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

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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., Tekleab, Atnafu Mekonnen, Marye, Ayalew, Bekele, Delayehu, Yashar, Beverly M., Hanson, Erika, Yeshidinber, Abate, Wedaje, Getahun

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

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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

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

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

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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.

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

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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.

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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

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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

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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.

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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.

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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.

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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.

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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.

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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

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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.

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The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later von Williams, Linford A., Quinonez, Shane C., Uhlmann, Wendy R.

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Infantile onset Pompe disease presenting with non-immune hydrops fetalis von Lee, Kristen, Fisher, Rachel, Quinonez, Shane C., Ahmad, Ayesha

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