Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation by Şeyhan Kutluǧ, Kaan Boztuǧ, Alişan Yıldıran

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A rare case of syndromic severe congenital neutropenia: JAGN1 mutation by Funda Erol Çipe, Çiğdem Aydoğmuş, Kübra Baskın, Gonca Keskindemirci, Wojciech Garncarz, Kaan Boztuğ

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Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases by Neslihan Edeer Karaca, Guzide Aksu, Ezgi Ulusoy, Serap Aksoylar, Salih Gozmen, Ferah Genel, Sanem Akarcan, Nesrin Gulez, Tatjana Hirschmugl, Savas Kansoy, Kaan Boztug, Necil Kutukculer

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Transcriptional and epigenetic rewiring by the NUP98::KDM5A fusion oncoprotein directly activates CDK12 by Selina Troester, Thomas Eder, Nadja Wukowits, Martin Piontek, Pablo Fernández-Pernas, Johannes Schmoellerl, Ben Haladik, Gabriele Manhart, Melanie Allram, Margarita Maurer-Granofszky, Nastassja Scheidegger, Karin Nebral, Giulio Superti-Furga, Roland Meisel, Beat Bornhauser, Peter Valent, Michael N. Dworzak, Johannes Zuber, Kaan Boztug, Florian Grebien

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