| A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing … FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ... Journal of medical genetics 42 (7), 588-594, 2005 | 373 | 2005 |
| Human male infertility caused by mutations in the CATSPER1 channel protein MR Avenarius, MS Hildebrand, Y Zhang, NC Meyer, LLH Smith, K Kahrizi, ... The American Journal of Human Genetics 84 (4), 505-510, 2009 | 274 | 2009 |
| OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele R Varga, MR Avenarius, PM Kelley, BJ Keats, CI Berlin, LJ Hood, ... Journal of medical genetics 43 (7), 576-581, 2006 | 192 | 2006 |
| A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function M Schwander, A Sczaniecka, N Grillet, JS Bailey, M Avenarius, ... Journal of Neuroscience 27 (9), 2163-2175, 2007 | 190 | 2007 |
| Genetic male infertility and mutation of CATSPER ion channels MS Hildebrand, MR Avenarius, M Fellous, Y Zhang, NC Meyer, J Auer, ... European Journal of Human Genetics 18 (11), 1178-1184, 2010 | 184 | 2010 |
| GJB2 mutations: Passage through Iran H Najmabadi, C Nishimura, K Kahrizi, Y Riazalhosseini, M Malekpour, ... American Journal of Medical Genetics Part A 133 (2), 132-137, 2005 | 112 | 2005 |
| Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like S Ebrahim, MR Avenarius, M Grati, JF Krey, AM Windsor, AD Sousa, ... Nature communications 7 (1), 10833, 2016 | 75 | 2016 |
| Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype C Ruhno, VL McGovern, MR Avenarius, PJ Snyder, TW Prior, FC Nery, ... Human genetics 138, 241-256, 2019 | 66 | 2019 |
| Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse H Odeh, KL Hunker, IA Belyantseva, H Azaiez, MR Avenarius, L Zheng, ... The American Journal of Human Genetics 86 (2), 148-160, 2010 | 53 | 2010 |
| Heterodimeric capping protein is required for stereocilia length and width regulation MR Avenarius, JF Krey, RA Dumont, CP Morgan, CB Benson, ... Journal of Cell Biology 216 (11), 3861-3881, 2017 | 48 | 2017 |
| Evidence for a direct role of the disease modifier SCNM1 in splicing VM Howell, JM Jones, SK Bergren, L Li, AC Billi, MR Avenarius, ... Human molecular genetics 16 (20), 2506-2516, 2007 | 43 | 2007 |
| Distinct patterns of emergence of SARS-CoV-2 spike variants including N501Y in clinical samples in Columbus Ohio H Tu, MR Avenarius, L Kubatko, M Hunt, X Pan, P Ru, J Garee, K Thomas, ... BioRxiv, 2021.01. 12.426407, 2021 | 42 | 2021 |
| Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness AJ Carlton, J Halford, A Underhill, JY Jeng, MR Avenarius, ML Gilbert, ... The Journal of Physiology 599 (4), 1173-1198, 2021 | 34 | 2021 |
| Correlation of actin crosslinker and capper expression levels with stereocilia growth phases MR Avenarius, KW Saylor, MR Lundeberg, PA Wilmarth, JB Shin, ... Molecular & Cellular Proteomics 13 (2), 606-620, 2014 | 34 | 2014 |
| The Coxsackievirus and Adenovirus Receptor: A new adhesion protein in cochlear development KJDA Excoffon, MR Avenarius, MR Hansen, WJ Kimberling, H Najmabadi, ... Hearing research 215 (1-2), 1-9, 2006 | 32 | 2006 |
| Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth CE Cottrell, NR Bender, MT Zimmermann, JW Heusel, M Corliss, ... Genetics in Medicine 23 (10), 1882-1888, 2021 | 29 | 2021 |
| Activation of the RAS pathway through uncommon BRAF mutations in mucinous pancreatic cysts without KRAS mutation R Ren, SG Krishna, W Chen, WL Frankel, R Shen, W Zhao, MR Avenarius, ... Modern Pathology 34 (2), 438-444, 2021 | 24 | 2021 |
| CATSPER-related male infertility MS Hildebrand, MR Avenarius, RJH Smith | 23 | 2017 |
| CATSPER-related male infertility MS Hildebrand, MR Avenarius, RJH Smith | 23 | 2017 |
| CATSPER-related male infertility MS Hildebrand, MR Avenarius, RJH Smith | 23 | 2017 |
