Associated Papers
Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistance.
Aslanzadeh V et al.
Nature Communications, 2025
41093840 (PubMed )
Supplement: 41467_2025_64178_MOESM10_ESM.pdf
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Rabson-Mendenhall Syndrome Nearly Misdiagnosed as Type 1 Diabetes Mellitus: A Case Report.
Almotawa F et al.
Cureus, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D et al.
European Journal of Human Genetics : Ejhg, 2017
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.
Bastaki F et al.
Hormone Research in Paediatrics, 2017
Molecular characterization of a novel p.R118C mutation in the insulin receptor gene from patients with severe insulin resistance.
Alzahrani AS et al.
Clinical Endocrinology, 2012
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