Amjad Khan

<i>NCKAP1L</i>defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

Carla N. Castro, Michèlle Rosenzwajg, Raphaël Carapito et al. · The Journal of Experimental Medicine · 2020 · 86 citations · Full text

Life Sciences, Genetics, Immunology +17

Biallelic variants in four genes underlying recessive osteogenesis imperfecta

Amir Hayat, Shabir Hussain, Muhammad Bilal et al. · European Journal of Medical Genetics · 2020 · 41 citations · Full text

Medicine, Genetics, Molecular Genetics +10

RETRACTED ARTICLE: Forensic characterization of 15 autosomal STRs in four populations from Xinjiang, China, and genetic relationships with neighboring populations

Xiaoni Zhan, Atif Adnan, Amjad Khan et al. · Scientific Reports · 2018 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Diane D. Shao, Rachel Straussberg, Hind Ahmed et al. · Genetics in Medicine · 2021 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

Amjad Khan, Amjad Khan, Lucia Pia Bruno et al. · Frontiers in Molecular Neuroscience · 2022 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17