Detalhe da pesquisa
1.
Statistical Detection of Relatives Typed with Disjoint Forensic and Biomedical Loci.
Cell
; 175(3): 848-858.e6, 2018 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30318150
2.
Decoding the Spermatogenesis Program: New Insights from Transcriptomic Analyses.
Annu Rev Genet
; 56: 339-368, 2022 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070560
3.
Landscape of Intercellular Crosstalk in Healthy and NASH Liver Revealed by Single-Cell Secretome Gene Analysis.
Mol Cell
; 75(3): 644-660.e5, 2019 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31398325
4.
Molecular genetic evaluation of pediatric renovascular hypertension due to renal artery stenosis and abdominal aortic coarctation in neurofibromatosis type 1.
Hum Mol Genet
; 31(3): 334-346, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476477
5.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270938
6.
Presence of ovarian stromal aberrations after cessation of testosterone therapy in a transgender mouse model.
Biol Reprod
; 108(5): 802-813, 2023 05 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36790125
7.
Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.
Blood
; 136(5): 533-541, 2020 07 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32457982
8.
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Mol Psychiatry
; 26(9): 5239-5250, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483695
9.
Impact of between-tissue differences on pan-cancer predictions of drug sensitivity.
PLoS Comput Biol
; 17(2): e1008720, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33630864
10.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
PLoS Genet
; 15(5): e1008130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048900
11.
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Arterioscler Thromb Vasc Biol
; 40(11): 2686-2699, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32938213
12.
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
Circulation
; 139(5): 620-635, 2019 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586737
13.
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
Am J Hum Genet
; 100(1): 51-63, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017375
14.
Linkage disequilibrium matches forensic genetic records to disjoint genomic marker sets.
Proc Natl Acad Sci U S A
; 114(22): 5671-5676, 2017 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28507140
15.
Sensitized mutagenesis screen in Factor V Leiden mice identifies thrombosis suppressor loci.
Proc Natl Acad Sci U S A
; 114(36): 9659-9664, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28827327
16.
Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia.
Br J Haematol
; 186(4): 574-579, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119735
17.
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Ann Neurol
; 83(6): 1075-1088, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604224
18.
Helmsman: fast and efficient mutation signature analysis for massive sequencing datasets.
BMC Genomics
; 19(1): 845, 2018 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30486787
19.
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum Genet
; 137(11-12): 921-939, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450527
20.
Fibroblast growth factor 9 is a novel modulator of negative affect.
Proc Natl Acad Sci U S A
; 112(38): 11953-8, 2015 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26351673