Detalhe da pesquisa
1.
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Cell
; 178(4): 850-866.e26, 2019 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31398340
2.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Genet Med
; 25(6): 100833, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013900
3.
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Hum Mol Genet
; 32(3): 353-356, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396997
4.
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Genet Med
; 22(3): 490-499, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607746
5.
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
bioRxiv
; 2023 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798371
6.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Neurol Genet
; 9(5): e200090, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37560121
7.
Brain gene co-expression networks link complement signaling with convergent synaptic pathology in schizophrenia.
Nat Neurosci
; 24(6): 799-809, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958802
8.
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
J Mol Med (Berl)
; 99(11): 1623-1638, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387706