Detalhe da pesquisa
1.
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program.
Am J Hum Genet
; 109(5): 857-870, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385699
2.
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Am J Med Genet A
; 191(6): 1546-1556, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36942736
3.
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.
JAMA Netw Open
; 7(3): e244170, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546643
4.
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Nat Commun
; 14(1): 6113, 2023 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37777527
5.
Accounting for population structure in genetic studies of cystic fibrosis.
HGG Adv
; 3(3): 100117, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35647563
6.
Genome Sequencing in the Parkinson Disease Clinic.
Neurol Genet
; 8(4): e200002, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35747619
7.
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.
J Natl Cancer Inst
; 113(7): 875-883, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372952
8.
Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.
Nat Commun
; 11(1): 5182, 2020 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057025
9.
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.
Obesity (Silver Spring)
; 25(7): 1270-1276, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28508493
10.
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.
Cold Spring Harb Mol Case Stud
; 2(2): a000703, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148584
11.
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.
PLoS One
; 9(10): e110740, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25360671