Detalhe da pesquisa
1.
Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations.
Cell
; 167(3): 643-656.e17, 2016 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27768888
2.
Genomic insights into population history and biological adaptation in Oceania.
Nature
; 592(7855): 583-589, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33854233
3.
Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes.
Proc Natl Acad Sci U S A
; 120(36): e2302720120, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643212
4.
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Am J Hum Genet
; 109(8): 1549-1558, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35858628
5.
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.
Hum Mol Genet
; 31(3): 399-409, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34494111
6.
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain.
PLoS Pathog
; 18(3): e1010375, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294501
7.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genet Med
; 26(5): 101082, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38281098
8.
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.
Circulation
; 146(16): 1225-1242, 2022 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36154123
9.
Sexual dimorphism in cancer: insights from transcriptional signatures in kidney tissue and renal cell carcinoma.
Hum Mol Genet
; 30(5): 343-355, 2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33527138
10.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet
; 142(6): 773-783, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076692
11.
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Nat Immunol
; 12(3): 213-21, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21278736
12.
Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation.
Blood
; 137(17): 2394-2402, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512453
13.
Co-Transplantation of Barcoded Lymphoid-Primed Multipotent (LMPP) and Common Lymphocyte (CLP) Progenitors Reveals a Major Contribution of LMPP to the Lymphoid Lineage.
Int J Mol Sci
; 24(5)2023 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901798
14.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Int J Mol Sci
; 24(10)2023 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240074
15.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Hum Mutat
; 43(12): 1882-1897, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842780
16.
Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing data.
Genet Epidemiol
; 45(5): 537-548, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998042
17.
Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul.
Mol Biol Evol
; 38(11): 5107-5121, 2021 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34383935
18.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422817
19.
Family-based genome-wide association study of leprosy in Vietnam.
PLoS Pathog
; 16(5): e1008565, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32421744
20.
Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers.
Acta Neuropathol
; 144(5): 821-842, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066633