Published in J Genet on September 01, 2016
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (2007) 4.27
Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol (2007) 2.29
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet (2007) 2.13
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci (2007) 1.90
Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor alpha in breast cancer cells. Cancer Res (2010) 1.82
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet (2006) 1.66
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.58
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet (2007) 1.56
Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events. Haematologica (2006) 1.45
The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5'HS4. Blood Cells Mol Dis (2011) 1.43
Association of the protein Z intron F G79A gene polymorphism with recurrent pregnancy loss. Fertil Steril (2008) 1.42
A report of 8 cases with hemoglobin H disease in an Iranian family. Pediatr Hematol Oncol (2010) 1.39
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol (2011) 1.38
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet (2009) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet (2006) 1.36
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet (2011) 1.35
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Mol Genet Metab (2007) 1.34
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet (2010) 1.31
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet (2010) 1.29
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet (2005) 1.25
Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet (2012) 1.24
Mutations in GRIP1 cause Fraser syndrome. J Med Genet (2012) 1.20
Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet (2009) 1.19
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope (2009) 1.16
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Eur J Hum Genet (2008) 1.14
A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci U S A (2008) 1.13
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A (2011) 1.11
GJB2 mutations: passage through Iran. Am J Med Genet A (2005) 1.09
The cypriot and Iranian National Mutation Frequency Databases. Hum Mutat (2006) 1.08
The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research. Hum Mutat (2003) 1.08
Association between the DRD2 A1 allele and opium addiction in the Iranian population. Am J Med Genet B Neuropsychiatr Genet (2005) 1.06
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. Am J Hum Genet (2013) 1.04
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A (2011) 1.04
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Neuromuscul Disord (2003) 1.04
Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet (2010) 1.03
Association of AKT1 haplotype with the risk of schizophrenia in Iranian population. Am J Med Genet B Neuropsychiatr Genet (2006) 1.03
Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord (2011) 1.03
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Ann Otol Rhinol Laryngol (2010) 1.02
ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet (2011) 1.01
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus. Am J Med Genet A (2007) 1.00
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat (2009) 1.00
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. PLoS One (2013) 0.99
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A (2012) 0.99
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Hum Mutat (2014) 0.96
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis (2011) 0.95
Elevated coagulation factor VIII and the risk for recurrent early pregnancy loss. Thromb Haemost (2004) 0.95
A novel DFNA5 mutation does not cause hearing loss in an Iranian family. J Hum Genet (2007) 0.95
Sensitive detection of KRAS mutations in archived formalin-fixed paraffin-embedded tissue using mutant-enriched PCR and reverse-hybridization. J Mol Diagn (2009) 0.95
Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions. Clin Chem Lab Med (2007) 0.94
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. Am J Med Genet A (2012) 0.93
Elucidating the spectrum of alpha-thalassemia mutations in Iran. Haematologica (2007) 0.93
Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer. Cancer Epidemiol Biomarkers Prev (2005) 0.93
Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and early pregnancy loss. Clin Chem (2003) 0.93
Diagnostic values of GHSR DNA methylation pattern in breast cancer. Breast Cancer Res Treat (2012) 0.92
Hydroxyurea responsiveness in β-thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity. Haematologica (2012) 0.91
Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance. Mod Rheumatol (2010) 0.91
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. Am J Med Genet A (2008) 0.91
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. Am J Hum Genet (2010) 0.90
Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing. Haematologica (2002) 0.90
Prognostic value of chromosome 1 and 8 copy number in invasive ductal breast carcinoma among Iranian women: an interphase FISH analysis. Pathol Oncol Res (2005) 0.90
alpha-Thalassemia mutation analyses in Mazandaran province, North Iran. Hemoglobin (2009) 0.89
Aging and decision making under uncertainty: behavioral and neural evidence for the preservation of decision making in the absence of learning in old age. Neuroimage (2010) 0.89