Detalhe da pesquisa
1.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
2.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
; 146(7): 2869-2884, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624280
3.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med
; 25(11): 100922, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403762
4.
Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects.
Mol Psychiatry
; 27(4): 2068-2079, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177825
5.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986737
6.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 25(10): 100961, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37650884
7.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196618
8.
Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function.
Bioinform Adv
; 1(1): vbab026, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34870209
9.
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Sci Rep
; 10(1): 13763, 2020 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792680