Search details
1.
Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations.
Cell
; 167(3): 643-656.e17, 2016 Oct 20.
Article
in English
| MEDLINE | ID: mdl-27768888
2.
The Transcription Factor STAT6 Mediates Direct Repression of Inflammatory Enhancers and Limits Activation of Alternatively Polarized Macrophages.
Immunity
; 48(1): 75-90.e6, 2018 01 16.
Article
in English
| MEDLINE | ID: mdl-29343442
3.
Genomic insights into population history and biological adaptation in Oceania.
Nature
; 592(7855): 583-589, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33854233
4.
Multi-ancestry polygenic risk scores for venous thromboembolism.
Hum Mol Genet
; 2024 Jun 16.
Article
in English
| MEDLINE | ID: mdl-38879759
5.
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.
Article
in English
| MEDLINE | ID: mdl-37643212
6.
Measuring the Efficiency of Purging by non-random Mating in Human Populations.
Mol Biol Evol
; 41(6)2024 Jun 01.
Article
in English
| MEDLINE | ID: mdl-38839045
7.
Investigation of common genetic risk factors between thyroid traits and breast cancer.
Hum Mol Genet
; 33(1): 38-47, 2023 Dec 12.
Article
in English
| MEDLINE | ID: mdl-37740403
8.
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.
Article
in English
| MEDLINE | ID: mdl-35858628
9.
Global genome decompaction leads to stochastic activation of gene expression as a first step toward fate commitment in human hematopoietic cells.
PLoS Biol
; 20(10): e3001849, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36288293
10.
DLK1/DIO3 locus upregulation by a ß-catenin-dependent enhancer drives cell proliferation and liver tumorigenesis.
Mol Ther
; 32(4): 1125-1143, 2024 Apr 03.
Article
in English
| MEDLINE | ID: mdl-38311851
11.
A critical spotlight on the paradigms of FFPE-DNA sequencing.
Nucleic Acids Res
; 51(14): 7143-7162, 2023 08 11.
Article
in English
| MEDLINE | ID: mdl-37351572
12.
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
PLoS Genet
; 18(9): e1009923, 2022 09.
Article
in English
| MEDLINE | ID: mdl-36112662
13.
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.
Hum Mol Genet
; 31(3): 399-409, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-34494111
14.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Article
in English
| MEDLINE | ID: mdl-33861953
15.
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain.
PLoS Pathog
; 18(3): e1010375, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35294501
16.
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.
Article
in English
| MEDLINE | ID: mdl-38281098
17.
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
Blood
; 140(2): 140-151, 2022 07 14.
Article
in English
| MEDLINE | ID: mdl-35486842
18.
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Hum Genomics
; 17(1): 45, 2023 06 02.
Article
in English
| MEDLINE | ID: mdl-37269011
19.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Br J Dermatol
; 190(2): 226-243, 2024 Jan 23.
Article
in English
| MEDLINE | ID: mdl-37831592
20.
Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels.
Arterioscler Thromb Vasc Biol
; 43(7): e254-e269, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37128921