Detalhe da pesquisa
1.
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.
Cell
; 167(2): 355-368.e10, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693352
2.
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
Am J Hum Genet
; 111(5): 825-832, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38636509
3.
Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment.
Genet Med
; 25(9): 100895, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194653
4.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med
; 25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718845
5.
Consideration and Disclosure of Group Risks in Genomics and Other Data-Centric Research: Does the Common Rule Need Revision?
Am J Bioeth
; : 1-14, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38010648
6.
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.
N Engl J Med
; 380(15): 1421-1432, 2019 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30970187
7.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Genet Med
; 24(6): 1336-1348, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305867
8.
Identifying Needs, Challenges, and Benefits Among Adults and Parents of Children With Hirschsprung Disease.
J Pediatr Gastroenterol Nutr
; 74(5): e103-e108, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149644
9.
Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care.
Genet Med
; 23(12): 2289-2299, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257423
10.
Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.
Genet Med
; 22(2): 416-422, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31467447
11.
Clinical genome sequencing in an unbiased pediatric cohort.
Genet Med
; 21(2): 303-310, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30008475
12.
High Levels of Interest in Reproductive Genetic Information in Parents of Children and Adults With Hirschsprung Disease.
J Pediatr Gastroenterol Nutr
; 69(3): 299-305, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31107799
13.
Downstream Exclusion in Rural Rare Disease Precision Medicine Research.
Am J Bioeth
; 24(3): 106-108, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38394024
14.
Using the diffusion of innovations model to guide participant engagement in the genomics era.
J Genet Couns
; 28(2): 419-427, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653790
15.
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Hum Mol Genet
; 25(23): 5265-5275, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27702942
16.
Addressing the Burdens That Newborn Screening Imposes on Underserved Communities.
Am J Bioeth
; 23(7): 79-82, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339296
17.
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
J Genet Couns
; 27(1): 263-273, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28932961
18.
Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.
Hum Mol Genet
; 24(10): 2997-3003, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25666438
19.
Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository.
AJOB Empir Bioeth
; 15(1): 33-40, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37487180
20.
Developing a community-led rare disease ELSI research agenda.
Orphanet J Rare Dis
; 19(1): 23, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254122