Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024) Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al. Journal article FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women (2023) Figlioli G, Billaud A, Ahearn TU, Antonenkova NN, Becher H, Beckmann M, Behrens S, et al. Journal article The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort (2023) Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, Horn AH, et al. Journal article High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations (2023) Reutter HM Journal article Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies (2022) Vintschger E, Kraemer D, Joset P, Horn A, Rauch A, Sticht H, Bachmann-Gagescu R Journal article Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy (2022) Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, et al. Journal 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 Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes (2022) Breuer K, Riedhammer KM, Mueller N, Schaidinger B, Dombrowsky G, Dittrich S, Zeidler S, et al. Journal article Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2022) Bakhuizen JJ, Hanson H, Van De Tuin K, Lalloo F, Tischkowitz M, Wadt K, Doergeloh BB, et al. Conference contribution Beyond founder and truncting variants in TECPR2-associated disorder (2022) Neuser S, Brechmann B, Heimer G, Brosse I, Schubert S, O'Grady L, Zech M, et al. Conference contribution