Institute of Human Genetics

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel (2022) Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, et al. Journal article The Gut–Immune–Brain Axis: An Important Route for Neuropsychiatric Morbidity in Inflammatory Bowel Disease (2022) Masanetz RK, Winkler J, Winner B, Günther C, Süß P Journal article, Review article Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study (2022) Popp B, Ekici AB, Knaup K, Schneider K, Uebe S, Park J, Bafna V, et al. Journal article Early effects of aldosterone on Na+ transport and the transcriptome of cultured mouse cortical collecting duct cells (mCCDcl1) (2022) Afonso S, Bertog M, Ilyaskin A, Büttner C, Ekici AB, Korbmacher C Conference contribution Improved Bladder Tumor RNA Isolation from Archived Tissues Using Methylene Blue for Normalization, Multiplex RNA Hybridization, Sequencing and Subtyping (2022) Köhler S, Brandl L, Strissel P, Glossner L, Ekici AB, Angeloni M, Ferrazzi F, et al. Journal article, Original article Detecting tandem repeat variants in coding regions using code-adVNTR (2022) Park J, Bakhtiari M, Popp B, Wiesener M, Bafna V Journal article The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome (2022) Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, et al. Journal article Primary cilia and SHH signaling impairments in human and mouse models of Parkinson's disease (2022) Schmidt S, Luecken MD, Truembach D, Hembach S, Niedermeier KM, Wenck N, Pfluegler K, et al. Journal article Th2 single-cell heterogeneity and clonal distribution at distant sites in helminth-infected mice (2022) Radtke D, Thuma N, Schülein C, Kirchner P, Ekici AB, Schober K, Vöhringer D Journal article Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia (2022) Winner B, Rizo Garza T, Gebhardt L, Riedlberger J, Eberhardt E, Fester L, Alansary D, et al. Other publication type