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 · 81 citations · Full text

Biallelic variants in four genes underlying recessive osteogenesis imperfecta

Amir Hayat, Shabir Hussain, Muhammad Bilal et al. · European Journal of Medical Genetics · 2020 · 38 citations · Full text

Developmental Biology, Biallelic Variants, Genetic Disorder +5

RETRACTED ARTICLE: Forensic characterization of 15 autosomal STRs in four populations from Xinjiang, China, and genetic relationships with neighboring populations

Xiaoni Zhan, Atif Adnan, Zhou Yu-zhang et al. · Scientific Reports · 2018 · 28 citations · Full text

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 · 27 citations · Full text

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

Amjad Khan · Frontiers in Molecular Neuroscience · 2022 · 26 citations · Full text