Saima Riazuddin

Overview

Best Publications

• Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

  Julie M. Bork;Linda M. Peters;Saima Riazuddin;Saima Riazuddin;Steve L. Bernstein

  642
  Citations

• Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

  Edward R Wilcox;Quianna L Burton;Sadaf Naz;Saima Riazuddin;Saima Riazuddin

  556
  Citations

• Dominant and recessive deafness caused by mutations of a novel gene, TMC1 , required for cochlear hair-cell function

  Kiyoto Kurima;Linda M. Peters;Yandan Yang;Saima Riazuddin

  503
  Citations

• Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

  Zubair M. Ahmed;Saima Riazuddin;Steve L. Bernstein;Zahoor Ahmed

  479
  Citations

• Tricellulin Is a Tight-Junction Protein Necessary for Hearing

  Saima Riazuddin;Saima Riazuddin;Zubair M. Ahmed;Alan S. Fanning;Ayala Lagziel

  352
  Citations

• PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

  Zubair M. Ahmed;Saima Riazuddin;Jamil Ahmad;Steve L. Bernstein

  342
  Citations

• The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15

  Zubair M. Ahmed;Richard Goodyear;Saima Riazuddin;Ayala Lagziel

  325
  Citations

• Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

  Saima Riazuddin;Inna A Belyantseva;Arnaud P J Giese;Kwanghyuk Lee

  283
  Citations

• CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

  L.M. Astuto;J.M. Bork;M.D. Weston;J.W. Askew

  255
  Citations

• Increasing the complexity: new genes and new types of albinism

  Lluís Montoliu;Karen Grønskov;Karen Grønskov;Ai-Hua Wei;Mónica Martínez-García

  242
  Citations

• Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

  Atteeq Ur Rehman;Atteeq Ur Rehman;Robert J. Morell;Inna A. Belyantseva;Shahid Y. Khan

  240
  Citations

• Mutations of MYO6 Are Associated with Recessive Deafness, DFNB37

  Zubair M. Ahmed;Robert J. Morell;Saima Riazuddin;Andrea Gropman

  233
  Citations

• Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing

  Shin Ichiro Kitajiri;Takeshi Sakamoto;Inna A. Belyantseva;Richard J. Goodyear

  217
  Citations

• The molecular genetics of Usher syndrome.

  ZM Ahmed;S Riazuddin;ER Wilcox;ER Wilcox

  200
  Citations

• Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

  Zubair M. Ahmed;Tenesha N. Smith;Saima Riazuddin;Tomoko Makishima

  189
  Citations

• Dominant modifier DFNM1 suppresses recessive deafness DFNB26

  Saima Riazuddin;Saima Riazuddin;Caley M. Castelein;Zubair M. Ahmed;Zubair M. Ahmed;Anil K. Lalwani

  176
  Citations

• Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

  Sadaf Naz;Chantal M. Giguere;David C. Kohrman;Kristina L. Mitchem

  167
  Citations

• CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.

  Arnaud P. J. Giese;Yi-Quan Tang;Ghanshyam P. Sinha;Michael R. Bowl

  165
  Citations

• Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

  S Naz;A J Griffith;S Riazuddin;L L Hampton

  161
  Citations

• Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

  Nikki Liburd;Manju Ghosh;Saima Riazuddin;Sadaf Naz

  153
  Citations