Kimia Kahrizi

Research.com Recognitions

• 2025 - Research.com Genetics in Greece Leader Award

Overview

Best Publications

• Deep sequencing reveals 50 novel genes for recessive cognitive disorders

  Hossein Najmabadi;Hao Hu;Masoud Garshasbi;Tomasz Zemojtel

  1052
  Citations

• Mutations in NSUN2 cause autosomal-recessive intellectual disability

  Lia Abbasi-Moheb;Sara Mertel;Melanie Gonsior;Leyla Nouri-Vahid

  288
  Citations

• Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

  Matthew R. Avenarius;Michael S. Hildebrand;Yuzhou Zhang;Nicole C. Meyer

  277
  Citations

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

  Mohammad Mahdi Motazacker;Benjamin Rainer Rost;Tim Hucho;Masoud Garshasbi

  223
  Citations

• Genetics of intellectual disability in consanguineous families

  Hao Hu;Hao Hu;Kimia Kahrizi;Luciana Musante;Zohreh Fattahi

  207
  Citations

• Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

  Asif Mir;Liana Kaufman;Abdul Noor;Mahdi M. Motazacker

  183
  Citations

• Genetic male infertility and mutation of CATSPER ion channels

  Michael S Hildebrand;Matthew R Avenarius;Marc Fellous;Yuzhou Zhang

  181
  Citations

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

  Masoud Garshasbi;Valeh Hadavi;Haleh Habibi;Kimia Kahrizi

  177
  Citations

• Iranome: A catalog of genomic variations in the Iranian population.

  Zohreh Fattahi;Maryam Beheshtian;Marzieh Mohseni;Hossein Poustchi

  174
  Citations

• Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

  Yuzhou Zhang;Mahdi Malekpour;Navid Al-Madani;Kimia Kahrizi

  169
  Citations

• Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

  A. Eliot Shearer;Robert W. Eppsteiner;Kevin T. Booth;Sean S. Ephraim

  168
  Citations

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

  Hossein Najmabadi;Mohammad Mahdi Motazacker;Masoud Garshasbi;Kimia Kahrizi

  158
  Citations

• Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

  Nicolas Grillet;Martin Schwander;Michael S. Hildebrand;Anna Sczaniecka

  156
  Citations

• Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

  Guntram Borck;Atteeq Ur Rehman;Atteeq Ur Rehman;Kwanghyuk Lee;Hans Martin Pogoda

  134
  Citations

• ST3GAL3 mutations impair the development of higher cognitive functions

  Hao Hu;Katinka Eggers;Wei Chen;Masoud Garshasbi

  125
  Citations

• GJB2 mutations: passage through Iran.

  Hossein Najmabadi;Carla Nishimura;Kimia Kahrizi;Yasser Riazalhosseini

  123
  Citations

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

  H. . Darvish;Sahar Esmaeeli Nieh;G. B. Monajemi;M. Mohseni

  117
  Citations

• Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

  Christina M Sloan-Heggen;Mojgan Babanejad;Maryam Beheshtian;Allen C Simpson

  115
  Citations

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

  W Chen;K Kahrizi;N C Meyer;Y Riazalhosseini

  101
  Citations

• Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

  Muhammad Arshad Rafiq;Andreas W. Kuss;Lucia Puettmann;Abdul Noor

  101
  Citations