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

Scientific reports, 2021-03, Vol.11 (1), p.6952-6952, Article 6952

2021

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Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome

Pediatric reports, 2020-12, Vol.13 (1), p.9-14

2020

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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.753-760

2015

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New translocation in acute myeloid leukemia M4 eos

Leukemia research reports, 2020-01, Vol.14, p.100209-100209, Article 100209

2020

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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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Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient

Clinical case reports, 2019-06, Vol.7 (6), p.1149-1153

2019

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Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e820-n/a

2019

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Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

Case reports in genetics, 2017-01, Vol.2017 (2017), p.1-4

2017

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Elucidating the spectrum of alpha-thalassemia mutations in Iran

Haematologica (Roma), 2007-07, Vol.92 (7), p.992-993

2007

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Evaluating the Plausibility of Euploid Embryos Transfer on Day-5 by Reanalysis of Day-3 Single Aneuploid Embryos: A Case Series

Faṣlnāmah-i pizishkī-i bārvar va nābārvar, 2024-01, Vol.25 (1), p.56

2024

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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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5p13 microduplication in a malformed fetus and his unaffected father

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.370-377

2023

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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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Genotype–phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams‐Beuren syndrome

Annals of human genetics, 2018-11, Vol.82 (6), p.469-476

2018

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

European journal of human genetics : EJHG, 2024-10, Vol.32 (10), p.1238-1249

2024

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A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

American journal of human genetics, 2008-05, Vol.82 (5), p.1158-1164

2008

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Frequency of Sperm Aneuploidy in Oligoasthenoteratozoospermic (OAT) Patients by Comprehensive Chromosome Screening: A Proof of Concept

Faṣlnāmah-i pizishkī-i bārvar va nābārvar, 2021-01, Vol.22 (1), p.57

2021

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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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Evaluation and Report of Array-CGH Utility in prenatal and postnatal diagnosis and abortion products referred to a Diagnostic Laboratory in Tehran

Dānishnāmah-i Ṣārim (Online), 2021-10, Vol.6 (3), p.135-141

2021

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De-novo interstitial 2.33 Mb deletion in 8q24.3: new insights on a very rare partial monosomy syndrome

Clinical dysmorphology, 2018-07, Vol.27 (3), p.97-100

2018

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Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.555-560

2011

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Reply to 5q35 duplication and Hunter-McAlpine syndrome: Missing the link

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.804-804

2010

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

European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.115-117

2011

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High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Human mutation, 2011-12, Vol.32 (12), p.1427-1435

2011

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Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings

Gene, 2013-03, Vol.517 (1), p.137-145

2013

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

Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

New translocation in acute myeloid leukemia M4 eos

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

Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient

Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases

Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

Elucidating the spectrum of alpha-thalassemia mutations in Iran

Evaluating the Plausibility of Euploid Embryos Transfer on Day-5 by Reanalysis of Day-3 Single Aneuploid Embryos: A Case Series

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

5p13 microduplication in a malformed fetus and his unaffected father

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Genotype–phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams‐Beuren syndrome

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

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

Frequency of Sperm Aneuploidy in Oligoasthenoteratozoospermic (OAT) Patients by Comprehensive Chromosome Screening: A Proof of Concept

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

Evaluation and Report of Array-CGH Utility in prenatal and postnatal diagnosis and abortion products referred to a Diagnostic Laboratory in Tehran

De-novo interstitial 2.33 Mb deletion in 8q24.3: new insights on a very rare partial monosomy syndrome

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18

Reply to 5q35 duplication and Hunter-McAlpine syndrome: Missing the link

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

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings

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