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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, p.2706098-4

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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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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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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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

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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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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Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia

Human mutation, 2007-09, Vol.28 (9), p.874-881

2007

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Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1544-1549

2009

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Fourteen-Year Experience of Prenatal Diagnosis of Thalassemia in Iran

Community genetics, 2006-01, Vol.9 (2), p.93-97

2006

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Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population

Archives of Iranian medicine, 2014-07, Vol.17 (7), p.471

2014

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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

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

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

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

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia

Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis

Fourteen-Year Experience of Prenatal Diagnosis of Thalassemia in Iran

Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population

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