Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families by Arti Pandya, Alexander O'Brien, Michael Kovasala, Guney Bademci, Mustafa Tekin, Kathleen S. Arnos

Get full text

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. by Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

Get full text

P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder by Irman Forghani, Steven Lang, Mustafa Tekin, Guney Bademci, Stephanie Bivona, Stephan Zuchner, Matthew Rodier, Alejo Morales

Get full text

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

Get full text

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss by Memoona Ramzan, Nazim Bozan, Serhat Seyhan, Mohammad Faraz Zafeer, Aburrahman Ayral, Duygu Duman, Guney Bademci, Mustafa Tekin

Get full text

Conventional and Molecular Cytogenetic Analyses in Turkish Patients with Multiple Myeloma by Beyhan Durak Aras, Olga Meltem Akay, Gülçin Sungar, Güney Bademci, Vahap Aslan, Jülide Caferler, Muhsin Özdemir, Oğuz Çilingir, Sevilhan Artan, Zafer Gülbaş

Get full text

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies by Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin, Yao-Shan Fan

Get full text

Radixin modulates the function of outer hair cell stereocilia by Sonal Prasad, Barbara Vona, Marta Diñeiro, María Costales, Rocío González-Aguado, Ana Fontalba, Clara Diego-Pérez, Asli Subasioglu, Guney Bademci, Mustafa Tekin, Rubén Cabanillas, Juan Cadiñanos, Anders Fridberger

Get full text

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies by Ashraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, Rayan Abou Khzam, Brittney Keira Johnson, LéShon Peart, Sarha D’Haiti, Alana L. Grajewski, Mustafa Tekin, Ta Chen Chang, Guney Bademci

Get full text

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

Get full text

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

Get full text

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

Get full text

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. by Megan McSherry, Katherine E Masih, Nursel H Elcioglu, Pelin Celik, Ozge Balci, Filiz Basak Cengiz, Daniella Nunez, Claire J Sineni, Serhat Seyhan, Defne Kocaoglu, Shengru Guo, Duygu Duman, Guney Bademci, Mustafa Tekin

Get full text

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism by Maike F. Dohrn, Guney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, Matt C. Danzi, Stephanie A. Bivona, Paul Gueguen, Mohammad F. Zafeer, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner

Get full text

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach. by Yvonne J K Edwards, Gary W Beecham, William K Scott, Sawsan Khuri, Guney Bademci, Demet Tekin, Eden R Martin, Zhijie Jiang, Deborah C Mash, Jarlath ffrench-Mullen, Margaret A Pericak-Vance, Nicholas Tsinoremas, Jeffery M Vance

Get full text

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

Get full text

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. by Dale J Hedges, Toumy Guettouche, Shan Yang, Guney Bademci, Ashley Diaz, Ashley Andersen, William F Hulme, Sara Linker, Arpit Mehta, Yvonne J K Edwards, Gary W Beecham, Eden R Martin, Margaret A Pericak-Vance, Stephan Zuchner, Jeffery M Vance, John R Gilbert

Get full text

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

Get full text