Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review

by LéShon Peart, Mustafa Tekin
Published 2024-05-01

P254: Exome sequencing as a first-tier approach for rare forms of syndromic hearing loss

by Carson Smith, Dayna Morel, LéShon Peart, Memoona Ramzan, Mustafa Tekin
Published 2024-01-01

O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

by Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin
Published 2024-01-01

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

by Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network, Guney Bademci, Mustafa Tekin
Published 2022-04-01

P136: Functional studies in ADAMTSL2-related geleophysic dysplasia provide insights into pathogenesis and potential treatment targets*

by Vladimir Camarena, Alejo Morales, Monique Williams, Mohammad Zafeer, Okan Kilic, Ali Kamiar, Monica Rasmuseen, LeShon Peart, Guney Bademci, Deborah Barbouth, Sarah Smithson, Lina Shehadeh, Gaofeng Wang, Katherina Walz, Mustafa Tekin
Published 2023-01-01

P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site

by Guney Bademci, Stephanie Bivona, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Carson Smith, Stephan Zuchner, Mustafa Tekin
Published 2023-01-01

P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site

by Stephanie Bivona, Mustafa Tekin, Guney Bademci, Carson Smith, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Stephan Zuchner
Published 2023-01-01

Dispersed DNA variants underlie hearing loss in South Florida’s minority population

by LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi, Mustafa Tekin
Published 2023-11-01

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

by Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Published 2024-02-01