Hossein Najmabadi

Overview

Best Publications

• Deep sequencing reveals 50 novel genes for recessive cognitive disorders

  Hossein Najmabadi;Hao Hu;Masoud Garshasbi;Tomasz Zemojtel

  1052
  Citations

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

  Arya Mani;Jayaram Radhakrishnan;He Wang;Alaleh Mani

  688
  Citations

• Thalassemia in Iran: epidemiology, prevention, and management.

  Hassan Abolghasemi;Ali Amid;Sirous Zeinali;Mohammad H. Radfar

  332
  Citations

• Epigenetically Deregulated microRNA-375 Is Involved in a Positive Feedback Loop with Estrogen Receptor α in Breast Cancer Cells

  Pedro de Souza Rocha Simonini;Pedro de Souza Rocha Simonini;Achim Breiling;Nibedita Gupta;Mahdi Malekpour

  322
  Citations

• Mutations in NSUN2 cause autosomal-recessive intellectual disability

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

  288
  Citations

• 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.

  H Najmabadi;V Huang;P Yen;M N Subbarao

  285
  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

• The beta-thalassemia mutation spectrum in the Iranian population.

  Hossein Najmabadi;Roxana Karimi-Nejad;Solmaz Sahebjam;Farzin Pourfarzad

  255
  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

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

  Martin Schwander;Anna Sczaniecka;Nicolas Grillet;Janice S. Bailey

  215
  Citations

• Genetics of intellectual disability in consanguineous families

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

  207
  Citations

• Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

  Jan Senderek;Jan Senderek;Juliane S. Müller;Marina Dusl;Tim M. Strom

  194
  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

• 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

• Ethnic Specific Distribution of Mutations in 716 Patients with Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency

  Robert C. Wilson;Saroj Nimkarn;Miroslav Dumić;Jihad Obeid;Jihad Obeid

  156
  Citations