Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.
Virgilio E et al.
The Journal of Clinical Investigation, 2025
Inseparable/IER3IP1 are essential for cytokinesis in Drosophila neuroblasts and human cells.
Kakade AA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Microcephaly, Epilepsy, and Diabetes Syndrome 1: A Moroccan Case Report of Novel Compound Heterozygous IER3IP1 Mutations and Literature Review.
Jelti H et al.
Balkan Journal of Medical Genetics : Bjmg, 2025
IER3IP1 Mutations Cause Neonatal Diabetes Due to Impaired Proinsulin Trafficking.
Montaser H et al.
Diabetes, 2025
A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey
Söbü E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.
Anitei M et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Early-onset diabetes in Africa: A mini-review of the current genetic profile.
Adadey SM et al.
European Journal of Medical Genetics, 2023
Essential requirement for IER3IP1 in B cell development.
Zhong X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report.
Zegarra WA et al.
Bmc Pediatrics, 2023
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K et al.
Reproductive Biology and Endocrinology : Rb&e, 2023
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Mouler M et al.
Pediatric Diabetes, 2022
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
Rjiba K et al.
European Journal of Medical Genetics, 2021
Emerging technologies in pediatrics: the paradigm of neonatal diabetes mellitus.
Nicolaides NC et al.
Critical Reviews in Clinical Laboratory Sciences, 2020
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.
Valenzuela I et al.
European Journal of Medical Genetics, 2017
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Shalev SA et al.
Pediatric Diabetes, 2014
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.
Poulton CJ et al.
American Journal of Human Genetics, 2011