Tipu Sultan

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro et al. · Human Genetics · 2017 · 173 citations

Intellectual Impairment, Genetics, Disability +6

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 117 citations · Full text

Synaptic Plasticity, Molecular Neuroscience, Developmental Biology +12

Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Anide Johansen, Rasim Özgür Rosti, Damir Musaev et al. · The American Journal of Human Genetics · 2016 · 90 citations · Full text

Intellectual Disability Accompanied, Mendelian Disorder, Genetic Disorder +8

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

Wendy Wenderski, Lu Wang, A. Krokhotin et al. · Proceedings of the National Academy of Sciences · 2020 · 63 citations · Full text

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Martin W. Breuss, Tipu Sultan, Kiely N. James et al. · The American Journal of Human Genetics · 2016 · 59 citations · Full text

Progressive Microcephaly, Autosomal-recessive Mutations, Developmental Biology +7