H. Najmabadi

Y. Riazalhosseini, H. Najmabadi, H. Mostafavi, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Diagnostic pitfalls of less well recognized HbH disease.

S. Farashi, H. Najmabadi, 2015, Blood cells, molecules & diseases.

Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions

C. Farra, V. Viprakasit, H. Najmabadi, 2007, Clinical chemistry and laboratory medicine.

Investigation of the Relationship Between a Genetic Polymorphism in ACTN3 and Elite Sport Performance Among Iranian Soccer Players

S. Irani, H. Najmabadi, M. Mohseni, 2017 .

Prevalence of ACTN3 (the athlete gene) R577X polymorphism in Iranian population

H. Najmabadi, Z. Fattahi, 2012, Iranian Red Crescent medical journal.

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

D. Horn, K. Dahan, M. Holder-Espinasse, 2009, Human mutation.

Novel mutations in the calreticulin gene core promoter and coding sequence in schizoaffective disorder

H. Najmabadi, A. Asgharian, M. Karimlou, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).

J. Hardy, H. Najmabadi, P. Pasalar, 2002, Neurology.

Homozygous THAP1 mutations as cause of early‐onset generalized dystonia

S. Schneider, N. Brüggemann, K. Lohmann, 2011, Movement disorders : official journal of the Movement Disorder Society.

Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation.

H. Najmabadi, A. Azarkeivan, M. Neishabury, 2010, Blood cells, molecules & diseases.

Molecular mechanisms underlying thalassemia intermedia in Iran.

H. Najmabadi, C. Oberkanins, N. Amirizadeh, 2008, Genetic testing.

Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes

H. Najmabadi, Z. Fattahi, A. Azarkeivan, 2020, Haematologica.

The Role of BCL11A and HBS1L-MYB Polymorphisms in Predicting Blood Transfusion Requirements of Thalassemia Patients with Homozygous 5’HS4-LCR/Xmn1-HBG2 Background

H. Najmabadi, S. S. Abedini, A. Azarkeivan, 2015 .

Rede fi ning the MED 13 L syndrome

Steven P. Angus, T. Wienker, A. Chess, 2015 .

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

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

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2011, Archives of medical science : AMS.

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

H. Najmabadi, A. Azarkeivan, M. Neishabury, 2018, Blood cells, molecules & diseases.

ARHGEF9 disease

S. Scherer, C. Marshall, S. Walker, 2017, Neurology: Genetics.

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

L. Vissers, R. Pfundt, T. Wienker, 2015, European Journal of Human Genetics.

Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations.

H. Najmabadi, S. S. Abedini, C. Oberkanins, 2011, Blood cells, molecules & diseases.

Iranian hereditary hemochromatosis patients: Baseline characteristics, laboratory data and gene mutations

S. Fereshtehnejad, F. Zamani, H. Najmabadi, 2012, Medical Science Monitor : International Medical Journal of Experimental and Clinical Research.

Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

S. Fereshtehnejad, F. Zamani, H. Najmabadi, 2012, Medical science monitor : international medical journal of experimental and clinical research.

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

H. Najmabadi, F. Fatehi, Ramona Haji-Seyed-Javadi, 2020, Journal of Assisted Reproduction and Genetics.

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

D. Stephan, M. Bahlo, K. Kahrizi, 2010, Clinical genetics.

Association of the dopamine transporter gene (DAT1) core promoter polymorphism −67T variant with schizophrenia

H. Najmabadi, M. Garshasbi, M. Ohadi, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Ursodiol does not prevent hepatic venoocclusive disease associated with Mylotarg therapy

H. Najmabadi, A. Tabarroki, P. Vosough, 2002 .

THE β-THALASSEMIA MUTATION SPECTRUM IN THE IRANIAN POPULATION

F. Pourfarzad, S. Teimourian, H. Najmabadi, 2001, Hemoglobin.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

D. Misceo, C. Venditti, R. Wevers, 2022, Brain : a journal of neurology.

Thalassemia in Iran: Epidemiology, Prevention, and Management

M. Radfar, H. Najmabadi, S. Zeinali, 2007, Journal of pediatric hematology/oncology.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

K. Kahrizi, H. Najmabadi, C. Nishimura, 2009, European Journal of Pediatrics.

((RPH6HTXHQFLQJDQG/LQNDJH$QDO\VLV,GHQWLøHG1RYHO Candidate Genes in Recessive Intellectual Disability Associated with Ataxia

T. Wienker, H. Najmabadi, Hao Hu, 2015 .

Molecular analysis of the neuronal apoptosis inhibitory protein gene in families with spinal muscular atrophy.

H. Najmabadi, I. Salahshourifar, Y. Shafeghati, 2007, Archives of Iranian medicine.

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

H. Ropers, D. Wieczorek, A. Tzschach, 2011, Human Genetics.

POLRMT mutations impair mitochondrial transcription causing neurological disease

Robert W. Taylor, M. Tarnopolsky, H. Ropers, 2021, Nature Communications.

