Eva  Niggl

contact

  • e.niggl@erasmusmc.nl
  • +31 10 7043169
  • Room: Ee1491
  • Dr. Molewaterplein 40, Faculty Building, Rotterdam, The Netherlands

Eva Niggl (E)

Publications

1. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Elgersma Y, van Esbroeck ACM
in American journal of human genetics 2023

2. Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.

3. Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.

Perenthaler E, Yousefi S, Niggl E, Barakat TS
in Frontiers in cellular neuroscience 2019
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