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American Journal of Human Genetics|November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor MutationsNina Mann, Franziska Kause, Erik K Henze, et al.The Journal of Clinical Investigation|November 9, 2020
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stressElisa De Franco, Maria Lytrivi, Hazem Ibrahim, et al.The Journal of Clinical Investigation|September 9, 2025
Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndromeEnrico Virgilio, Sylvia Tielens, Georgia Bonfield, et al.Nature Medicine|October 4, 2023
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicineDeirdre K Tobias, Jordi Merino, Abrar Ahmad, et al.Pageof 10