Genetic investigation in a patient with Angelman Syndrome using MLPA and array CGH techniques

H. Najmabadi, Navid Almadani, F. Behjati, 2012 .

LRP 6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors

S. Mane, R. Lifton, C. Nelson-Williams, 2008 .

Investigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss

K. Kahrizi, H. Najmabadi, M. Babanejad, 2015 .

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

H. Ropers, A. Tzschach, K. Kahrizi, 2008, European Journal of Human Genetics.

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

E. Tizzano, K. Kahrizi, H. Najmabadi, 2010, European journal of neurology.

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

A. Kariminejad, H. Najmabadi, Richard J. H. Smith, 2019, Iranian journal of public health.

Carrier Detection in a Normal Individual for 69 Genes Involved in Familial Cancer Syndromes Using Whole Exome Sequencing

K. Kahrizi, H. Najmabadi, M. Akbari, 2015 .

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

J. Vincent, T. Wienker, H. Ropers, 2018, Human molecular genetics.

Hb Dhonburi (Neapolis) [β126(H4)Val→Gly] Identified in a Family from Northern Iran

K. Kahrizi, H. Najmabadi, C. Oberkanins, 2004, Hemoglobin.

A splice-altering variant in LARP7 gene leads to exon exclusion

K. Kahrizi, H. Najmabadi, M. Hosseini, 2019, Gene Reports.

Heterozygosity for the Novel HBA2: c.*91_*92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran

H. Najmabadi, zhila ghaderi, Fatemeh Forouzesh Pour, 2020, Hemoglobin.

G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2019, International journal of pediatric otorhinolaryngology.

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

H. Najmabadi, R. Kariminejad, M. Bazrgar, 2019, Molecular genetics & genomic medicine.

Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2019, Archives of Iranian medicine.

Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population

S. Farashi, H. Najmabadi, S. S. Abedini, 2018, Hemoglobin.

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

A. Kariminejad, F. Javadi, H. Najmabadi, 2017, Archives of Iranian medicine.

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2016, Journal of Genetics.

First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain

S. Farashi, H. Najmabadi, A. Azarkeivan, 2016, Hemoglobin.

Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population

S. Farashi, H. Najmabadi, A. Azarkeivan, 2016, Hemoglobin.

Copy number variations of six and seven α-globin genes in a family with intermedia and major thalassemia phenotypes

S. Farashi, H. Najmabadi, A. Azarkeivan, 2015, Expert review of hematology.

Interaction of an α-Globin Gene Triplication with β-Globin Gene Mutations in Iranian Patients with β-Thalassemia Intermedia

S. Farashi, H. Najmabadi, S. Zeinali, 2015, Hemoglobin.

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II

K. Kahrizi, H. Najmabadi, Niloofar Bazazzadegan, 2014, Journal of Genetics.

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

R. Hennekam, A. Kariminejad, H. Najmabadi, 2014, The Journal of investigative dermatology.

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

A. Kariminejad, H. Najmabadi, F. Mojahedi, 2014, Archives of Iranian medicine.

Characterizing a Cohort of α-Thalassemia Couples Collected During Screening for Hemoglobinopathies: 14 Years of an Iranian Experience

N. Hafezi-Nejad, A. Kariminejad, H. Najmabadi, 2014, Hemoglobin.

Investigation of the asporin gene polymorphism as a risk factor for knee osteoarthritis in Iran.

H. Najmabadi, M. Babanejad, E. Bakhshi, 2013, American journal of orthopedics.

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

K. Kahrizi, H. Najmabadi, C. Nishimura, 2012, International journal of pediatric otorhinolaryngology.

Genotype-Phenotype Correlation In Iranian Patients With Hb H Disease

H. Najmabadi, C. Oberkanins, V. Hadavi, 2011, Hemoglobin.

Screening of Iranian Thalassemic Families for the Most Common Deletions of the β-Globin Gene Cluster

F. Pourfarzad, H. Najmabadi, Navid Almadani, 2007, Hemoglobin.

The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research

Mehrdad Mohammadi, K. Kahrizi, H. Najmabadi, 2003, Human mutation.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Transcriptional and posttranscriptional regulation of inhibin alpha-subunit gene expression in rat Sertoli cells by 8-bromo-3',5'-cyclic-adenosine monophosphate.

H. Burger, S. Bhasin, H. Najmabadi, 1993, Molecular endocrinology.

Transcriptional regulation of inhibin beta B messenger ribonucleic acid levels in TM.4 or primary rat Sertoli cells by 8-bromo-cyclic adenosine monophosphate.

S. Bhasin, H. Najmabadi, Q. Yuan, 1993, Molecular endocrinology.

No association between the DAT1 10‐repeat allele and ADHD in the Iranian population

H. Najmabadi, M. Ohadi, M. Banoei, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

PKD2 GENES BY LINKAGE ANALYSIS AND DETERMINING THE GENOTYPEIPHENOTYPE CORRELATIONS IN SEVERAL IRANIAN FAMILIES WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

H. Najmabadi, R. Radpour, M. Ohadi, 2011 .

A mutation in the calreticulin gene promoter in a family case of schizoaffective disorder leads to its aberrant transcriptional activation

H. Najmabadi, A. Aghajani, M. Ohadi, 2008, Brain Research.

Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events.

S. Chong, H. Najmabadi, M. Steinberg, 2006, Haematologica.

Determining the cause of patchwork HBA 1 and HBA 2 genes : recurrent gene

S. Chong, H. Najmabadi, M. Steinberg, 2006 .

Mutation analysis of the DBC2 gene in sporadic and familial breast cancer

A. Lindblom, H. Najmabadi, M. Totonchi, 2007, Acta oncologica.

Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.

