Detalhe da pesquisa
1.
ACES: Analysis of Conservation with an Extensive list of Species.
Bioinformatics
; 37(21): 3920-3922, 2021 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34601580
2.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Hum Genomics
; 15(1): 44, 2021 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34256850
3.
Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing.
Am J Med Genet A
; 188(7): 2071-2081, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35366058
4.
Proteome-Wide Assessment of Clustering of Missense Variants in Neurodevelopmental Disorders Versus Cancer.
medRxiv
; 2024 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352539
5.
Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome.
Ann Clin Transl Neurol
; 10(5): 787-801, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000947