OpenURL Connection Search

Select item for more details and to access through your institution.

Developing a community-led rare disease ELSI research agenda.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-02986-x
By:
- Berrios, Courtney;
- McBeth, Macy;
- Bradley-Ewing, Andrea;
- Schuetz, Nikolaus;
- Campbell, Annette;
- Talebizadeh, Zohreh;
- Garrett, Jeremy R.;
- Falicov, Tamara;
- Martinez, Francisco;
- Rare Voices Advisory Group;
- Adams, Jensen;
- Akpan, Jewel;
- Baesel-Freund, Kelly L.;
- Biyala, Urvi;
- Cramer, Emily;
- Freeman, Kimberly;
- Gallagher, Terrence;
- Jarrar, Ada;
- Jones, Linda Vaughn;
- Lewis, Tamorah
Publication type:
Article
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1174-6
By:
- Hongsheng Gui;
- Schriemer, Duco;
- Cheng, William W.;
- Chauhan, Rajendra K.;
- Antiňolo, Guillermo;
- Berrios, Courtney;
- Bleda, Marta;
- Brooks, Alice S.;
- Brouwer, Rutger W. W.;
- Burns, Alan J.;
- Cherny, Stacey S.;
- Dopazo, Joaquin;
- Eggen, Bart J. L.;
- Griseri, Paola;
- Jalloh, Binta;
- Thuy-Linh Le;
- Lui, Vincent C. H.;
- Luzón-Toro, Berta;
- Matera, Ivana;
- Ngan, Elly S. W.
Publication type:
Article
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 23, p. 5265, doi. 10.1093/hmg/ddw333
By:
- Sze-man Tang, Clara;
- Hongsheng Gui;
- Kapoor, Ashish;
- Jeong-Hyun Kim;
- Luzón-Toro, Berta;
- Pelet, Anna;
- Burzynski, Grzegorz;
- Lantieri, Francesca;
- Man-ting So;
- Berrios, Courtney;
- Hyoung Doo Shin;
- Fernandez, Raquel M.;
- Thuy-Linh Le;
- Verheij, Joke B. G. M.;
- Matera, Ivana;
- Cherny, Stacey S.;
- Nandakumar, Priyanka;
- Hyun Sub Cheong;
- Antiñolo, Guillermo;
- Amiel, Jeanne
Publication type:
Article
Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 10, p. 2997, doi. 10.1093/hmg/ddv051
By:
- Kapoor, Ashish;
- Qian Jiang;
- Chatterjee, Sumantra;
- Chakraborty, Prakash;
- Sosa, Maria X.;
- Berrios, Courtney;
- Chakravarti, Aravinda
Publication type:
Article
Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease.
Published in:
PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021219
By:
- Jiang, Qian;
- Ho, Yen-Yi;
- Hao, Li;
- Berrios, Courtney Nichols;
- Chakravarti, Aravinda
Publication type:
Article
Using the diffusion of innovations model to guide participant engagement in the genomics era.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 419, doi. 10.1002/jgc4.1090
By:
- Lewis, Katie L.;
- Facio, Flavia M.;
- Berrios, Courtney D.
Publication type:
Article
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
Published in:
Journal of Genetic Counseling, 2018, v. 27, n. 1, p. 263, doi. 10.1007/s10897-017-0143-2
By:
- Berrios, Courtney;
- James, Cynthia A.;
- Raraigh, Karen;
- Bollinger, Juli;
- Murray, Brittney;
- Tichnell, Crystal;
- Applegate, Carolyn D.;
- Bergner, Amanda L.
Publication type:
Article
Identifying Needs, Challenges, and Benefits Among Adults and Parents of Children With Hirschsprung Disease.
Published in:
2022
By:
- Berrios, Courtney;
- Bollinger, Juli;
- Yan, Jia;
- Biesecker, Barbara;
- Chakravarti, Aravinda
Publication type:
journal article
High Levels of Interest in Reproductive Genetic Information in Parents of Children and Adults With Hirschsprung Disease.
Published in:
2019
By:
- Berrios, Courtney D.;
- Chakravarti, Aravinda;
- Biesecker, Barbara B.
Publication type:
journal article
Studying Vulnerable Populations Through an Epigenetics Lens: Proceed with Caution.
Published in:
Canadian Journal of Bioethics / Revue canadienne de bioéthique, 2022, v. 5, n. 1, p. 68, doi. 10.7202/1087205ar
By:
- Saulnier, Katie;
- Berner, Alison;
- Liosi, Stamatina;
- Earp, Brian;
- Berrios, Courtney;
- Dyke, Stephanie O. M.;
- Dupras, Charles;
- Joly, Yann
Publication type:
Article

Found: 10