J. Uitto, A. Kariminejad, H. Najmabadi, 2016, The Journal of investigative dermatology.

Hydroxyurea responsiveness in β-thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity

F. Grosveld, S. Philipsen, F. Pourfarzad, 2013, Haematologica.

A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function

L. Tarantino, T. Wiltshire, U. Müller, 2007, The Journal of Neuroscience.

Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy.

P. Yen, H. Najmabadi, D. D. de Kretser, 1996, The Journal of clinical endocrinology and metabolism.

SUBMICROSCOPIC DELETIONS OF THE Y CHROMOSOME ARE NOT LIMITED TO AZOOSPERMIC MEN, BUT ARE ALSO DETECTED IN INFERTILE MEN WITH IDIOPATHIC OLIGOZOOSPERMIA

S. Arver, S. Bhasin, H. Najmabadi, 2000 .

Genomic structure of a Y-specific ribonucleic acid binding motif-containing gene: a putative candidate for a subset of male infertility.

P. Yen, S. Bhasin, H. Najmabadi, 1996, The Journal of clinical endocrinology and metabolism.

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

H. Najmabadi, M. New, R. Wilson, 2007, Molecular genetics and metabolism.

Novel Mutations Responsible for α-Thalassemia in Iranian Families

N. Hafezi-Nejad, S. Farashi, H. Najmabadi, 2013, Hemoglobin.

α-Thalassemia Mutations in Khuzestan Province, Southwest Iran

N. Hafezi-Nejad, H. Najmabadi, C. Oberkanins, 2008, Hemoglobin.

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

Y. Riazalhosseini, K. Kahrizi, H. Najmabadi, 2005, Journal of Medical Genetics.

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2015, Archives of Iranian medicine.

THE DIAGNOSTIC VALUE OF UTROPHIN IN MILD DYSTROPHINOPATHY (BECKER MUSCULAR DYSTROPHY)

K. Kahrizi, H. Najmabadi, M. Banan, 2010 .

β-Thalassemia Mutations in the Kurdish Population of Northeastern Iraq

H. Najmabadi, N. Al-Allawi, S. Jalal, 2010, Hemoglobin.

DETECTION OF RARE AND UNKNOWN MUTATIONS IN β- TALASSEMIA TRAITS IN IRAN

H. Najmabadi, Mehryar Habibi Roudkenar, D. Farhoud, 2003 .

Detection of Rare and Unknown Mutations in ß- tathalassemia Traits

H. Najmabadi, P. Derakhshandeh, M. H. Roudknar, 2003 .

The Effect of Xmn -1 Polymorphism and Coinheritance of Alpha Mutations on Age at First Blood Transfusion in Iranian Patients with Homozygote IVSI-5 Mutation

H. Najmabadi, A. Azarkeivan, M. Hashemieh, 2022, International journal of hematology-oncology and stem cell research.

The Effect of Xmn1 Gene Polymorphism on Blood Transfusion Dependency and Hemoglobin Concentration among Iranian Thalassemia Patients with IVSII-1 Mutation

H. Najmabadi, K. Sheibani, A. Azarkeivan, 2019, Iranian Journal of Pediatric Hematology & Oncology.

The Spectrum of α-Thalassemia Mutations in the Kurdish Population of Northeastern Iraq

H. Najmabadi, N. Al-Allawi, S. Jalal, 2013, Hemoglobin.

α-Thalassemia Mutations in Gilan Province, North Iran

N. Hafezi-Nejad, H. Najmabadi, C. Oberkanins, 2009, Hemoglobin.

α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran

H. Najmabadi, Navid Almadani, C. Oberkanins, 2009, Hemoglobin.

Prenatal Diagnosis for β-Thalassemia Major in the Iranian Province of Hormozgan

H. Najmabadi, V. Hadavi, M. Rajaei, 2008, Hemoglobin.

Elucidating the spectrum of α-thalassemia mutations in Iran

H. Najmabadi, Navid Almadani, C. Oberkanins, 2007 .

High Prevalence of the −α3.7 Deletion Among Thalassemia Patients in Iran

K. Kahrizi, H. Najmabadi, A. Pourfathollah, 2003 .

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

S. Leal, D. Stephan, M. Schiller, 2011, American journal of human genetics.

Molecular Characterization of α-Thalassemia in the Dohuk Region of Iraq

H. Najmabadi, N. Al-Allawi, A. Badi, 2009, Hemoglobin.

cAMP response element‐binding protein 1 is required for hydroxyurea‐mediated induction of γ‐globin expression in K562 cells

S. Philipsen, F. Pourfarzad, S. Farashi, 2012, Clinical and experimental pharmacology & physiology.

Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing.

H. Najmabadi, A. Pourfathollah, C. Oberkanins, 2002, Haematologica.

Elucidating the spectrum of alpha-thalassemia mutations in Iran.

H. Najmabadi, Navid Almadani, C. Oberkanins, 2007, Haematologica.

Genetics of Recessive Cognitive Disorders

K. Kahrizi, H. Najmabadi, 2015 .

NDST1 missense mutations in autosomal recessive intellectual disability

T. Wienker, A. Ekici, M. Reuter, 2014, American journal of medical genetics. Part A.

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

T. Haaf, R. Maroofian, A. Kariminejad, 2019, American journal of human genetics.

Effect of inbreeding on intellectual disability revisited by trio sequencing

T. Wienker, H. Ropers, V. Kalscheuer, 2018, Clinical genetics.

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

A. Noor, J. Vincent, R. Weksberg, 2011, American journal of human genetics.

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.

