brain response abnormalities in two intellectual disability conditions: SYNGAP1 mutations and Down syndrome.
Clin Neurophysiol;
132(8): 1802-1812, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34130248
11.
Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1.
Brain Res;
1751: 147205, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33189692
12.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia;
62(1): e13-e21, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280099
15.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nat Rev Genet;
21(6): 367-376, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317787
16.
Polygenic risk scores of several subtypes of epilepsies in a founder population.
Neurol Genet;
6(3): e416, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337343
17.
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Eur J Hum Genet;
28(4): 461-468, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31695177
18.
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Hum Genet;
138(11-12): 1301-1311, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686214
19.
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Genet Med;
21(11): 2521-2531, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31092906
20.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med;
21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421