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

Volltext

Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing von Ziats, Mark N., Ahmad, Ayesha, Bernat, John A., Fisher, Rachel, Glassford, Megan, Hannibal, Mark C., Jacher, Joseph E., Weiser, Natasha, Keegan, Catherine E., Lee, Kristen N., Marzulla, Tessa B., O’Connor, Bridget C., Quinonez, Shane C., Seemann, Lauren, Turner, Lauren, Bielas, Stephanie, Harris, Nicholas L., Ogle, Jacob D., Innis, Jeffrey W., Martin, Donna M.

Volltext

Human HOX gene disorders von Quinonez, Shane C., Innis, Jeffrey W.

Volltext

A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia von Deribessa, Solomie Jebessa, Bisrat, Mekdes Endale, Terefework, Zewdu, Quinonez, Shane C.

Volltext

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation von Lee, Kristen N., Uhlmann, Wendy, Hipp, Lauren, Quinonez, Shane C.

Volltext

Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency von Quinonez, Shane C., MD, Leber, Steven M., MD, Martin, Donna M., MD, PhD, Thoene, Jess G., MD, Bedoyan, Jirair K., MD, PhD

Volltext

The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned von Quinonez, Shane C., Terefework, Zewdu

Volltext

Rare disease therapeutics: The future of medical genetics in a changing landscape von Connolly, Christopher D., Quinonez, Shane C., Ames, Elizabeth G.

Volltext

Trainee perspectives of COVID-19 impact on medical genetics education von Pritchard, Amanda Barone, Sloan-Heggen, Christina, Keegan, Catherine E., Quinonez, Shane C.

Volltext

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis von Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine

Volltext

ChatGPT and Artificial Intelligence in Graduate Medical Education Program Applications von Quinonez, Shane C, Stewart, David A, Banovic, Nikola

Volltext

Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia von Brooks, Daniel, Asta, Katharine, Sturza, Julie, Kebede, Birhanu, Bekele, Delayehu, Nigatu, Balkachew, Hewison, Jenny, Quinonez, Shane C.

Volltext

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

Volltext

DNA LIGASE IV SYNDROME: A RARE CAUSE OF GROWTH FAILURE & HYPOGONADISM von Iyengar, Jennifer J, Quinonez, Shane C, Razumilava, Nataliya, Soyster, Barbara, Smith, Yolanda R, Vander Lugt, Mark T, Wyckoff, Jennifer

Volltext

Introducing medical genetics services in Ethiopia using the MiGene Family History App von Quinonez, Shane C., Yeshidinber, Abate, Lourie, Michael A., Bekele, Delayehu, Mekonnen, Yemisrach, Nigatu, Balkachew, Metaferia, Gesit, Jebessa, Solomie

Volltext

Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes von Jacobs, Michelle F., Koeppe, Erika S., Chase, Colby L., Martinez, Julia, Henry, Marie‐Louise, Osborne, Jenae M., Stoffel, Elena M., Quinonez, Shane C.

Volltext

Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant von Dang, Louis T., Quinonez, Shane C., Becka, Bridget R., Isom, Lori L., Joshi, Sucheta M.

Volltext

Knowledge and attitudes about genetic counseling in patients at a major hospital in Addis Ababa, Ethiopia von Jacobs, Michelle F., O'Connor, Bridget C., Weldetsadik, Abate Yeshidinber, Tekleab, Atnafu Mekonnen, Bekele, Delayehu, Hanson, Erika, Quinonez, Shane C.

Volltext

Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte von Quinonez, Shane C, Seeley, Andrea H, Seeterlin, Mary, Stanley, Eleanor, Ahmad, Ayesha

Volltext

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome von Steele, Jacqueline L., Morrow, Michelle M., Sarnat, Harvey B., Alkhunaizi, Ebba, Brandt, Tracy, Chitayat, David A., DeFilippo, Colette P., Douglas, Ganka V., Dubbs, Holly A., Elloumi, Houda Zghal, Glassford, Megan R., Hannibal, Mark C., Héron, Bénédicte, Kim, Linda E., Marco, Elysa J., Mignot, Cyril, Monaghan, Kristin G., Myers, Kenneth A., Parikh, Sumit, Quinonez, Shane C., Rajabi, Farrah, Shankar, Suma P., Shinawi, Marwan S., van de Kamp, Jiddeke J.P., Veerapandiyan, Aravindhan, Waldman, Amy T., Graf, William D.

Volltext