Nature Search

Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population

Ali Khanbazi
Maryam Beheshtian
Hossein Najmabadi
ResearchOpen Access02 Dec 2024
Scientific Reports

Volume: 14, P: 1-11
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

Ayda Abolhassani
Zohreh Fattahi
Hossein Najmabadi
ResearchOpen Access19 Feb 2024
npj Genomic Medicine

Volume: 9, P: 1-11
Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi
Hao Hu
H. Hilger Ropers
Research21 Sept 2011
Nature

Volume: 478, P: 57-63
Genetics of intellectual disability in consanguineous families

Hao Hu
Kimia Kahrizi
Hossein Najmabadi
Research04 Jan 2018
Molecular Psychiatry

Volume: 24, P: 1027-1039
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

Kimia Najafi
Zohreh Mehrjoo
Hossein Najmabadi
ResearchOpen Access26 Mar 2021
Scientific Reports

Volume: 11, P: 1-12
POLRMT mutations impair mitochondrial transcription causing neurological disease

POLRMT is key for transcription of the mitochondrial genome, yet has not been implicated in mitochondrial disease to date. Here, the authors identify mutations in POLRMT in individuals with mitochondrial disease-related phenotypes and characterise underlying defects in mitochondrial transcription.

Monika Oláhová
Bradley Peter
Robert W. Taylor
ResearchOpen Access18 Feb 2021
Nature Communications

Volume: 12, P: 1-13
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

Marzieh Mohseni
Mojdeh Akbari
Hossein Najmabadi
Research30 Mar 2020
Journal of Human Genetics

Volume: 65, P: 609-617
A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

Farzaneh Larti
Kimia Kahrizi
Hossein Najmabadi
Research26 Feb 2014
European Journal of Human Genetics

Volume: 23, P: 331-336
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Frameshift mutations that create arginine-rich basic tails in transcription factors and other proteins can lead to altered phase separation in the nucleolus, which in turn leads to syndromes such as brachyphalangy, polydactyly and tibial aplasia.

Martin A. Mensah
Henri Niskanen
Denes Hnisz
ResearchOpen Access08 Feb 2023
Nature

Volume: 614, P: 564-571
Genomics of rare diseases in the Greater Middle East

The Greater Middle East is home to a rich genetic diversity that remains largely untapped in genomic research. This Perspective explores its potential for rare disease research, obstacles limiting progress and strategies to drive genomic discoveries.

Ikram Chekroun
Shruti Shenbagam
Ahmad N. Abou Tayoun
Reviews03 Feb 2025
Nature Genetics

Volume: 57, P: 505-514
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

Lia Abbasi Moheb
Andreas Tzschach
Andreas Walter Kuss
Research28 Nov 2007
European Journal of Human Genetics

Volume: 16, P: 270-273
Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

Zohreh Fattahi
Parvin Rostami
Hossein Najmabadi
Research22 May 2014
Journal of Human Genetics

Volume: 59, P: 368-375
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Taimoor I. Sheikh
Nasim Vasli
John B. Vincent
ResearchOpen Access05 Jan 2021
Translational Psychiatry

Volume: 11, P: 1-13
Erratum: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

Farzaneh Larti
Kimia Kahrizi
Hossein Najmabadi
Amendments and Corrections12 Feb 2015
European Journal of Human Genetics

Volume: 23, P: 416
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Kimia Kahrizi
Cougar Hao Hu
Andreas Tzschach
Research11 Aug 2010
European Journal of Human Genetics

Volume: 19, P: 115-117
A novel DFNA5 mutation does not cause hearing loss in an Iranian family

Lut Van Laer
Nicole C. Meyer
Richard J. H. Smith
Research11 Apr 2007
Journal of Human Genetics

Volume: 52, P: 549-552
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Kimia Kahrizi
Hossein Najmabadi
Andreas Tzschach
Research10 Sept 2008
European Journal of Human Genetics

Volume: 17, P: 125-128
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
Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing

Maryam Sotoudeh Anvari
Hamed Vasei
Seyed Javad Mowla
ResearchOpen Access23 Mar 2022
Scientific Reports

Volume: 12, P: 1-11
Redefining the MED13L syndrome

Abidemi Adegbola
Luciana Musante
Vera M Kalscheuer
Research11 Mar 2015
European Journal of Human Genetics

Volume: 23, P: 1308-1317
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies

Parisa Vaseghi
Laleh Habibi
Ali Rashidi-Nezhad
Research26 Jan 2024
European Journal of Human Genetics

Volume: 32, P: 1238-1249
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

Hassan Vahidnezhad
Leila Youssefian
Jouni Uitto
ResearchOpen Access10 Dec 2020
Scientific Reports

Volume: 10, P: 1-10
Genetic male infertility and mutation of CATSPER ion channels

Michael S Hildebrand
Matthew R Avenarius
Richard J H Smith
Reviews21 Jul 2010
European Journal of Human Genetics

Volume: 18, P: 1178-1184

Search

Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Genetics of intellectual disability in consanguineous families

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

POLRMT mutations impair mitochondrial transcription causing neurological disease

When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Genomics of rare diseases in the Greater Middle East

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Erratum: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

A novel DFNA5 mutation does not cause hearing loss in an Iranian family

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

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

Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing

Redefining the MED13L syndrome

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

Genetic male infertility and mutation of CATSPER ion channels

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