Detalhe da pesquisa
1.
Advances in profiling chromatin architecture shed light on the regulatory dynamics underlying brain disorders.
Semin Cell Dev Biol
; 121: 153-160, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34483043
2.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
medRxiv
; 2024 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38585811
3.
Cancer immunosurveillance by gut T cells.
Science
; 380(6649): 1011-1012, 2023 06 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37289885
4.
Annotating genetic variants to target genes using H-MAGMA.
Nat Protoc
; 18(1): 22-35, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36289406
5.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
medRxiv
; 2023 Dec 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38234731
6.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Nat Genet
; 55(7): 1149-1163, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37386251
7.
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Eur J Hum Genet
; 29(5): 816-826, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33649541
8.
Recurrent Rare Copy Number Variants Increase Risk for Esotropia.
Invest Ophthalmol Vis Sci
; 61(10): 22, 2020 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32780866