Institute of Human Genetics

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (2022) Morison LD, Meffert E, Stampfer M, Steiner-Wilke I, Vollmer B, Schulze K, Briggs T, et al. Journal article Impact of Siponimod on Enteric and Central Nervous System Pathology in Late-Stage Experimental Autoimmune Encephalomyelitis (2022) Weier A, Enders M, Kirchner P, Ekici AB, Bigaud M, Kapitza C, Wörl J, Kuerten S Journal article 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