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Clinical Kidney Journal|July 3, 2026
Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group surveyMalte P Bartram, Giovambattista Capasso, Emilie Cornec-Le Gall, et al.
Neurogenetics|May 2, 2019
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activityDavid B Beck, T Subramanian, S Vijayalingam, et al.
Kidney International Reports|February 23, 2023
Modeling of ACTN4-Based Podocytopathy Using Drosophila NephrocytesJohanna Odenthal, Sebastian Dittrich, Vivian Ludwig, et al.
The Journal of Experimental Medicine|February 27, 2025
The common HAQ STING allele prevents clinical penetrance of COPA syndromeNoa Simchoni, Shogo Koide, Maryel Likhite, et al.
Research Square|December 31, 2025
Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2Oskar Schnappauf, Hongying Wang, Qing Zhou, et al.
Blood|March 2, 2026
Inflammatory cell death and monocyte dysfunction in VEXAS syndromePaul Breillat, Samuel J Magaziner, Stéphane M Camus, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 9, 2012
Federal seafood safety response to the Deepwater Horizon oil spillGina M Ylitalo, Margaret M Krahn, Walton W Dickhoff, et al.
European Journal of Human Genetics : EJHG|July 12, 2012
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategiesBodo B Beck, Anne Baasner, Anja Buescher, et al.
The EMBO Journal|February 15, 2024
Shared and distinct mechanisms of UBA1 inactivation across different diseasesJason C Collins, Samuel J Magaziner, Maya English, et al.
Biorxiv : the Preprint Server for Biology|October 24, 2023
Shared and Distinct Mechanisms of UBA1 Inactivation Across Different DiseasesJason C Collins, Samuel J Magaziner, Maya English, et al.
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