Detalhe da pesquisa
1.
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Cell
; 180(3): 568-584.e23, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981491
2.
Discordant calls across genotype discovery approaches elucidate variants with systematic errors.
Genome Res
; 33(6): 999-1005, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253541
3.
Germline cancer susceptibility in individuals with melanoma.
J Am Acad Dermatol
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38513832
4.
Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.
Am J Hum Genet
; 102(5): 760-775, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706349
5.
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Genet Med
; 21(11): 2496-2503, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056551
6.
Public platform with 39,472 exome control samples enables association studies without genotype sharing.
Nat Genet
; 56(2): 327-335, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200129
7.
Whole-exome sequencing reveals an association of rs112065068 in TGOLN2 gene with distant metastasis of non-small cell lung cancer.
Gene
; 920: 148507, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38670394
8.
Homeostatic iron regulatory protein drives glioblastoma growth via tumor cell-intrinsic and sex-specific responses.
Neurooncol Adv
; 6(1): vdad154, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38239626
9.
Detecting biased validation of predictive models in the positive-unlabeled setting: disease gene prioritization case study.
Bioinform Adv
; 3(1): vbad128, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37745001
10.
Gene, cell type, and drug prioritization analysis suggest genetic basis for the utility of diuretics in treating Alzheimer disease.
HGG Adv
; 4(3): 100203, 2023 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37250495
11.
Mendelian Randomization Analysis reveals Inverse Genetic Risks between Skin Cancers and Vitiligo.
JID Innov
; 3(6): 100217, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38034848
12.
CR1 variants contribute to FSGS susceptibility across multiple populations.
medRxiv
; 2023 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38076851
13.
Transgenerational and intergenerational effects of early childhood famine exposure in the cohort of offspring of Leningrad Siege survivors.
Sci Rep
; 13(1): 11188, 2023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433820
14.
Case report: Somatic mutations in microtubule dynamics-associated genes in patients with WNT-medulloblastoma tumors.
Front Oncol
; 12: 1085947, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36713498
15.
Genotype imputation and polygenic score estimation in northwestern Russian population.
PLoS One
; 17(6): e0269434, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35763490
16.
Case Report: Supernormal Vascular Aging in Leningrad Siege Survivors.
Front Cardiovasc Med
; 9: 843439, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35677697
17.
GWAS of depression in 4,520 individuals from the Russian population highlights the role of MAGI2 (S-SCAM) in the gut-brain axis.
Front Genet
; 13: 972196, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36685848
18.
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.
Nat Commun
; 13(1): 3690, 2022 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35760976
19.
Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning.
Eur J Hum Genet
; 29(10): 1527-1535, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276057
20.
Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome.
Nat Aging
; 1(1): 124-141, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796338