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Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

Cell journal (Yakhteh), 2019-10, Vol.21 (3), p.337-349

2019

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Nature (London), 2011-10, Vol.478 (7367), p.57-63

2011

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ANXA1 with Anti‐Inflammatory Properties Might Contribute to Parkinsonism

Annals of neurology, 2021-08, Vol.90 (2), p.319-323

2021

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COL18A1 is a candidate eye iridocorneal angle-closure gene in humans

Human molecular genetics, 2018-11, Vol.27 (21), p.3772-3786

2018

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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

American journal of human genetics, 2020-08, Vol.107 (2), p.364-373

2020

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A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family

Gene, 2018-06, Vol.659, p.160-167

2018

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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Npj genomic medicine, 2021-11, Vol.6 (1), p.94-94, Article 94

2021

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Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

Archives of medical science, 2011-04, Vol.7 (2), p.321-325

2011

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Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

Molecular syndromology, 2020-06, Vol.11 (2), p.62-72

2020

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M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism

European journal of medical genetics, 2008-11, Vol.51 (6), p.608-614

2008

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Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3223-3226

2008

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Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

International journal of molecular and cellular medicine, 2016, Vol.5 (4), p.236-245

2016

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Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability

Gene, 2020-07, p.144918-144918, Article 144918

2020

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CNV Analysis Using Multiplex Ligation-Dependent Probe Amplification in Iranian Families with Non-Syndromic Congenital Heart Defects: Early Diagnosis of Non-Syndromic Patients

International journal of medical laboratory, 2022-04

2022

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Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

Human mutation, 2016-11, Vol.37 (11), p.1180-1189

2016

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Brain (London, England : 1878), 2021-06, Vol.144 (5), p.1422-1434

2021

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A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

Molecular neurobiology, 2018-04, Vol.55 (4), p.3477-3489

2018

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A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family

Cell journal (Yakhteh), 2019-04, Vol.21 (1), p.70-77

2019

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Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism: HUMAN MUTATION

Human mutation, 2016-11, Vol.37 (11), p.1180-1189

2016

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Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome

Molecular neurobiology, 2017-11, Vol.54 (9), p.7019-7027

2017

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Cover Image, Volume 37, Issue 11

Human mutation, 2016-11, Vol.37 (11), p.i-i

2016

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Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

ANXA1 with Anti‐Inflammatory Properties Might Contribute to Parkinsonism

COL18A1 is a candidate eye iridocorneal angle-closure gene in humans

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism

Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation

Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications

Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability

CNV Analysis Using Multiplex Ligation-Dependent Probe Amplification in Iranian Families with Non-Syndromic Congenital Heart Defects: Early Diagnosis of Non-Syndromic Patients

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism: HUMAN MUTATION

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome

Cover Image, Volume 37, Issue 11

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