Detalhe da pesquisa
1.
Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study.
Gastroenterology
; 160(5): 1620-1633.e13, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33310085
2.
Feedback regulation of RTK signaling in development.
Dev Biol
; 447(1): 71-89, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29079424
3.
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type.
Hum Mol Genet
; 27(15): 2628-2643, 2018 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29750247
4.
Cell fate specification in the lingual epithelium is controlled by antagonistic activities of Sonic hedgehog and retinoic acid.
PLoS Genet
; 13(7): e1006914, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28715412
5.
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.
Hum Mol Genet
; 26(17): 3253-3270, 2017 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28595297
6.
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
PLoS Genet
; 12(7): e1006187, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27448281
7.
Sonic Hedgehog Signaling Is Required for Cyp26 Expression during Embryonic Development.
Int J Mol Sci
; 20(9)2019 May 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31072004
8.
Modeling craniofacial and skeletal congenital birth defects to advance therapies.
Hum Mol Genet
; 25(R2): R86-R93, 2016 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27346519
9.
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.
Hum Mol Genet
; 23(21): 5659-71, 2014 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24908667
10.
CNPY4 inhibits the Hedgehog pathway by modulating membrane sterol lipids.
Nat Commun
; 13(1): 2407, 2022 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35504891
11.
Clinical Implementation of Combined Monogenic and Polygenic Risk Disclosure for Coronary Artery Disease.
JACC Adv
; 1(3)2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-36147540
12.
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.
Genome Med
; 14(1): 34, 2022 03 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35346344
13.
Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets.
Database (Oxford)
; 20202020 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33181822
14.
Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry.
J Clin Lipidol
; 14(2): 218-223.e2, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32143996
15.
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Nat Commun
; 11(1): 3635, 2020 08 20.
Artigo
Inglês
| MEDLINE | ID: mdl-32820175
16.
Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening.
Cancer Med
; 9(11): 4004-4013, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32255556
17.
Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.
Genome Med
; 11(1): 74, 2019 11 26.
Artigo
Inglês
| MEDLINE | ID: mdl-31771638
18.
A scalable, aggregated genotypic-phenotypic database for human disease variation.
Database (Oxford)
; 20192019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30759220
19.
Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
J Mol Diagn
; 21(4): 646-657, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31201024
20.
Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.
NPJ Genom Med
; 3: 35, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30588330