Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 13093* | 2021 |
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 JM Bork, LM Peters, S Riazuddin, SL Bernstein, ZM Ahmed, SL Ness, ... The American Journal of Human Genetics 68 (1), 26-37, 2001 | 638 | 2001 |
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function K Kurima, LM Peters, Y Yang, S Riazuddin, ZM Ahmed, S Naz, D Arnaud, ... Nature genetics 30 (3), 277-284, 2002 | 483 | 2002 |
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F ZM Ahmed, S Riazuddin, SL Bernstein, Z Ahmed, S Khan, AJ Griffith, ... The American Journal of Human Genetics 69 (1), 25-34, 2001 | 475 | 2001 |
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia IA Belyantseva, ET Boger, S Naz, GI Frolenkov, JR Sellers, ZM Ahmed, ... Nature cell biology 7 (2), 148-156, 2005 | 372 | 2005 |
Tricellulin is a tight-junction protein necessary for hearing S Riazuddin, ZM Ahmed, AS Fanning, A Lagziel, S Kitajiri, K Ramzan, ... The American Journal of Human Genetics 79 (6), 1040-1051, 2006 | 349 | 2006 |
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 ZM Ahmed, S Riazuddin, J Ahmad, SL Bernstein, Y Guo, MF Sabar, ... Human molecular genetics 12 (24), 3215-3223, 2003 | 333 | 2003 |
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15 ZM Ahmed, R Goodyear, S Riazuddin, A Lagziel, PK Legan, M Behra, ... Journal of Neuroscience 26 (26), 7022-7034, 2006 | 307 | 2006 |
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 | 258 | 2012 |
Increasing the complexity: new genes and new types of albinism L Montoliu, K Grønskov, AH Wei, M Martínez‐García, A Fernández, ... Pigment cell & melanoma research 27 (1), 11-18, 2014 | 246 | 2014 |
Mutations of MYO6 are associated with recessive deafness, DFNB37 ZM Ahmed, RJ Morell, S Riazuddin, A Gropman, S Shaukat, MM Ahmad, ... The American Journal of Human Genetics 72 (5), 1315-1322, 2003 | 232 | 2003 |
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 AU Rehman, RJ Morell, IA Belyantseva, SY Khan, ET Boger, M Shahzad, ... The American Journal of Human Genetics 86 (3), 378-388, 2010 | 228 | 2010 |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 213 | 2015 |
The molecular genetics of Usher syndrome ZM Ahmed, S Riazuddin, S Riazuddin, ER Wilcox Clinical genetics 63 (6), 431-444, 2003 | 202 | 2003 |
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing S Kitajiri, T Sakamoto, IA Belyantseva, RJ Goodyear, R Stepanyan, ... Cell 141 (5), 786-798, 2010 | 199 | 2010 |
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC ZM Ahmed, TN Smith, S Riazuddin, T Makishima, M Ghosh, S Bokhari, ... Human genetics 110, 527-531, 2002 | 190 | 2002 |
Dominant modifier DFNM1 suppresses recessive deafness DFNB26 S Riazuddin, CM Castelein, ZM Ahmed, AK Lalwani, MA Mastroianni, ... Nature genetics 26 (4), 431-434, 2000 | 171 | 2000 |
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development A Lagziel, ZM Ahmed, JM Schultz, RJ Morell, IA Belyantseva, ... Developmental biology 280 (2), 295-306, 2005 | 156 | 2005 |
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis … N Liburd, M Ghosh, S Riazuddin, S Naz, S Khan, Z Ahmed, S Riazuddin, ... Human genetics 109, 535-541, 2001 | 153 | 2001 |
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, DL Polla, Y Song, ... Molecular psychiatry 22 (11), 1604-1614, 2017 | 136 | 2017 |