Detalhe da pesquisa
1.
What Causes Premature Coronary Artery Disease?
Curr Atheroscler Rep
; 26(6): 189-203, 2024 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573470
2.
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Clin Genet
; 102(6): 524-529, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916082
3.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genet Med
; 22(12): 2041-2051, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32753734
4.
Biomarkers of agitation and aggression in Alzheimer's disease: A systematic review.
Alzheimers Dement
; 14(10): 1344-1376, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940162
5.
Genetic Determinants of Vascular Dementia.
Can J Cardiol
; 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579965
6.
The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.
Genes (Basel)
; 15(3)2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540392
7.
A method to estimate the contribution of rare coding variants to complex trait heritability.
Nat Commun
; 15(1): 1245, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336875
8.
A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets.
Nat Commun
; 14(1): 5196, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37626057
9.
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
Ophthalmic Genet
; 41(5): 457-464, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32689861
10.
COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.
Sci Rep
; 10(1): 21269, 2020 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277529
11.
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Invest Ophthalmol Vis Sci
; 61(10): 36, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32881472
12.
CDC42 regulates the expression of superficial zone molecules in part through the actin cytoskeleton and myocardin-related transcription factor-A.
J Orthop Res
; 36(9): 2421-2430, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29537109