Muhammad Nasim Khan

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 · 71 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

Hina Mir, Syed Irfan Raza, Muhammad Touseef et al. · BMC Medical Genetics · 2014 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the tRNA methyltransferase 1 gene <i>TRMT1</i> cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability

Kathrin Blaesius, Ansar Ahmed Abbasi, Tufail Hussain Tahir et al. · American Journal of Medical Genetics Part A · 2018 · 37 citations

Medicine, Genetics, Molecular Genetics +16

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome

Saadullah Khan, Imran Ullah, Irfanullah Irfanullah et al. · Gene · 2012 · 32 citations

Life Sciences, Genetics, Molecular Genetics +6

Identification of a novel homozygous <i>TRAPPC9</i> gene mutation causing non‐syndromic intellectual disability, speech disorder, and secondary microcephaly

Ansar Ahmed Abbasi, Kathrin Blaesius, Hao Hu et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2017 · 32 citations

Life Sciences, Genetics, Molecular Genetics +17