S. Riazuddin

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2013, Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22‐23

S. Riazuddin, S. Riazuddin, SN Khan, 2009, Clinical genetics.

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2007, Human Mutation.

The molecular genetics of Usher syndrome

S. Riazuddin, S. Riazuddin, Z. Ahmed, 2003, Clinical genetics.

Mutations of MYO6 are associated with recessive deafness, DFNB37.

L. Fananapazir, S. Riazuddin, Z. Ahmed, 2003, American journal of human genetics.

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

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2002, Human Genetics.

GNAT1 associated with autosomal recessive congenital stationary night blindness.

P. Sieving, S. Riazuddin, Shaheen N. Khan, 2012, Investigative ophthalmology & visual science.

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

P. Sieving, N. Katsanis, I. MacDonald, 2010, American journal of human genetics.

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.

P. Sieving, S. Riazuddin, N. Nakaya, 2010, American journal of human genetics.

Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.

P. Sieving, M. Othman, J. Heckenlively, 2018, Advances in experimental medicine and biology.

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

Ikuko Fujiwara, James Sellers, John A. Hammer, 2010, Cell.

Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

S. Riazuddin, S. Riazuddin, A. Griffith, 2001, Cell.

Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.

P. Sieving, S. Riazuddin, S. Riazuddin, 2006, Molecular vision.

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

S. Riazuddin, S. Riazuddin, A. Griffith, 2002, American Journal of Human Genetics.

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.

D. Wieczorek, S. Riazuddin, Z. Ahmed, 2019, American journal of human genetics.

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2018, The Journal of clinical investigation.

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2000, Nature Genetics.

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

Kang Zhang, Nicholas Katsanis, Donald J Zack, 2010, American journal of human genetics.

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

H. Ostrer, B. Keats, S. Riazuddin, 2002, Nature Genetics.

A mutation in IFT43 causes non-syndromic recessive retinal degeneration

K. Frazer, J. Duncan, S. Riazuddin, 2017, Human molecular genetics.

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

Tayyab Husnain, Radha Ayyagari, Shaheen N. Khan, 2015, Molecular vision.

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.

J. Duncan, J. Heckenlively, S. Riazuddin, 2014, Genomics.

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

P. Sieving, S. Riazuddin, Shaheen N. Khan, 2011, British Journal of Ophthalmology.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

S. Riazuddin, J. Hejtmancik, Xueshan Xiao, 2004, Molecular vision.

Allele frequency distribution of 13 X-chromosomal STR loci in Pakistani population

S. Riazuddin, M. Tariq, O. Ullah, 2008, Zeitschrift für Rechtsmedizin.

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Mohsin Shahzad, S. Riazuddin, Z. Ahmed, 2010, American journal of human genetics.

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

P. Sieving, S. Riazuddin, Shaheen N. Khan, 2011, Archives of ophthalmology.

Identification of three rare beta-thalassemia mutations in the Pakistani population.

S. Riazuddin, R. Galanello, S. Khan, 2000, Hemoglobin.

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

W. Pavan, E. Green, S. Riazuddin, 2006, American journal of human genetics.

Phenotypic variability associated with the D226N allele of IMPDH1.

S. Riazuddin, Shaheen N. Khan, S. Riazuddin, 2015, Ophthalmology.

Interaction of Bacillus thuringiensis δ-endotoxins with Midgut Brush Border Membrane Vesicles of Helicoverpa armigera

S. Riazuddin, S. Karim, D. Dean, 1999 .

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family

Shaheen N. Khan, S. Riazuddin, Mariam Shahid, 2010, Molecular vision.

A new locus for autosomal recessive congenital cataract identified in a Pakistani family

Shaheen N. Khan, I. Nasir, S. Riazuddin, 2010, Molecular vision.

DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2010, European Journal of Human Genetics.

Segregation of DFNB 49 with congenital sensorineural bilateral profound hearing loss

Z. Ahmed, S. Riazuddin, Nazir Ahmad, 2015 .

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2011, Journal of Human Genetics.

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

S. Riazuddin, S. Y. Khan, X. Jiao, 2019, PloS one.

Development of NSAID-loaded nano-composite scaffolds for skin tissue engineering applications.

S. Riazuddin, M. Yar, L. Shahzadi, 2020, Journal of biomedical materials research. Part B, Applied biomaterials.

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

S. Gregory, Yi-Ju Li, N. Katsanis, 2010, American journal of human genetics.

Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophy a

N. Katsanis, T. Aung, S. Riazuddin, 2010, Human mutation.

Age-severity relationships in families linked to FCD2 with retroillumination photography.

N. Katsanis, S. Riazuddin, D. Emmert, 2010, Investigative ophthalmology & visual science.

Nitric oxide augments mesenchymal stem cell ability to repair liver fibrosis

Shaheen N. Khan, S. Riazuddin, M. Khan, 2012, Journal of Translational Medicine.

Serum from CCl4-induced acute rat injury model induces differentiation of ADSCs towards hepatic cells and reduces liver fibrosis

Shaheen N. Khan, S. Riazuddin, S. Awan, 2017, Growth factors.

A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.

P. Sieving, S. Riazuddin, S. Riazuddin, 2005, Molecular vision.

N‐Acetyl cysteine protects diabetic mouse derived mesenchymal stem cells from hydrogen‐peroxide‐induced injury: A novel hypothesis for autologous stem cell transplantation

Shaheen N. Khan, S. Riazuddin, M. Khan, 2016, Journal of the Chinese Medical Association : JCMA.

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1

Shaheen N. Khan, I. Nasir, S. Riazuddin, 2010, Molecular vision.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

L. Vissers, H. Peeters, J. Veltman, 2013, Human molecular genetics.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan

S. Riazuddin, S. Riazuddin, M. Shahzad, 2009, Clinical genetics.

Expression of Bt Gene in a Dicot Plant Under Promoter Derived from a Monocot Plant

S. Riazuddin, I. Altosaar, Z. Latif, 2001 .

Identification of micro-RNAs in cotton.

S. Riazuddin, M. Irfan, A. Maqbool, 2008, Plant physiology and biochemistry : PPB.

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2018, Journal of Medical Genetics.