Author
University of MiamiORCID 0000-0002-3525-7960Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
8 papers
Recent·Most cited
Koteswara Rao Garikapati, Derek Van Booven, Mohammad Faraz Zafeer, Mustafa Tekin, Gaofeng Wang
This study shows that CBP promotes STING-mediated transcription in the nucleus, while p300 suppresses STING signaling in the cytoplasm, with p300 inhibitors enhancing immune responses.
bioRxiv · Sep 3, 2026 · PreprintImmunology
Taylor M. Maurer, Rodrigo Mendez, Rachel A. Ungar, Devon E. Bonner, Dena R. Matalon, Gabrielle Lemire, Pagé C. Goddard, Evin M. Padhi, Alexander M Miller, Jonathan V. Nguyen, Jialan Ma, Kevin S. Smith, Stuart Alexander Scott, Linda Liao, Zena Ng, , Vijay S Ganesh
The paper identifies individuals with minor spliceopathies by analyzing transcriptome-wide splicing outliers in RNA-seq data from rare disease cohorts.
The American Journal of Human Genetics · Sep 19, 2025Peer-reviewedGenetic & Genomic Medicine
Alejo A. Morales, Vladimir Camarena, LéShon Peart, Sarah Smithson, Lindsay Shaw, Lucy Webber, Jose M. Negron, Juan E. Sola, Ann‐Christina Brady, Katherina Walz, Gaofeng Wang, Mustafa Tekin
This study investigates how matrix metalloproteinases (MMP-1 and MMP-14) contribute to cell migration defects in geleophysic dysplasia, showing their potential as therapeutic targets.
Scientific Reports · Jun 6, 2025Peer-reviewedCell Biology
Sarah Fazal, Matt Christopher Danzi, Isaac R. L. Xu, Shilpa N. Kobren, Shamil R. Sunyaev, Chloe M. Reuter, Shruti Marwaha, Matthew Thomas Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan L. Zuchner, Vanessa Aguiar‐Pulido
RExPRT predicts pathogenicity of tandem repeat expansions with high precision, identifying ~30,000 likely pathogenic TRs in the reference genome.
Genome biology · Jan 31, 2024Peer-reviewedBioinformatics
Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, , Kejian Zhang
The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.
Genetics in Medicine · Jul 6, 2021Peer-reviewedGenetic & Genomic Medicine
Sonal Prasad, Barbara Vona, Marta Diñeiro, María Costales, Rocío González Aguado, Ana Fontalba, Clara Diego-Pérez, Aslı Subaşıoğlu, Güney Bademci, Mustafa Tekin, Rubén Cabanillas, Juan Cadiñanos, Anders Fridberger
This study shows that radixin is essential for cochlear amplification by modulating stereocilia function and sound-evoked electrical potentials in guinea pigs.
bioRxiv · Feb 11, 2020 · PreprintNeuroscience
Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok Peter Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John J. Alexander, Yan Zhang, Yoel Hirsch, , Lisa A. Schimmenti
The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.
Genetics in Medicine · Jun 3, 2019Peer-reviewedGenetics
Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. A. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, , Keijan Zhang
The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.
Genetics in Medicine · Mar 20, 2019Peer-reviewedGenomics