PubRank

Kimia Kahrizi

Author PubWeight™ 55.38‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011 4.85
2 A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet 2008 2.18
3 A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet 2007 2.13
4 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
5 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
6 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
7 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
8 Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet 2011 1.37
9 Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet 2006 1.36
10 Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 2011 1.35
11 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
12 SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2005 1.25
13 Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet 2012 1.24
14 Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet 2009 1.19
15 Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope 2009 1.16
16 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
17 GJB2 mutations: passage through Iran. Am J Med Genet A 2005 1.09
18 The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research. Hum Mutat 2003 1.08
19 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
20 Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet 2010 1.03
21 Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. Ann Otol Rhinol Laryngol 2010 1.02
22 ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet 2011 1.01
23 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
24 Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat 2009 1.00
25 A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. PLoS One 2013 0.99
26 Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population. Am J Med Genet A 2012 0.99
27 Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Hum Mutat 2014 0.96
28 A novel DFNA5 mutation does not cause hearing loss in an Iranian family. J Hum Genet 2007 0.95
29 A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. Am J Med Genet A 2012 0.93
30 Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy. Ann Acad Med Singapore 2009 0.86
31 miRNA mutations are not a common cause of deafness. Am J Med Genet A 2010 0.84
32 Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages. Arch Med Sci 2011 0.84
33 Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. Eur J Med Genet 2009 0.83
34 The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. Int J Pediatr Otorhinolaryngol 2012 0.82
35 M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism. Eur J Med Genet 2008 0.82
36 Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am J Med Genet A 2011 0.82
37 A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. Am J Med Genet A 2009 0.82
38 Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families. J Genet 2015 0.81
39 NDST1 missense mutations in autosomal recessive intellectual disability. Am J Med Genet A 2014 0.81
40 GJB2 mutations in Baluchi population. J Genet 2008 0.80
41 A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly. J Pak Med Assoc 2012 0.79
42 GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss. Hum Mutat 2002 0.79
43 Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss. Int J Pediatr Otorhinolaryngol 2011 0.79
44 Did the GJB2 35delG mutation originate in Iran? Am J Med Genet A 2011 0.78
45 A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. Am J Med Genet A 2013 0.78
46 CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population. Can J Neurol Sci 2008 0.78
47 Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. BMJ Case Rep 2009 0.76
48 Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. Arch Iran Med 2012 0.76
49 A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability. Eur J Hum Genet 2015 0.76
50 Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran. Hemoglobin 2004 0.76
51 Serotonin Transporter Polymorphism (5-HTTLPR) and Citalopram Effectiveness in Iranian Patients with Major Depressive Disorder. Iran J Psychiatry 2013 0.75
52 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. Am J Med Genet A 2008 0.75
53 The Iranian human mutation database. Arch Iran Med 2007 0.75
54 High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran. Hemoglobin 2003 0.75
55 Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. Eur J Pediatr 2010 0.75
56 Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations. J Genet 2016 0.75