Anna Mikhailov

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Gerald Egger, Katharina M. Roetzer, Abdul Noor et al. · Neurogenetics · 2014 · 113 citations

Syndromic Autism, Genetics, Risk Genes +8

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

Rosalind Law, Tracy Dixon‐Salazar, Julie Jerber et al. · The American Journal of Human Genetics · 2014 · 70 citations · Full text

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Iltaf Ahmed, Rebecca Buchert, Mi Zhou et al. · Human Molecular Genetics · 2015 · 58 citations · Full text

Mutations in the histamine<i>N</i>-methyltransferase gene,<i>HNMT</i>, are associated with nonsyndromic autosomal recessive intellectual disability

Abolfazl Heidari, Chanakan Tongsook, Reza Najafipour et al. · Human Molecular Genetics · 2015 · 33 citations · Full text

Histone Modifications, Genetic Testing, Epigenetic Change +16

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

Asif Mir, Kumudesh Sritharan, Kirti Mittal et al. · Human Genetics · 2014 · 33 citations

Intellectual Impairment, Developmental Biology, Mendelian Disorder +7