List of works - Saima Riazuddin

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

scientific article

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

scientific article

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

scientific article

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

scientific article published on 21 May 2019

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

scientific article published on 16 June 2021

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing

scientific article

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

scientific article

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

scientific article published on 22 September 2011

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

scientific article

An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans

scientific article (publication date: 2013)

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

scientific article

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

scientific article

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

scientific article published on 26 September 2019

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

scientific article published on 22 June 2020

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

scientific article published on 24 August 2017

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

scientific article

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

scientific article

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

scientific article

Clinical manifestations of DFNB29 deafness

scientific article published in January 2002

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

scientific article published on 16 October 2015

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

scientific article published on 12 February 2005

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

scientific article published on January 2010

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

scientific article published on 31 July 2020

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

scientific article published on 10 December 2019

Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma

scientific article published on 30 October 2018

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

scientific article (publication date: March 2002)

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

scientific article published on 08 December 2008

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

scientific article published on 05 November 2018

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

scientific article

GNAT1 associated with autosomal recessive congenital stationary night blindness

scientific article published on 13 March 2012

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

scientific article published on 22 August 2008

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss

scientific article

Genetic modifiers of hereditary hearing loss

scientific article published in January 2002

Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology

scientific article published on 23 April 2020

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

article

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

scientific article published on 17 August 2017

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

scientific article published on 01 November 2019

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

scientific article

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

scientific article

Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss

scientific article published on 24 November 2020

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

scientific article

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

scientific article published in 2021

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

scholarly article by Muhammad Rashid et al published 2019 in Molecular Vision

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

scientific article

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

scientific article published on 23 March 2018

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

scientific article

MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells

scientific article

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin

scientific article published on 17 April 2015

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

scientific article

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

scientific article

Molecular and clinical studies of X-linked deafness among Pakistani families

scientific article

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

scientific article published on 30 July 2009

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6

scientific article published on 09 April 2020

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

scientific article published on 26 June 2012

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

scientific article

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

scientific article published on 07 March 2017

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

scientific article published on 14 September 2020

Mutation of ATF6 causes autosomal recessive achromatopsia

scientific article published on 11 June 2015

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

scientific article published in April 2008

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

scientific article

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

scientific article

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

scientific article published on 28 March 2018

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

scientific journal article

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

scientific article published on January 2014

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

scientific article

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

scientific article published on 24 July 2002

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

scientific article

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

scientific article published on 10 June 2011

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

scientific article

Mutations of MYO6 are associated with recessive deafness, DFNB37

scientific article

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

scientific article

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

scientific article published on 03 February 2006

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

scientific article

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

scientific article published on 05 December 2014

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

scientific article

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

scientific article

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

scientific article published on 22 August 2020

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

scientific article

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

scientific article published on 19 June 2020

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

scientific article published on 24 July 2020

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

scientific article published on October 21, 2003

Phenotypic variability associated with the D226N allele of IMPDH1.

scientific article published on 13 November 2014

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

scientific article published on 13 December 2012

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

scientific article published on 30 March 2020

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

scientific article

Rare A2ML1 variants confer susceptibility to otitis media

scientific article

Recent advances in the understanding of syndromic forms of hearing loss

scientific article

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

scientific article published on 13 March 2009

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

scientific article

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

scientific article published on 10 August 2007

The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15

scientific article published on 01 June 2006

Tricellulin deficiency affects tight junction architecture and cochlear hair cells.

scientific article

Tricellulin is a tight-junction protein necessary for hearing

scientific article

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

scientific article published on 21 June 2012

Usher proteins in inner ear structure and function

scientific article published on 10 September 2013

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

scientific article

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

scientific article published on 01 December 2018

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

scientific article published in 2024

Whole genome sequencing data of multiple individuals of Pakistani descent

scientific article published on 13 October 2020

List of works by Saima Riazuddin

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

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.

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

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

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

Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing

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

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

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

An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans

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

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

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

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

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

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

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

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Clinical manifestations of DFNB29 deafness

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

DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.

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

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

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

Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma

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

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

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

FUT2 Variants Confer Susceptibility to Familial Otitis Media

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

GNAT1 associated with autosomal recessive congenital stationary night blindness

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss

Genetic modifiers of hereditary hearing loss

Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

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

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

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

Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss

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

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

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

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

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

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

MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin

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

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

Molecular and clinical studies of X-linked deafness among Pakistani families

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

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

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

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

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

Mutation of ATF6 causes autosomal recessive achromatopsia

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

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

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

Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

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

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

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

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

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

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

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

Mutations of MYO6 are associated with recessive deafness, DFNB37

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

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

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

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

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

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

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