D. Stephan, L. Tarantino, T. Wiltshire, 2009, American journal of human genetics.

Cancer esearch cular and Cellular Pathobiology enetically Deregulated microRNA-375 Is Involved in a itive Feedback Loop with Estrogen Receptor α in R ast Cancer Cells

Ö. Sahin, J. Hoheisel, C. Croce, 2010 .

Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients

K. Kahrizi, H. Najmabadi, F. Peymani, 2019, Neuroscience.

FASN-Dependent Lipid Metabolism Links Neurogenic Stem/Progenitor Cell Activity to Learning and Memory Deficits.

Baptiste N. Jaeger, G. Kempermann, B. Jaeger, 2020, Cell stem cell.

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2019, International journal of pediatric otorhinolaryngology.

Exonic mutations and exon skipping: Lessons learned from DFNA5

K. Kahrizi, H. Najmabadi, K. Frees, 2018, Human mutation.

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

Y. Riazalhosseini, K. Kahrizi, H. Najmabadi, 2007, Journal of Human Genetics.

Genetics of non-syndromic hearing loss in the Middle East.

K. Kahrizi, H. Najmabadi, 2014, International journal of pediatric otorhinolaryngology.

Mutations on the α2-Globin Gene That May Trigger α+-Thalassemia

S. Farashi, H. Najmabadi, A. Azarkeivan, 2015, Hemoglobin.

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

T. Wienker, H. Stehr, H. Ropers, 2017, Human mutation.

Integrated Sequence Analysis Pipeline Provides One‐Stop Solution for Identifying Disease‐Causing Mutations

T. Wienker, H. Ropers, V. Kalscheuer, 2014, Human mutation.

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

H. Stehr, H. Ropers, A. Tzschach, 2013, American Journal of Medical Genetics. Part A.

ST3GAL3 mutations impair the development of higher cognitive functions.

Wei Chen, H. Ropers, A. Tzschach, 2011, American journal of human genetics.

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

A. Kariminejad, H. Najmabadi, S. Ghaderi-sohi, 2021, Scientific Reports.

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

Steve D. M. Brown, P. Avan, S. Picaud, 2017, EMBO molecular medicine.

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

Melanie Bahlo, Katherine R. Smith, P. Lockhart, 2011, Genome Biology.

Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability.

F. Bahrami, K. Kahrizi, H. Najmabadi, 2019, Archives of Iranian medicine.

A Report on 167 Cases of Array-Based Comparative Genomic Hybridization: Comparison with Previous Techniques

A. Kariminejad, H. Najmabadi, F. Behjati, 2012 .

Genetic male infertility and mutation of CATSPER ion channels

Marc Fellous, Jacques S Beckmann, J. Beckmann, 2010, European Journal of Human Genetics.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

J. Rosenfeld, J. Lupski, R. Gibbs, 2019, American journal of human genetics.

Reversion of the human calreticulin gene promoter to the ancestral type as a result of a novel psychosis-associated mutation

H. Najmabadi, M. Ohadi, A. Mirabzadeh, 2011, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

Genetic Studies in Intellectual Disability and Behavioral Impairment.

K. Kahrizi, H. Najmabadi, Hoda Mehregan, 2016, Archives of Iranian medicine.

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

H. Najmabadi, H. Ghaedi, H. Darvish, 2016, Molecular Neurobiology.

SLC52A2 mutations cause SCABD2 phenotype: A second report.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2018, International journal of pediatric otorhinolaryngology.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

G. Ravenscroft, N. Laing, A. Kariminejad, 2017, Brain : a journal of neurology.

PDZD7 and hearing loss: More than just a modifier

Allen C. Simpson, M. Schnieders, K. Kahrizi, 2015, American journal of medical genetics. Part A.

BOD1 Is Required for Cognitive Function in Humans and Drosophila

J. Swedlow, H. Scherthan, U. Felbor, 2016, PLoS genetics.

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

G. Koob, A. Roberts, L. Tarantino, 2008, Proceedings of the National Academy of Sciences.

GJB2 mutations in Iranians with autosomal recessive non‐syndromic sensorineural hearing loss

M. Farhadi, K. Kahrizi, H. Najmabadi, 2002, Human mutation.

Diagnostic values of GHSR DNA methylation pattern in breast cancer

Ö. Sahin, A. Gholami, Y. Riazalhosseini, 2012, Breast Cancer Research and Treatment.

Genetics of intellectual disability in consanguineous families

T. Wienker, Wei Chen, R. Herwig, 2019, Molecular Psychiatry.

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

T. Wienker, H. Ropers, K. Kahrizi, 2015, Archives of Iranian medicine.

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

Wei Chen, S. Lenzner, H. Ropers, 2007, Human Genetics.

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

J. Rivière, K. Boycott, J. Thevenon, 2017, Clinical genetics.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2015, International journal of pediatric otorhinolaryngology.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Thomas L Casavant, Todd E Scheetz, E Ann Black-Ziegelbein, 2014, American journal of human genetics.

Metabolic Syndrome—What We Know and What We Don't Know LPR6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors. Science 315: 1278–1282, 2007

S. Mane, R. Lifton, C. Nelson-Williams, 2007 .

Did the GJB2 35delG mutation originate in Iran?

