Nature Search

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

Zil-e-Huma Bashir
Noreen Latief
Saima Riazuddin
Amendments and Corrections25 Sept 2013
Journal of Human Genetics

Volume: 58, P: 641
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Zubair Ahmed and colleagues identify homozygous mutations in CIB2, a gene that encodes a calcium- and integrin-binding protein, that cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. CIB2 is required for hair cell development and retinal photoreceptor cells in zebrafish and Drosophila melanogaster.

Saima Riazuddin
Inna A Belyantseva
Zubair M Ahmed
Research30 Sept 2012
Nature Genetics

Volume: 44, P: 1265-1271
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Daniel L. Polla
Mohammad Ali Farazi Fard
Hans van Bokhoven
Research06 Apr 2021
Genetics in Medicine

Volume: 23, P: 1246-1254
Molecular and clinical studies of X-linked deafness among Pakistani families

Ali M Waryah
Zubair M Ahmed
Saima Riazuddin
Research02 Jun 2011
Journal of Human Genetics

Volume: 56, P: 534-540
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Hannie Kremer and colleagues report the identification of mutations in LROMT associated with profound nonsyndromic hearing loss. LRTOMT has two alternative reading frames and encodes two different proteins, LRTOMT1 and LRTOMT2.

Zubair M Ahmed
Saber Masmoudi
Hannie Kremer
Research26 Oct 2008
Nature Genetics

Volume: 40, P: 1335-1340
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

Saima Anwar
Saima Riazuddin
Sheikh Riazuddin
Research13 Mar 2009
Journal of Human Genetics

Volume: 54, P: 266-270
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function

Age-related macular degeneration (AMD) has been connected to deficits in autophagy. Here, the authors demonstrate, in mice and dry-AMD patient samples, that calcium and integrin binding protein 2 (CIB2) regulates Rheb-mTORC1 signaling axis, and subsequently autophagy.

Saumil Sethna
Patrick A. Scott
Zubair M. Ahmed
ResearchOpen Access23 Jun 2021
Nature Communications

Volume: 12, P: 1-19
Dominant modifier DFNM1 suppresses recessive deafness DFNB26

Saima Riazuddin
Caley M. Castelein
Edward R. Wilcox
Research01 Dec 2000
Nature Genetics

Volume: 26, P: 431-434
Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Atteeq U Rehman
Regie Lyn P Santos-Cortez
Suzanne M Leal
Research10 Dec 2014
European Journal of Human Genetics

Volume: 23, P: 1207-1215
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Peter's Anomaly is a developmental disorder of the eye and has been linked to mutations in a range of genes, including the transcription factor FOXE3. Here the authors use next-generation RNA sequencing and mass spectrometry to identify an autophagy-associated protein, DNAJB1 as the transcriptional target of FOXE3.

Shahid Y. Khan
Shivakumar Vasanth
S. Amer Riazuddin
ResearchOpen Access06 Apr 2016
Nature Communications

Volume: 7, P: 1-15
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

Kiyoto Kurima
Linda M. Peters
Andrew J. Griffith
Research19 Feb 2002
Nature Genetics

Volume: 30, P: 277-284
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma

Bushra Rauf
Shahid Y. Khan
S. Amer Riazuddin
ResearchOpen Access14 Oct 2022
Scientific Reports

Volume: 12, P: 1-9
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

Zil-e-Huma Bashir
Noreen Latief
Saima Riazuddin
Research13 Dec 2012
Journal of Human Genetics

Volume: 58, P: 102-108
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

Bushra Irum
Firoz Kabir
S. Amer Riazuddin
ResearchOpen Access08 Sept 2022
Human Genome Variation

Volume: 9, P: 1-3
Whole genome sequencing data of multiple individuals of Pakistani descent

Shahid Y. Khan
Muhammad Ali
S. Amer Riazuddin
ResearchOpen Access13 Oct 2020
Scientific Data

Volume: 7, P: 1-9
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Muhammad Ansar
Saima Riazuddin
Stylianos E Antonarakis
ResearchOpen Access24 Aug 2017
Genetics in Medicine

Volume: 20, P: 778-784
Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Raheela Nadeem
Firoz Kabir
S. Amer Riazuddin
ResearchOpen Access12 May 2020
Human Genome Variation

Volume: 7, P: 1-4
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Marcello Scala
Geok Lin Chua
David L. Silver
Research22 Jun 2020
European Journal of Human Genetics

Volume: 28, P: 1509-1519
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

Amama Ghaffar
Faiza Rasheed
Saima Riazuddin
Research08 Nov 2021
European Journal of Human Genetics

Volume: 30, P: 243-247
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

Zafar Iqbal
Hasan Tawamie
Rami Abou Jamra
Research04 Jan 2019
Genetics in Medicine

Volume: 21, P: 1790-1796
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes

M Hashim Raza
Carlos E F Domingues
Dennis Drayna
Research01 Jul 2015
European Journal of Human Genetics

Volume: 24, P: 529-534
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

Mounira Hmani-Aifa
Zeineb Benzina
Hammadi Ayadi
Research15 Oct 2008
European Journal of Human Genetics

Volume: 17, P: 474-482
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Zafar Iqbal
Mohsin Shahzad
Sheikh Riazuddin
Research19 Dec 2012
European Journal of Human Genetics

Volume: 21, P: 844-849
Whole genome sequencing data for two individuals of Pakistani descent

Shahid Y. Khan
Firoz Kabir
S. Amer Riazuddin
ResearchOpen Access11 Sept 2018
Scientific Data

Volume: 5, P: 1-6
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

neuron navigator-3 (NAV3) is involved in neuronal morphogenesis, vision, and neuromuscular responses, and the biallelic/mono-allelic variants of NAV3 are causative of a spectrum of neurodevelopmental disorders

Amama Ghaffar
Tehmeena Akhter
Saima Riazuddin
ResearchOpen Access08 Jul 2024
Communications Biology

Volume: 7, P: 1-13
Erratum: Molecular and clinical studies of X-linked deafness among Pakistani families

Ali M Waryah
Zubair M Ahmed
Saima Riazuddin
Amendments and Corrections25 Oct 2011
Journal of Human Genetics

Volume: 56, P: 752
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

Inayat Ullah
Firoz Kabir
S Amer Riazuddin
ResearchOpen Access17 Nov 2016
Human Genome Variation

Volume: 3, P: 1-4
A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

Bushra Rauf
Bushra Irum
S Amer Riazuddin
ResearchOpen Access04 Aug 2016
Human Genome Variation

Volume: 3, P: 1-4
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

Shahid Yar Khan
Saima Riazuddin
Thomas B Friedman
Research15 Jul 2009
European Journal of Human Genetics

Volume: 18, P: 125-129
A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)

Erin M. Andres
Huma Hafeez
Muhammad Hashim Raza
Research11 Apr 2019
European Journal of Human Genetics

Volume: 27, P: 1274-1285
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

Zafar Iqbal
Lucia Püttmann
Hans van Bokhoven
Research15 Jul 2015
European Journal of Human Genetics

Volume: 24, P: 392-399

Search

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

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

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

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

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

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

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

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

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

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

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

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma

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

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

Whole genome sequencing data of multiple individuals of Pakistani descent

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

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

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

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

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Whole genome sequencing data for two individuals of Pakistani descent

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

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

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

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

A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

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