Ambrin Fatima

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann et al. · Human Molecular Genetics · 2013 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations of <i>KIF14</i> cause primary microcephaly by impairing cytokinesis

Abubakar Moawia, Ranad Shaheen, Sajida Rasool et al. · Annals of Neurology · 2017 · 85 citations

Life Sciences, Genetics, Molecular Genetics +17

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

Joakim Klar, Jörg Piontek, Susanne Milatz et al. · PLoS Genetics · 2017 · 67 citations · Full text

Natural Sciences, Molecular Genetics, Physiology +17

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

Muhammad Farooq, Louise Lindbæk, Nicolai Krogh et al. · Nature Communications · 2020 · 56 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

Loora Laan, Joakim Klar, Maria Sobol et al. · Clinical Epigenetics · 2020 · 36 citations · Full text

Life Sciences, Genetics, Molecular Biology +17