K. Kahrizi, H. Najmabadi, C. Nishimura, 2011, American journal of medical genetics. Part A.

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

M. Farhadi, K. Kahrizi, H. Najmabadi, 2011, American journal of medical genetics. Part A.

A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote

R. Hennekam, A. Kariminejad, H. Najmabadi, 2020, Clinical genetics.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

Distinct genetic variation and heterogeneity of the Iranian population

R. Malekzadeh, F. Najafi, H. Poustchi, 2019, PLoS genetics.

Iranome: A catalog of genomic variations in the Iranian population

R. Malekzadeh, H. Poustchi, B. Timmermann, 2019, Human mutation.

LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors

Jayaram Radhakrishnan, Dan Wu, Shrikant Mane, 2007, Science.

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

K. Kahrizi, H. Najmabadi, C. Ogilvie, 2008, European journal of medical genetics.

Gene Panel Testing in Hereditary Breast Cancer.

R. Shirkoohi, H. Najmabadi, M. Sanati, 2020, Archives of Iranian medicine.

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization

H. Najmabadi, F. Behjati, R. Vameghi, 2013, Indian journal of human genetics.

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.

K. Kahrizi, H. Najmabadi, M. Akbari, 2015, Archives of Iranian medicine.

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

K. Kahrizi, H. Najmabadi, H. Azaiez, 2020, Journal of Human Genetics.

Genetic etiology of hearing loss in Iran

K. Kahrizi, H. Najmabadi, K. Booth, 2022, Human Genetics.

Linkage Analysis for Four Genes (GPSM2, MSRB3, SLC26A5,GRXCR1) in 100 Iranian Families with Autosomal Recessive Hearing Loss

K. Kahrizi, H. Najmabadi, M. Babanejad, 2016 .

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Allen C. Simpson, M. Farhadi, K. Kahrizi, 2015, Journal of Medical Genetics.

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families

K. Kahrizi, H. Najmabadi, M. Babanejad, 2015, Journal of Genetics.

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2016, Clinical genetics.

Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients

K. Kahrizi, H. Najmabadi, M. Beheshtian, 2022, Molecular genetics & genomic medicine.

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

T. Wienker, N. Galjart, H. Ropers, 2014, European Journal of Human Genetics.

University of Dundee BOD 1 Is Required for Cognitive Function in Humans and Drosophila

Seyed, H. Scherthan, U. Felbor, 2016 .

SZT2 mutation in a boy with intellectual disability, seizures and autistic features.

A. Kariminejad, H. Najmabadi, Z. Fattahi, 2019, European journal of medical genetics.

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

J. Vincent, C. Schwarzer, K. Girisha, 2021, Translational Psychiatry.

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

A. Kariminejad, H. Najmabadi, Z. Chavoshzadeh, 2019, Cell journal.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

L. Schaeffer, E. Goillot, A. Taly, 2013, PloS one.

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

F. Alkuraya, D. Wieczorek, S. Efthymiou, 2021, Journal of Molecular Medicine.

Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

K. Kahrizi, H. Najmabadi, Mostafa Saghi, 2022, BMC medical genomics.

Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing

H. Najmabadi, A. Azarkeivan, M. Neishabury, 2022, Archives of Iranian Medicine.

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2016, Neuromuscular Disorders.

Highly sensitive conventional PCR testing of free fetal DNA in maternal serum for non-invasive fetal sex determination

H. Najmabadi, M. Ohadi, L. A. Moheb, 2004 .

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

J. Lupski, R. Gibbs, D. Muzny, 2023, American journal of medical genetics. Part A.

NGLY1 deficiency: Novel variants and literature review.

R. Hennekam, A. Kariminejad, H. Najmabadi, 2021, European journal of medical genetics.

Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran

M. Nothnagel, F. Bahrami, K. Kahrizi, 2020, Clinical genetics.

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

J. Belmont, K. Devriendt, Z. Rahimi, 2012, Circulation research.

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

K. Kahrizi, H. Najmabadi, N. Dixon, 2008, American journal of medical genetics. Part A.

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

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2014, Journal of Human Genetics.

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Seth M. Kelly, H. Ropers, K. Moberg, 2011, Proceedings of the National Academy of Sciences.

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.

H. Ropers, A. Tzschach, K. Kahrizi, 2008, American journal of human genetics.

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

Benjamin R. Rost, H. Ropers, D. Schmitz, 2007, American journal of human genetics.

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus

Y. Riazalhosseini, K. Kahrizi, H. Najmabadi, 2007, American journal of medical genetics. Part A.

Association of AKT1 haplotype with the risk of schizophrenia in Iranian population

M. R. Sargolzaee, K. Arimura, H. Najmabadi, 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Detection of Human Papilloma Virus DNA Genotypes in oral squamous cell carcinoma

H. Najmabadi, M. Keikhaee, A. Moradi, 2005 .

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation

K. Kahrizi, H. Najmabadi, S. Esmaeili, 2018, Neuromuscular Disorders.

Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor alpha in breast cancer cells.

C. Croce, S. Volinia, Y. Riazalhosseini, 2010, Cancer research.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

J. Rosenfeld, M. Shaw, E. Haan, 2016, Molecular Psychiatry.

Core promoter STRs: novel mechanism for inter-individual variation in gene expression in humans.

S. Hosseinkhani, S. Farashi, H. Najmabadi, 2012, Gene.

Exceptional human core promoter nucleotide compositions.

