Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
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
Neonatal and Syndromic Forms of Diabetes.
Gobble MRS et al.
Current Diabetes Reports, 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
Monogenic and syndromic diabetes due to endoplasmic reticulum stress.
Stone SI et al.
Journal of Diabetes and Its Complications, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Ellard S et al.
Diabetologia, 2013
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
Abdel-Salam GM et al.
American Journal of Medical Genetics. Part A, 2012
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