Shaheen N. Khan

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

• 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

• Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

  Park Hj;Shaukat S;Liu Xz;Hahn Sh

  402
  Citations

• Tricellulin Is a Tight-Junction Protein Necessary for Hearing

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

  352
  Citations

• Null mutations in LTBP2 cause primary congenital glaucoma.

  Manir Ali;Martin McKibbin;Martin McKibbin;Adam Booth;David A. Parry

  349
  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

• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

  Emma M. Jenkinson;Atteeq U. Rehman;Tom Walsh;Jill Clayton-Smith

  245
  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

• Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

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

  161
  Citations

• Mesenchymal stem cells and Interleukin-6 attenuate liver fibrosis in mice

  Ghazanfar Ali Nasir;Sadia Mohsin;Mohsin Khan;Sulaiman Shams

  160
  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

• Bone marrow derived mesenchymal stem cells from aged mice have reduced wound healing, angiogenesis, proliferation and anti-apoptosis capabilities.

  Mahmood Saba Choudhery;Mohsin Khan;Ruhma Mahmood;Azra Mehmood

  147
  Citations

• Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

  Guntram Borck;Atteeq Ur Rehman;Atteeq Ur Rehman;Kwanghyuk Lee;Hans Martin Pogoda

  134
  Citations

• Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74

  Zubair M. Ahmed;Rizwan Yousaf;Rizwan Yousaf;Byung Cheon Lee;Shaheen N. Khan

  132
  Citations

• Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.

  Saima Riazuddin;Shaheen N. Khan;Zubair M. Ahmed;Manju Ghosh

  131
  Citations

• A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.

  S. Amer Riazuddin;Muhammad Iqbal;Yue Wang;Tomohiro Masuda

  130
  Citations

• Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

  Saima Riazuddin;Sabiha Nazli;Zubair M. Ahmed;Yi Yang

  127
  Citations