Overview 2019

  1. Carina Mathey (University Hospital Bonn)
    Design of a candidate smMIPS sequencing study in patients with hereditary angioedema of unknown cause (U-HAE) with further application in patients with ACE-inhibitor induced angioedema
    See: abstract
  2. Eline Simons (University of Antwerp)
    Study of the contribution of SCN10A mutations to the Brugada syndrome genetic architecture
    See: abstract
    Listen: pitch
  3. Jolijn Verseput (Radboudumc Nijmegen)
    Clustering missense mutations in WDR5 cause a new neurodevelopmental disorder
    See: abstract
  4. Sophia Schneider (University Hospital Bonn)
    Genetic drivers of congenital Hydro- and Chylothoraces
    See: abstract
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  5. Amber de Haan (UMC Groningen)
    Validation of diagnostic algorithms and identification of novel genes in young patients with unknown primary renal disease (VARIETY)
    See: abstract
  6. Jeroen Smits (Radboudumc Nijmegen)
    De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
    See: abstract
  7. Carmen Daems (KU Leuven)
    A20: a predisposing factor for neuropsychiatric lupus
    See: abstract
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  8. Helen Roessler (UMC Utrecht)
    Loss-of-function mutation of ABCC9 causes ABCC9-related Intellectual disability Myopathy Syndrome (AIMS) – a novel KATP channelopathy
    See: abstract
  9. Joost Kummeling (Radboudumc Nijmegen)
    Loss of function of SETD1A causes a distinct neurodevelopmental disorder in humans, whereas knock down of the orthologue Set1 shows impaired memory in Drosophila
    See: abstract
  10. Wout Weuring (UMC Utrecht)
    Efficacy of voltage-gated sodium channel subtype selective compounds in a novel zebrafish model for Dravet syndrome
    See: abstract
  11. Juliette Kamp (LUMC Leiden)
    BRCA1-associated mutational signatures are a consequence of polymerase Theta-Mediated End-Joining
    See: abstract
  12. Michaela Bartusel (University of Cologne)
    Modelling the pathological long-range regulatory effects of structural variation in the neural crest with patient-specific hiPSC
    See: abstract
  13. Cedric Thues (KU Leuven)
    Unravelling the pathophysiology of a novel tubulinopathy: Circumferential Skin Creases syndrome, Kunze type
    See: abstract
  14. Elke de Boer (Radboudumc Nijmegen)
    Aberrant accumulation and mislocalization of ANKRD11 in the nucleolus of patient-derived cells indicate a dominant-negative mechanism underlying the phenotype in KBG syndrome
    See: abstract
  15. Ronja Hollstein (University of Bonn)
    Establishing human neural crest cells to functionally characterize risk loci associated with common facial disease
    See: abstract
  16. Frederic Thieme (University of Bonn)
    Analyzing non-coding risk variants for non-syndromic cleft lip with/without cleft palate using massively parallel reporter assays (MPRAs)
    See: abstract
  17. Lise van Wijk (LUMC Leiden)
    Functional analysis of BRCAness in female cancers: translation to clinical applications
    See: abstract
  18. Jeroen Meekels (Maastricht UMC+)
    Development of an innovative method for comprehensive preimplantation genetic testing
    See: abstract
  19. Julia Schröder (University Hospital Bonn)
    Functional follow-up of 5p15 risk locus associated with Barrett’s esophagus and esophageal adenocarcinoma
    See: abstract
  20. Mandy Meijer (Radboudumc Nijmegen)
    The interaction between genetics and the environment in ADHD persistence and impulsive and aggressive behavior
    See: abstract
  21. Julia Welzenbach (University of Bonn)
    Integration of genetic and functional data reveals insights into biological effects in craniofacial development and orofacial clefting
    See: abstract
  22. Roel van Reij (Maastricht University)
    Genome-wide association analysis identifies potential risk locus for chronic postsurgical pain
    See: abstract
    Listen: pitch
  23. Philip Jansen (VUmc Amsterdam)
    Population genetics in the Big Data era: results from large scale GWAS of behavioral traits
    See: abstract
  24. Luca Schierbaum (University Hospital Bonn)
    Copy number variation analysis in patients with anorectal malformation and cleft lip and palate in order to determine 22q11.2 mircodeletion and -duplication frequencies and identify rare disease-causing CNVs
    See: abstract
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  25. Lisanne Vervoort (KU Leuven)
    Optical Mapping of 22q11.2 Low Copy Repeats reveals structural hypervariability
    See: abstract
  26. Vyne van der Schoot (Maastricht UMC+)
    1 in 38 individuals at risk of a dominant medically actionable disease
    See: abstract
  27. Margot van Riel (KU Leuven)
    Non-invasive prenatal diagnosis using cervical trophoblast cells
    See: abstract
  28. Jenny Singh (LUMC Leiden)
    A novel Zinc Finger protein in DNA double-strand break repair
    See: abstract