| Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ... Nature genetics 44 (11), 1265-1271, 2012 | 257 | 2012 |
| CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells APJ Giese, YQ Tang, GP Sinha, MR Bowl, AC Goldring, A Parker, ... Nature communications 8 (1), 43, 2017 | 134 | 2017 |
| Gipc1 has a dual role in Vangl2 trafficking and hair bundle integrity in the inner ear AP Giese, J Ezan, L Wang, L Lasvaux, F Lembo, C Mazzocco, E Richard, ... Development 139 (20), 3775-3785, 2012 | 64 | 2012 |
| Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish RLP Santos-Cortez, K Lee, AP Giese, M Ansar, M Amin-Ud-Din, K Rehn, ... Human molecular genetics 23 (12), 3289-3298, 2014 | 63 | 2014 |
| An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans TJ Jaworek, EM Richard, AA Ivanova, APJ Giese, DI Choo, SN Khan, ... PLoS genetics 9 (9), e1003774, 2013 | 56 | 2013 |
| Rare A2ML1 variants confer susceptibility to otitis media RLP Santos-Cortez, CM Chiong, MRT Reyes-Quintos, MLC Tantoco, ... Nature genetics 47 (8), 917-920, 2015 | 49 | 2015 |
| FUT2 variants confer susceptibility to familial otitis media RLP Santos-Cortez, CM Chiong, DN Frank, AF Ryan, APJ Giese, ... The American Journal of Human Genetics 103 (5), 679-690, 2018 | 46 | 2018 |
| Modifier variant of METTL13 suppresses human GAB1–associated profound deafness R Yousaf, ZM Ahmed, APJ Giese, RJ Morell, A Lagziel, A Dabdoub, ... The Journal of clinical investigation 128 (4), 1509-1522, 2018 | 43 | 2018 |
| FAM92A underlies nonsyndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice I Schrauwen, APJ Giese, A Aziz, DT Lafont, I Chakchouk, ... Journal of Bone and Mineral Research 34 (2), 375-386, 2019 | 36 | 2019 |
| A novel C-terminal CIB2 (calcium and integrin binding protein 2) mutation associated with non-syndromic hearing loss in a hispanic family K Patel, AP Giese, JM Grossheim, RS Hegde, M Delio, J Samanich, ... PLoS One 10 (10), e0133082, 2015 | 36 | 2015 |
| Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells CZ Seco, AP Giese, S Shafique, M Schraders, AMM Oonk, M Grossheim, ... European Journal of Human Genetics 24 (4), 542-549, 2016 | 32 | 2016 |
| CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function S Sethna, PA Scott, APJ Giese, T Duncan, X Jian, S Riazuddin, ... Nature communications 12 (1), 3906, 2021 | 27 | 2021 |
| Genetic association analysis of 77,539 genomes reveals rare disease etiologies D Greene, Genomics England Research Consortium, D Pirri, K Frudd, ... Nature Medicine 29 (3), 679-688, 2023 | 24 | 2023 |
| Genomics of otitis media (OM): molecular genetics approaches to characterize disease pathophysiology APJ Giese, S Ali, A Isaiah, I Aziz, S Riazuddin, ZM Ahmed Frontiers in Genetics 11, 313, 2020 | 20 | 2020 |
| Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome S Sethna, WM Zein, S Riaz, APJ Giese, JM Schultz, T Duncan, ... Elife 10, e67361, 2021 | 16 | 2021 |
| Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants DN Frank, APJ Giese, L Hafren, TC Bootpetch, TKL Yarza, MJ Steritz, ... Journal of medical genetics 58 (7), 442-452, 2021 | 16 | 2021 |
| ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment T Bharadwaj, I Schrauwen, S Rehman, K Liaqat, A Acharya, APJ Giese, ... European Journal of Human Genetics 30 (1), 22-33, 2022 | 10 | 2022 |
| Radioprotective effect of aminothiol PrC-210 on irradiated inner ear of guinea pig APJ Giese, JG Guarnaschelli, JA Ward, DI Choo, S Riazuddin, ZM Ahmed PLoS One 10 (11), e0143606, 2015 | 10 | 2015 |
| Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels APJ Giese, WH Weng, KS Kindt, HHV Chang, JS Montgomery, EM Ratzan, ... eLife, 2023 | 5 | 2023 |
| Loss of CIB2 causes non-canonical autophagy deficits and visual impairment S Sethna, PA Scott, APJ Giese, T Duncan, TM Redmond, S Riazuddin, ... bioRxiv, 2020.09. 18.302174, 2020 | 2 | 2020 |
Zubair AhmedUniversity of MarylandVerified email at som.umaryland.edu
