Detalhe da pesquisa
1.
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.
Am J Hum Genet
; 108(4): 597-607, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675682
2.
Familial aggregation of stillbirth: A pedigree analysis of a matched case-control study.
BJOG
; 130(5): 454-462, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161750
3.
Pedigree-based estimation of human mobile element retrotransposition rates.
Genome Res
; 29(10): 1567-1577, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31575651
4.
TypeTE: a tool to genotype mobile element insertions from whole genome resequencing data.
Nucleic Acids Res
; 48(6): e36, 2020 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32067044
5.
Overlooked roles of DNA damage and maternal age in generating human germline mutations.
Proc Natl Acad Sci U S A
; 116(19): 9491-9500, 2019 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019089
6.
Evolutionary history of Tibetans inferred from whole-genome sequencing.
PLoS Genet
; 13(4): e1006675, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28448578
7.
PADRE: Pedigree-Aware Distant-Relationship Estimation.
Am J Hum Genet
; 99(1): 154-62, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374771
8.
Extremely low-coverage whole genome sequencing in South Asians captures population genomics information.
BMC Genomics
; 18(1): 396, 2017 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28532386
9.
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Am J Hum Genet
; 94(4): 599-610, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24702956
10.
Relationship estimation from whole-genome sequence data.
PLoS Genet
; 10(1): e1004144, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24497848
11.
The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.
Mol Biol Evol
; 32(3): 661-73, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25468874
12.
Mobile element biology: new possibilities with high-throughput sequencing.
Trends Genet
; 29(5): 280-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23312846
13.
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Am J Hum Genet
; 93(5): 812-24, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24140114
14.
Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations.
Genome Res
; 23(7): 1170-81, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23599355
15.
Genomic analysis of natural selection and phenotypic variation in high-altitude mongolians.
PLoS Genet
; 9(7): e1003634, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23874230
16.
The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth.
Hum Genet
; 134(7): 803-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25920518
17.
Genetic Ancestry Testing: What Is It and Why Is It Important?
JAMA
; 323(11): 1089-1090, 2020 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32058561
18.
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Nat Genet
; 38(5): 561-5, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16642020
19.
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Am J Hum Genet
; 89(1): 28-43, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21700266
20.
A probabilistic disease-gene finder for personal genomes.
Genome Res
; 21(9): 1529-42, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21700766