Lista de obras -

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

artículo científico publicado en 2015

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2021

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Clinical manifestations of DFNB29 deafness

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 2018

FUT2 Variants Confer Susceptibility to Familial Otitis Media

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

artículo científico publicado en 2010

GNAT1 associated with autosomal recessive congenital stationary night blindness

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss

artículo científico publicado en 2013

Genetic modifiers of hereditary hearing loss

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2015

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Mutations of MYO6 are associated with recessive deafness, DFNB37

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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

artículo científico

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 2016

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 ⬇️

artículo científico publicado el 21 de octubre de 2003

Phenotypic variability associated with the D226N allele of IMPDH1.

artículo científico publicado en 2014

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

artículo científico publicado el 13 de diciembre de 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.

artículo científico publicado en 2015

Rare A2ML1 variants confer susceptibility to otitis media

artículo científico publicado en 2015

Recent advances in the understanding of syndromic forms of hearing loss

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2006

Tricellulin deficiency affects tight junction architecture and cochlear hair cells.

artículo científico publicado en 2013

Tricellulin is a tight-junction protein necessary for hearing

artículo científico publicado en 2006

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

artículo científico publicado el 21 de junio de 2012

Usher proteins in inner ear structure and function

artículo científico publicado en 2013

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2024

Whole genome sequencing data of multiple individuals of Pakistani descent

scientific article published on 13 October 2020

Lista de obras de

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