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.

A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13‐p12

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2005, American journal of medical genetics. Part A.

Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

S. Riazuddin, Z. Ahmed, Muhammad Ali, 2021, BioMed research international.

Mutational spectrum of MYO15A: the large N‐terminal extension of myosin XVA is required for hearing

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2007, Human mutation.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

S. Leal, S. Riazuddin, Z. Ahmed, 2016, Human mutation.

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

P. Sieving, S. Riazuddin, Z. Ahmed, 2003, Human molecular genetics.

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

S. Riazuddin, Z. Ahmed, A. Griffith, 2021, eLife.

Potential therapy for progressive vision loss due to PCDH15-associated Usher Syndrome developed in an orthologous Usher mouse

S. Riazuddin, Z. Ahmed, A. Griffith, 2021, bioRxiv.

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.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

T. Strom, H. Kremer, S. Riazuddin, 2015, European Journal of Human Genetics.

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2012, Journal of Human Genetics.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Heidi L Rehm, Wadih M Zein, Zawar Hussain, 2011, Journal of Medical Genetics.

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

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

Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration

P. Sieving, S. Riazuddin, Z. Ahmed, 2008, Molecular vision.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

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

J. Sellers, S. Riazuddin, Z. Ahmed, 2008, Human mutation.

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2007, Human 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 Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15

R. Goodyear, G. Richardson, S. Riazuddin, 2006, The Journal of Neuroscience.

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2006, Journal of Medical Genetics.

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.

PP2ACα deficiency impairs early cortical development through inducing DNA damage in neuroprojenitor cells.

L. Di, C. Deng, S. Riazuddin, 2019, The international journal of biochemistry & cell biology.

The role of CDHR3 in susceptibility to otitis media

Melissa A. Scholes, D. Nickerson, J. Kere, 2021, Journal of Molecular Medicine.

Multi-omic studies on missense PLG variants in families with otitis media

Melissa A. Scholes, D. Nickerson, J. Kere, 2020, Scientific Reports.

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways

Ivana V. Yang, Melissa A. Scholes, D. Nickerson, 2019, Human mutation.

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Ivana V. Yang, Melissa A. Scholes, D. Nickerson, 2018, American journal of human genetics.

Methods exomeSuite : Whole exome sequence variant fi ltering tool for rapid identi fi cation of putative disease causing SNVs / indels

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

Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

D. Nickerson, J. Kere, S. Leal, 2020, Journal of Medical Genetics.

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Gao T. Wang, J. Shendure, D. Nickerson, 2014, European Journal of Human Genetics.

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.

J. Shendure, D. Nickerson, S. Leal, 2014, Human molecular genetics.

An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

R. Kahn, S. Riazuddin, Shaheen N. Khan, 2013, PLoS genetics.

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

S. Riazuddin, Shaheen N. Khan, S. Riazuddin, 2012, Journal of Human 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.

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma

S. Riazuddin, S. Riazuddin, S. Y. Khan, 2020, Molecular vision.

The molecular genetics of Usher syndrome

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

PCDH 15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH 1 F and DFNB 23

P. Sieving, S. Riazuddin, Z. Ahmed, 2003 .

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

J. Schuurs-Hoeijmakers, S. Antonarakis, R. Płoski, 2021, Genetics in Medicine.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

D. Grozeva, J. Veltman, T. O’Connor, 2016, Molecular Psychiatry.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

J. Shendure, D. Nickerson, S. Leal, 2014, American journal of human genetics.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

S. Riazuddin, S. Riazuddin, M. Shahzad, 2021, Human Genetics.

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

S. Riazuddin, S. Riazuddin, M. Shahzad, 2021, Human genetics.

Rare A2ML1 variants confer susceptibility to otitis media

Gao T. Wang, J. Shendure, D. Nickerson, 2015, Nature Genetics.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

S. Leal, C. Cremers, G. Vriend, 2008, American journal of human genetics.

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.

R. Pfundt, Pedro Rebelo-Guiomar, M. Minczuk, 2018, American journal of human genetics.

INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family

S. Riazuddin, Z. Ahmed, S. Yousaf, 2018, Clinical genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

P. Striano, F. Alkuraya, F. Zara, 2020, European Journal of Human Genetics.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

W. Chung, E. Puffenberger, Z. Niu, 2021, American journal of human genetics.

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

S. Riazuddin, Z. Ahmed, M. Shahzad, 2020, Human Genetics.

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

D. Nickerson, S. Leal, M. Bamshad, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan

S. Riazuddin, Z. Ahmed, S. Yousaf, 2019, Molecular vision.

CIB2 regulates autophagy via Rheb-mTORC1 signaling axis

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2020, bioRxiv.

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

M. Dattani, T. Révész, V. Plagnol, 2014, Journal of Medical Genetics.

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.

Y. Raphael, M. Brilliant, S. Riazuddin, 2010, American journal of human genetics.

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2021, European Journal of Human Genetics.

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2021, European journal of human genetics : EJHG.

DFNB74, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 12q14.2‐q15

S. Riazuddin, S. Riazuddin, T. Friedman, 2009, Clinical genetics.

MEKK4 Signaling Regulates Sensory Cell Development and Function in the Mouse Inner Ear

S. Riazuddin, A. Pandey, Chandrakala Puligilla, 2016, The Journal of Neuroscience.

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

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

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population

S. Riazuddin, Z. Ahmed, N. Sobreira, 2015, Pigment cell & melanoma research.

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3

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

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

B. Morrow, S. Riazuddin, Z. Ahmed, 2015, PLoS ONE.

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

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

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

U. Scholl, S. Riazuddin, Z. Ahmed, 2009, American journal of human genetics.

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia

B. J. Klevering, S. Riazuddin, M. Cortón, 2015, British Journal of Ophthalmology.

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

Steve D. M. Brown, G. P. Sinha, R. Fettiplace, 2017, Nature Communications.

CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function

S. Riazuddin, Z. Ahmed, S. Riazuddin, 2021, Nature Communications.

Genetic Modifiers of Hearing Loss

S. Riazuddin, T. Friedman, R. Yousaf, 2016 .

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

B. Gelb, I. Yamanaka, S. Riazuddin, 2023, Nature Medicine.

Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract

S. Riazuddin, Z. Ahmed, A. M. Waryah, 2021, International journal of molecular sciences.

Studies on the production of spore crystal by bacillus thuringiensis CAMB 3-023 in the stirred fermentor

S. Riazuddin, A. Zafar, M. Qadeer, 2003 .

MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin

D. Gašperíková, S. Riazuddin, Z. Ahmed, 2015, PloS one.

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

A. Pandya, S. Antonarakis, J. Kudoh, 2001, Journal of medical genetics.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

A. Starr, A. Busch, Eddie Park, 2015, PLoS genetics.

Title Mutations of Human NARS 2 , Encoding the Mitochondrial Asparaginyl-tRNA Synthetase , Cause Nonsyndromic Deafness and Leigh Syndrome Permalink

A. Starr, A. Busch, Eddie Park, 2015 .

Identification and clinical characterization of Hermansky–Pudlak syndrome alleles in the Pakistani population

S. Riazuddin, Z. Ahmed, S. Yousaf, 2016, Pigment cell & melanoma research.

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

Lana M. Pollock, D. Nickerson, S. Leal, 2021, European journal of human genetics : EJHG.

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

R. Kahn, S. Riazuddin, Z. Ahmed, 2019, Investigative ophthalmology & visual science.

Mutation of ATF6 causes autosomal recessive achromatopsia

J. Shendure, D. Nickerson, S. Leal, 2015, Human Genetics.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

D. Misceo, S. Antonarakis, S. Riazuddin, 2018, Genetics in Medicine.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

D. Gašperíková, S. Riazuddin, Z. Ahmed, 2015, Human Genetics.

Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels

J. R. Holt, Hui Ho Vanessa Chang, K. Cullen, 2023, bioRxiv.

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss

S. Riazuddin, Z. Ahmed, M. Shahzad, 2020, Genes.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

N. Brown, S. Ellard, M. Broly, 2022, American journal of human genetics.

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families

S. Riazuddin, Z. Ahmed, S. Bukhari, 2019, Genes.

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

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

Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families

S. Riazuddin, Z. Ahmed, S. Yousaf, 2022, Genes.

Whole genome sequencing data of multiple individuals of Pakistani descent

S. Riazuddin, S. Riazuddin, M. W. Lee, 2020, Scientific Data.

DFNB86, a novel autosomal recessive non‐syndromic deafness locus on chromosome 16p13.3

S. Riazuddin, S. Riazuddin, Rahima Ali, 2012, Clinical genetics.

Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig

S. Riazuddin, Z. Ahmed, D. Choo, 2015, PloS one.

A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred

S. Riazuddin, M. Shahzad, R. Hufnagel, 2016, Clinical genetics.

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

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2001, American journal of human genetics.

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

M. Bitner-Glindzicz, S. Riazuddin, Z. Ahmed, 2001, American journal of human genetics.

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

J. Lupski, S. Riazuddin, Z. Ahmed, 2001, Human Genetics.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

S. Leal, D. Stephan, M. Schiller, 2011, American journal of human genetics.

A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family.

S. Riazuddin, S. Riazuddin, M. Sabar, 2005, Investigative ophthalmology & visual science.

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31

S. Riazuddin, S. Riazuddin, L. Amiri-Kordestani, 2009, Molecular vision.

Mutations of MYO6 are associated with recessive deafness, DFNB37.

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

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

J. W. Askew, W. Reardon, H. Kremer, 2002, 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.

Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

P. Sieving, N. Katsanis, I. MacDonald, 2010 .

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.

A novel locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family maps to chromosome 2p.

P. Sieving, S. Riazuddin, S. Riazuddin, 2010, American journal of ophthalmology.

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

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

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

P. Sieving, S. Riazuddin, S. Riazuddin, 2005, Investigative ophthalmology & visual science.

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.

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.

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

S. Riazuddin, S. Riazuddin, J. Hejtmancik, 2005, Investigative ophthalmology & visual science.

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.

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

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

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.

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma

S. Riazuddin, Shaheen N. Khan, S. Riazuddin, 2008, Molecular vision.

Phenotypic variability associated with the D226N allele of IMPDH1.

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

Distinctive audiometric profile associated with DFNB21 alleles of TECTA

S. Riazuddin, S. Riazuddin, T. Friedman, 2003, Journal of medical genetics.

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

S. Riazuddin, Shaheen N. Khan, S. Riazuddin, 2004, Journal of Medical Genetics.

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.

Loss of CIB2 causes non-canonical autophagy deficits and visual impairment

S. Riazuddin, P. Scott, T Michael Redmond, 2020, bioRxiv.

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.

Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells

C. V. Vander Kooi, S. Riazuddin, G. Frolenkov, 2023, bioRxiv.

Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

B. Morrow, S. Riazuddin, R. Hegde, 2015, PloS one.