H. Najmabadi, M. Karimlou, M. Ohadi, 2011, Gene.

miRNA mutations are not a common cause of deafness

D. Valle, P. D. Witmer, Shunbin Xu, 2010, American journal of medical genetics. Part A.

Human male infertility caused by mutations in the CATSPER1 channel protein.

K. Kahrizi, H. Najmabadi, M. Avenarius, 2009, American journal of human genetics.

CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2021, Archives of Iranian medicine.

Calpains: Diverse Functions but Enigmatic.

K. Kahrizi, H. Najmabadi, M. Hosseini, 2018, Archives of Iranian medicine.

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2009, BMJ Case Reports.

A novel polymorphic purine complex at the 1.5 kb upstream region of the human caveolin‐1 gene and risk of Alzheimer's disease; Extra‐short alleles and accumulated allele homozygosity

H. Najmabadi, K. Kamali, M. Ohadi, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.

Y. Raphael, M. Brilliant, S. Riazuddin, 2010, American journal of human genetics.

Prognostic value of chromosome 1 and 8 copy number in invasive ductal breast carcinoma among iranian women: An interphase FISH analysis

P. Mehdipour, H. Najmabadi, F. Behjati, 2008, Pathology & Oncology Research.

THE PREVALENCE OF HUMAN PAPILLOMA VIRUS (HPV)IN MALIGNANT CERVICAL LESION, USING MULTIPLEX PCR

H. Najmabadi, E. Keyhani, N. Kohannia, 2006 .

Detection of HER 2 Status in Breast Cancer : Comparison of

H. Najmabadi, S. S. Abedini, F. Behjati, 2014 .

Connexin-26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness in the Iranian population

Y. Riazalhosseini, M. Farhadi, K. Kahrizi, 2003 .

Intellectual Disability and Ataxia: Genetic Collisions.

K. Kahrizi, H. Najmabadi, S. Kazeminasab, 2018, Archives of Iranian medicine.

Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran

M. Farhadi, H. Najmabadi, A. Daneshi, 2011, The Journal of Laryngology & Otology.

Serotonin Transporter Polymorphism (5-HTTLPR) and Citalopram Effectiveness in Iranian Patients with Major Depressive Disorder

K. Kahrizi, H. Najmabadi, S. H. Gorgani, 2013, Iranian journal of psychiatry.

Genetic Investigation of an Iranian Supercentenarian by Whole Exome Sequencing.

K. Kahrizi, H. Najmabadi, M. Joghataei, 2015, Archives of Iranian medicine.

Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation

J. Mattick, G. Franco, N. Schonrock, 2020, bioRxiv.

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.

A. Noor, J. Vincent, R. Weksberg, 2009, American journal of human genetics.

CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation

H. Najmabadi, M. Rohani, B. Zamani, 2020, The International journal of neuroscience.

Association analysis of the dopamine transporter (DAT1)‐67A/T polymorphism in bipolar disorder

M. R. Sargolzaee, A. Javanbakht, H. Najmabadi, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families

K. Kahrizi, H. Najmabadi, Z. Fattahi, 2014, The Journal of Laryngology & Otology.

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

K. Kahrizi, H. Najmabadi, C. Nishimura, 2012, American journal of medical genetics. Part A.

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population

K. Kahrizi, H. Najmabadi, A. Shearer, 2012, American journal of medical genetics. Part A.

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

K. Kahrizi, H. Najmabadi, F. Mojahedi, 2012, International journal of pediatric otorhinolaryngology.

Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population

D. Stephan, J. Webster, M. Bahlo, 2010, The Annals of otology, rhinology, and laryngology.

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family

K. Kahrizi, H. Najmabadi, G. Van Camp, 2009, Journal of Medical Genetics.

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family

D. Stephan, J. Webster, M. Bahlo, 2009, American journal of medical genetics. Part A.

GJB2 mutations in Baluchi population

Y. Riazalhosseini, K. Kahrizi, H. Najmabadi, 2008, Journal of Genetics.

GJB2 mutations: Passage through Iran

Y. Riazalhosseini, M. Farhadi, K. Kahrizi, 2005, American journal of medical genetics. Part A.

The frequency of GJB2 mutations and the Δ (GJB6‐D13S1830) deletion as a cause of autosomal recessive non‐syndromic deafness in the Kurdish population

Y. Riazalhosseini, H. Najmabadi, C. Nishimura, 2004, Clinical genetics.

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

K. Kahrizi, H. Najmabadi, Richard J. H. Smith, 2018, Journal of Medical Genetics.

Variants in CIB2 cause DFNB48 and not USH1J

M. Tekin, A. El-Amraoui, D. Duman, 2018, Clinical genetics.

Archive of SID Molecular Analysis of Iranian Patients with Duchenne/Becker Muscular Dystrophies

F. Pourfarzad, H. Najmabadi, S. Zeinali, 2003 .

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

D. Stephan, J. Webster, M. Bahlo, 2009, The Laryngoscope.

A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (–TT)] in an Iraqi Kurd

H. Najmabadi, N. Al-Allawi, D. Chui, 2021, Hemoglobin.

C677T Methylentetrahydrofulate Reductase and Angiotensin Converting Enzyme Gene Polymorphisms in Patients with Alzheimer’s Disease in Iranian Population

M. Noroozian, H. Najmabadi, M. Keikhaee, 2006, Neurochemical Research.

Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population

M. Yaseri, H. Najmabadi, M. Akbari, 2016, Ophthalmic genetics.

Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.

