Detalhe da pesquisa
1.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Am J Hum Genet
; 110(12): 2103-2111, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924809
2.
Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.
Hum Mol Genet
; 31(14): 2348-2357, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147171
3.
Host genetic effects in pneumonia.
Am J Hum Genet
; 108(1): 194-201, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33357513
4.
XPAT: a toolkit to conduct cross-platform association studies with heterogeneous sequencing datasets.
Nucleic Acids Res
; 46(6): e32, 2018 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294048
5.
Early history of Neanderthals and Denisovans.
Proc Natl Acad Sci U S A
; 114(37): 9859-9863, 2017 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28784789
6.
Bias in estimators of archaic admixture.
Theor Popul Biol
; 100C: 63-78, 2015 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25575941
7.
Reply to Mafessoni and Prüfer: Inferences with and without singleton site patterns.
Proc Natl Acad Sci U S A
; 114(48): E10258-E10260, 2017 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29138325
8.
Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.
Sci Adv
; 10(6): eadj5661, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335297
9.
A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
HGG Adv
; 3(1): 100078, 2022 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047863
10.
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon.
Elife
; 72018 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014848