Roxana Kariminejad

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 975 citations

Neurodegenerative Diseases, Recessive Cognitive Disorders, Genetic Disorder +6

THE β-THALASSEMIA MUTATION SPECTRUM IN THE IRANIAN POPULATION

Hossein Najmabadi, Roxana Kariminejad, Solmaz Sahebjam et al. · Hemoglobin · 2001 · 154 citations

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Alma Kuechler, Alexander M. Zink, Thomas Wieland et al. · European Journal of Human Genetics · 2014 · 143 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

Masoud Garshasbi, Valeh Hadavi, Haleh Habibi et al. · The American Journal of Human Genetics · 2008 · 139 citations · Full text

Developmental Biology, Molecular Neuroscience, Genetic Disorder +7

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18

Ariana Kariminejad, Roxana Kariminejad, Moshtagh Azadeh et al. · European Journal of Human Genetics · 2011 · 80 citations · Full text

Developmental Anomaly, Pericentric Inversion, Cytogenetics +6