A. Kariminejad, H. Najmabadi, Mana M Mehrjouy, 2015, Archives of Iranian medicine.

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

A. Kariminejad, K. Kahrizi, H. Najmabadi, 2020, Archives of Iranian medicine.

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability

H. Ropers, K. Kahrizi, H. Najmabadi, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.

K. Kahrizi, H. Najmabadi, Navid Almadani, 2009, Annals of the Academy of Medicine, Singapore.

Investigation of Genetic Causes of Intellectual Disability in Kerman Province, South East of Iran

K. Kahrizi, H. Najmabadi, H. Darvish, 2012, Iranian Red Crescent medical journal.

SARS‐CoV‐2 outbreak in Iran: The dynamics of the epidemic and evidence on two independent introductions

R. Malekzadeh, A. Abdollahi, K. Kahrizi, 2021, Transboundary and emerging diseases.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

A. Hoischen, Martin Kircher, D. Horn, 2023, Nature.

Fourteen-Year Experience of Prenatal Diagnosis of Thalassemia in Iran

H. Najmabadi, B. Modell, V. Hadavi, 2006, Public Health Genomics.

Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene

S. Farashi, H. Najmabadi, F. Zeinali, 2016, Hemoglobin.

Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Ménière's Disease.

M. Farhadi, K. Kahrizi, H. Najmabadi, 2020, Archives of Iranian medicine.

Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears

A. Kariminejad, H. Najmabadi, F. Fatehi, 2021, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)

M. Mroczek, H. Najmabadi, F. Fatehi, 2020, European journal of neurology.

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

H. Ropers, A. Tzschach, K. Kahrizi, 2009, European Journal of Human Genetics.

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis.

K. Kahrizi, H. Najmabadi, M. Omrani, 2021, Iranian biomedical journal.

Frequency of CCR5 Delta 32 Polymorphism and its Relation to Disease Progression in Iranian HIV-1 Positive Individuals

G. E. Djavid, H. Najmabadi, M. Foroughi, 2015 .

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.

H. Ropers, K. Kahrizi, H. Najmabadi, 2009, European journal of medical genetics.

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

Wei Chen, A. Tzschach, R. Ullmann, 2011, European Journal of Human Genetics.

A Novel Homozygous ATP8A2 Variant in a Patient With Phenotypic Features of Dysequilibrium Syndrome

N. Rezaei, H. Najmabadi, A. Saghazadeh, 2018 .

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.

K. Kahrizi, H. Najmabadi, P. Karimzadeh, 2022, Archives of Iranian medicine.

A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion

K. Kahrizi, H. Najmabadi, M. Omrani, 2021, The journal of gene medicine.

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

C. Métin, A. Munnich, J. Billard, 2020, Brain : a journal of neurology.

Skew in the human caveolin 1 gene upstream purine complex homozygote haplotype compartment in multiple sclerosis

H. Najmabadi, M. Karimlou, D. Farhud, 2009, Journal of Neuroimmunology.

Classification of Neuromuscular Disorders Based an Clinical Criteria , Molocular and Immunohistochemisty Analysis in Tehran Pateints

K. Kahrizi, H. Najmabadi, M. Hassanzad, 2005 .

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

Wolfgang Müller-Felber, Heinz Wiendl, Sabine Krause, 2003, Neuromuscular Disorders.

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis

H. Najmabadi, M. Mohseni, M. Beheshtian, 2016, Iranian biomedical journal.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

J. Vincent, H. Stehr, H. Ropers, 2015, Human molecular genetics.

The First Case of BENTA Disease (B Cell Expansion with NF-κB and T Cell Anergy) from Iran

H. Najmabadi, A. Azarkeivan, M. Neishabury, 2021, Journal of Clinical Immunology.

Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease

H. Najmabadi, S. S. Abedini, K. Kamali, 2015, Medical Principles and Practice.

Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations

A. Farhadi, H. Ropers, K. Kahrizi, 2013, Clinical genetics.

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

H. Ropers, A. Tzschach, K. Kahrizi, 2010, Journal of Medical Genetics.

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

S. Mowla, H. Najmabadi, Samira Mohammadi-Yeganeh, 2021, Scientific Reports.

S0022215110002999jra 455..459

M. Farhadi, H. Najmabadi, A. Daneshi, 2011 .

Gender dimorphism in the DAT1 −67 T-allele homozygosity and predisposition to bipolar disorder

M. R. Sargolzaee, A. Javanbakht, H. Najmabadi, 2007, Brain Research.

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus

K. Kahrizi, H. Najmabadi, N. Meyer, 2010, Clinical genetics.

A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.

K. Kahrizi, H. Najmabadi, R. Najafipour, 2020, European journal of medical genetics.

The PTRHD1 Mutation in Intellectual Disability.

K. Kahrizi, H. Najmabadi, R. Najafipour, 2021, Archives of Iranian medicine.

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.

