Works matching AU Quinonez, Shane C

Results: 13

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 8, p. 1, doi. 10.1210/jendso/bvaf091

By:

Chase, Colby L;
Accardo, Marie-Louise;
Greve, Veronica;
Ames, Elizabeth G;
Quinonez, Shane C;
Scott, Anthony;
Hipp, Lauren;
Damon, Jenna;
Uhlmann, Wendy R;
Broome, David T;
Foss-Freitas, Maria C;
Akinci, Baris;
Neidert, Adam H;
Narla, Goutham;
Oral, Elif A;
Lee, Kristen N

Publication type:

Article

Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia.

Published in:

2019

By:

Brooks, Daniel;
Asta, Katharine;
Sturza, Julie;
Kebede, Birhanu;
Bekele, Delayehu;
Nigatu, Balkachew;
Hewison, Jenny;
Quinonez, Shane C.

Publication type:

journal article

Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes.

Published in:

Journal of Genetic Counseling, 2024, v. 33, n. 5, p. 1035, doi. 10.1002/jgc4.1814

By:

Jacobs, Michelle F.;
Koeppe, Erika S.;
Chase, Colby L.;
Martinez, Julia;
Henry, Marie‐Louise;
Osborne, Jenae M.;
Stoffel, Elena M.;
Quinonez, Shane C.

Publication type:

Article

Knowledge and attitudes about genetic counseling in patients at a major hospital in Addis Ababa, Ethiopia.

Published in:

Journal of Genetic Counseling, 2021, v. 30, n. 2, p. 544, doi. 10.1002/jgc4.1340

By:

Jacobs, Michelle F.;
O'Connor, Bridget C.;
Weldetsadik, Abate Yeshidinber;
Tekleab, Atnafu Mekonnen;
Bekele, Delayehu;
Hanson, Erika;
Quinonez, Shane C.

Publication type:

Article

The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2995, doi. 10.1002/ajmg.a.62396

By:

Quinonez, Shane C.;
Terefework, Zewdu

Publication type:

Article

A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 268, doi. 10.1002/ajmg.a.38000

By:

Quinonez, Shane C.;
Gelehrter, Thomas D.;
Uhlmann, Wendy R.

Publication type:

Article

9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1882, doi. 10.1002/ajmg.a.36018

By:

Quinonez, Shane C.;
Park, John M.;
Rabah, Raja;
OwENs, Kailey M.;
Yashar, Beverly M.;
Glover, Thomas W.;
Keegan, Catherine E.

Publication type:

Article

Analysis of De Novo HOXA 13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1019, doi. 10.1002/ajmg.a.35843

By:

Owens, Kailey M.;
Quinonez, Shane C.;
Thomas, Peedikayil E.;
Keegan, Catherine E.;
Lefebvre, Nanci;
Roulston, Diane;
Larsen, Christine A.;
Stadler, H. Scott;
Innis, Jeffrey W.

Publication type:

Article

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2591, doi. 10.1002/ajmg.a.35563

By:

Quinonez, Shane C.;
Hedera, Peter;
Barr, Mason;
Ackley, Todd;
Lam, Cindy;
Purkayastha, Anjali;
Glover, Thomas W.;
Innis, Jeffrey W.

Publication type:

Article

A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia.

Published in:

2021

By:

Deribessa, Solomie Jebessa;
Bisrat, Mekdes Endale;
Terefework, Zewdu;
Quinonez, Shane C.

Publication type:

Case Study

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

Published in:

PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0255278

By:

Quinonez, Shane C.;
O'Connor, Bridget C.;
Jacobs, Michelle F.;
Mekonnen Tekleab, Atnafu;
Marye, Ayalew;
Bekele, Delayehu;
Yashar, Beverly M.;
Hanson, Erika;
Yeshidinber, Abate;
Wedaje, Getahun

Publication type:

Article

Results of the ACTION‐Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

Published in:

Journal of Clinical Pharmacology, 2025, v. 65, n. 5, p. 575, doi. 10.1002/jcph.6170

By:

Bailey, Evan;
Phan, Han;
Ahmad, Ayesha;
Thomas, Janet;
Ames, Elizabeth G.;
Pritchard, Amanda B.;
Quinonez, Shane C.;
Wang, Stella;
Dayley, Caleb;
Salt, Andrew;
Pick, Christina;
Durrant, Abe;
Johnson, Samuel;
Nicodemus‐Johnson, Jessie;
Dickson, Samuel P.;
Perfetti, Riccardo;
Hendrix, Suzanne B.;
Shendelman, Shoshana

Publication type:

Article

ChatGPT and Artificial Intelligence in Graduate Medical Education Program Applications.

Published in:

Journal of Graduate Medical Education, 2024, v. 16, n. 4, p. 391, doi. 10.4300/JGME-D-23-00823.1

By:

Quinonez, Shane C.;
Stewart, David A.;
Banovic, Nikola

Publication type:

Article