Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss
Duman, Duygu, Ramzan, Memoona, Subasioglu, Asli, Mutlu, Ahmet, Peart, LéShon, Seyhan, Serhat, Guo, Shengru, Ila, Kadri, Balta, Burhan, Kalcioglu, Mahmut Tayyar, Bademci, Guney, Tekin, Mustafa
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Journal Article
P136: Functional studies in ADAMTSL2-related geleophysic dysplasia provide insights into pathogenesis and potential treatment targets
Camarena, Vladimir, Morales, Alejo, Williams, Monique, Zafeer, Mohammad, Kilic, Okan, Kamiar, Ali, Rasmuseen, Monica, Peart, LeShon, Bademci, Guney, Barbouth, Deborah, Smithson, Sarah, Shehadeh, Lina, Wang, Gaofeng, Walz, Katherina, Tekin, Mustafa
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site
Bademci, Guney, Bivona, Stephanie, Peart, LeShon, Johnson, Brittney, Gonzalez, Joanna, Borja, Nicholas, Borjas Mendoza, Paulo, Forghani, Irman, Barbouth, Deborah, Latchman, Kumarie, Thorson, Willa, Guo, Shengru, Smith, Carson, Zuchner, Stephan, Tekin, Mustafa
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site
Bivona, Stephanie, Tekin, Mustafa, Bademci, Guney, Smith, Carson, Peart, LeShon, Johnson, Brittney, Gonzalez, Joanna, Borja, Nicholas, Borjas Mendoza, Paulo, Forghani, Irman, Barbouth, Deborah, Latchman, Kumarie, Thorson, Willa, Guo, Shengru, Zuchner, Stephan
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Dispersed DNA variants underlie hearing loss in South Florida's minority population
Peart, LéShon, Gonzalez, Joanna, Morel Swols, Dayna, Duman, Duygu, Saridogan, Turcin, Ramzan, Memoona, Zafeer, Mohammad Faraz, Liu, Xue Zhong, Eshraghi, Adrien A, Hoffer, Michael E, Angeli, Simon I, Bademci, Guney, Blanton, Susan, Smith, Carson, Telischi, Fred F, Tekin, Mustafa
Published in Human genomics (24.11.2023)
Published in Human genomics (24.11.2023)
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O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)
Bivona, Stephanie, Smith, Carson, Bademci, Guney, Peart, LéShon, Gonzalez, Joanna, Borja, Nicholas, Zuchner, Stephan, Tekin, Mustafa
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia
Camarena, Vladimir, Williams, Monique M, Morales, Alejo A, Zafeer, Mohammad F, Kilic, Okan V, Kamiar, Ali, Abad, Clemer, Rasmussen, Monica A, Briski, Laurence M, Peart, LéShon, Bademci, Guney, Barbouth, Deborah S, Smithson, Sarah, Wang, Gaofeng, Shehadeh, Lina A, Walz, Katherina, Tekin, Mustafa
Published in JCI insight (01.02.2024)
Published in JCI insight (01.02.2024)
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M, Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G, Stettner, Georg M, Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, Escande-Beillard, Nathalie
Published in Nature communications (27.02.2024)
Published in Nature communications (27.02.2024)
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Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
Ramzan, Memoona, Duman, Duygu, Hendricks, LeShon Chere Peart, Guo, Shengru, Mutlu, Ahmet, Kalcioglu, Mahmut Tayyar, Seyhan, Serhat, Carranza, Claudia, Bonyadi, Murtaza, Mahdieh, Nejat, Yildirim-Baylan, Muzeyyen, Figueroa-Ildefonso, Erick, Alper, Ozgul, Atik, Tahir, Ayral, Abdurrahman, Bozan, Nazim, Balta, Burhan, Rivas, Christian, Manzoli, Gabrielle N, Huesca-Hernandez, Fabiola, Kuchay, Raja A H, Durgut, Merve, Bademci, Guney, Tekin, Mustafa
Published in Journal of human genetics (01.10.2023)
Published in Journal of human genetics (01.10.2023)
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