University Medical Centre Utrecht (UMC Utrecht)

Recurrent Loss of SMARCA4 in Sinonasal Teratocarcinosarcoma (2020) Rooper LM, Uddin N, Gagan J, Brosens LA, Magliocca KR, Edgar MA, Thompson LD, et al. Journal article De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020) Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, et al. Journal article Definition, aims, and implementation of GA2LEN/HAEi Angioedema Centers of Reference and Excellence (2020) Maurer M, Aberer W, Agondi R, Al-Ahmad M, Al-Nesf MA, Ansotegui I, Arnaout R, et al. Journal article The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas (2020) Bongaarts A, Van Scheppingen J, Korotkov A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WG, et al. Journal article Single-cell analysis uncovers that metabolic reprogramming by ErbB2 signaling is essential for cardiomyocyte proliferation in the regenerating heart (2019) Honkoop H, De Bakker DEM, Aharonov A, Kruse F, Shakked A, Nguyen PD, De Heus C, et al. Journal article GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways (2019) López-Isac E, Acosta-Herrera M, Kerick M, Assassi S, Satpathy AT, Granja J, Mumbach MR, et al. Journal article CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al. Journal article Machine learning in cardiovascular magnetic resonance: Basic concepts and applications (2019) Leiner T, Rueckert D, Suinesiaputra A, Baessler B, Nezafat R, Isgum I, Young AA Journal article, Review article CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al. Conference contribution Novel Developments in Primary Immunodeficiencies (PID)—a Rheumatological Perspective (2019) Leavis H, Zwerina J, Manger B, Fritsch-Stork RD Journal article, Review article