K. Kahrizi, H. Najmabadi, M. Mohseni, 2022, Archives of Iranian medicine.

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

R. Pfundt, H. Ropers, P. Jayakar, 2021, HGG advances.

Determination of SMN2 Copy Numbers in Iranian Spinal Muscular Atrophy Patients Using Multiplex Ligation-Dependent Probe Amplification

K. Kahrizi, H. Najmabadi, S. S. Abedini, 2015 .

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population

K. Kahrizi, H. Najmabadi, S. Esmaeili, 2017, Journal of neurogenetics.

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

H. Najmabadi, F. Behjati, R. Mollazadeh, 2018, Gene.

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants

R. Hennekam, J. Uitto, A. Kariminejad, 2019, American journal of medical genetics. Part A.

Support for down-tuning of the calreticulin gene in the process of human evolution

S. Hosseinkhani, S. Farashi, H. Najmabadi, 2011, Progress in Neuro-Psychopharmacology and Biological Psychiatry.

A point mutation at the calreticulin gene core promoter conserved sequence in a case of schizophrenia

H. Najmabadi, A. Aghajani, M. Ohadi, 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Evaluation of chromosomal aberrations caused by air pollutants in some taxi drivers from two polluted districts of urban Tehran and its comparison with drivers from rural areas of Lahijan: a pilot study

H. Najmabadi, K. Kamali, F. Behjati, 2014, Journal of Environmental Health Science and Engineering.

Globin Chain Synthesis is a Useful Complementary Tool in the Differential Diagnosis of Thalassemias

H. Najmabadi, S. Zeinali, M. Akbari, 2007, Hemoglobin.

Association Study of the TREM 2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer ’ s Disease

H. Najmabadi, S. S. Abedini, K. Kamali, 2015 .

Linkage Analysis of DFNB59, One of the Prevalent Loci in 36 Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss

K. Kahrizi, H. Najmabadi, M. Mohseni, 2014 .

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

S. Lenzner, H. Ropers, F. Rüschendorf, 2006, Human Genetics.

Frequency of Connexin26 Gene Mutations in Autosomal Recessive Non-syndromic Deafness in Kermanshah(2002-4)

H. Najmabadi, M. Totonchi, Richard J. H. Smith, 2005 .

Genetic Screening of Leber Congenital Amaurosis in a Large Consanguineous Iranian Family

H. Najmabadi, T. Rezaie, M. Sarfarazi, 2007, Ophthalmic genetics.

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

T. Wienker, N. Galjart, H. Ropers, 2015, European Journal of Human Genetics.

Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review

K. Kahrizi, H. Najmabadi, M. Mohseni, 2023, Molecular genetics & genomic medicine.

Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile.

K. Kahrizi, H. Najmabadi, Farshad Shakerian, 2014, Acta medica Iranica.

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature

H. Najmabadi, M. Miryounesi, H. Lochmuller, 2022, Neuromuscular Disorders.

Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report

A. Kariminejad, H. Najmabadi, E. Keshavarz, 2023, Molecular genetics & genomic medicine.

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

K. Kahrizi, H. Najmabadi, F. Sajedi, 2013, Iranian Red Crescent medical journal.

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.

K. Kahrizi, H. Najmabadi, M. Akbari, 2015, Archives of Iranian medicine.

The human caveolin 1 gene upstream purine complex and neurodegeneration—A common signature

M. Behmanesh, H. Najmabadi, M. Ohadi, 2011, Journal of Neuroimmunology.

Cancer esearch cular and Cellular Pathobiology enetically Deregulated microRNA-375 Is Involved in a itive Feedback Loop with Estrogen Receptor α in R ast Cancer Cells

Ö. Sahin, C. Croce, S. Volinia, 2010 .

Implementation of an In-House Platform for Rapid Screening of SARS-CoV-2 Genome Variations.

R. Malekzadeh, H. Fakhim, M. Moghadami, 2023, Archives of Iranian medicine.

DETERMINATION OF γ-GLOBIN INDUCTION LEVELS BY DIFFERENT CONCENTRATIONS OF HYDROXYUREA IN K562 CELL LINES FOR β THALASSEMIA TREATMENT

G. Javadi, K. Kahrizi, H. Najmabadi, 2009 .

Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran

K. Kahrizi, H. Najmabadi, S. Nafissi, 2023, Archives of Iranian medicine.

Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort

K. Kahrizi, H. Najmabadi, Z. Fattahi, 2023, Archives of Iranian medicine.

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

H. Hashemi, K. Kahrizi, H. Najmabadi, 2015, Archives of Iranian medicine.

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

T. Wienker, H. Ropers, K. Kahrizi, 2015, Archives of Iranian medicine.

Novel extreme homozygote haplotypes at the human caveolin 1 gene upstream purine complex in sporadic Alzheimer's disease

H. Najmabadi, M. Zarif Yeganeh, K. Kamali, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Homozygous THAP1 mutations as cause of early‐onset generalized dystonia

S. Schneider, N. Brüggemann, K. Lohmann, 2011, Movement disorders : official journal of the Movement Disorder Society.

High expression of miR‐510 was associated with CGG expansion located at upstream of FMR1 into full mutation

S. Ghaderian, H. Najmabadi, M. Omrani, 2018, Journal of cellular biochemistry.

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II

K. Kahrizi, H. Najmabadi, Niloofar Bazazzadegan, 2014, Journal of Genetics.

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Allen C. Simpson, M. Farhadi, K. Kahrizi, 2015, Journal of Medical Genetics.

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly

K. Kahrizi, H. Najmabadi, E. Akbariazar, 2013, Iranian journal of child neurology.

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

K. Kahrizi, H. Najmabadi, C. Nishimura, 2012, International journal of pediatric otorhinolaryngology.

Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran.

H. Najmabadi, V. Hadavi, M. Mahdavi, 2012, JPMA. The Journal of the Pakistan Medical Association.