De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Margot R. F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A. C. Goos, Melissa M. Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B. A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth-Bolard, Charu Deshpande, Claudia A. L. Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward M. Blair, Hartmut EngelsHermann-Josef Ludecke, Jacqueline Eason, Gijs W. E. Santen, Jill Clayton-Smith, Kate Chandler, Katrina Tatton-Brown, Katelyn Payne, Katherine Helbig, Kelly Radtke, Kimberly M. Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner-Glindzicz, Marieke F. van Dooren, Marielle Alders, Marije Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola S. Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Alexander P. A. Stegmann, Han G. Brunner, Deciphering Dev Disorders Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1195-1203
Number of pages9
JournalAmerican Journal of Human Genetics
Volume102
Issue number6
DOIs
Publication statusPublished - 7 Jun 2018

Keywords

  • TOUSLED-LIKE KINASES
  • GENES
  • MUTATIONS
  • Cell Line
  • Translocation, Genetic
  • Genetic Association Studies
  • Humans
  • Protein Kinases/genetics
  • Child, Preschool
  • Infant
  • Male
  • Loss of Function Mutation/genetics
  • RNA, Messenger/genetics
  • Young Adult
  • Inheritance Patterns/genetics
  • Base Sequence
  • Adolescent
  • Facies
  • Adult
  • Female
  • Child
  • Neurodevelopmental Disorders/genetics

Cite this

Reijnders, M. R. F., Miller, K. A., Alvi, M., Goos, J. A. C., Lees, M. M., de Burca, A., Henderson, A., Kraus, A., Mikat, B., de Vries, B. B. A., Isidor, B., Kerr, B., Marcelis, C., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C. A. L., Wieczorek, D., Baralle, D., Blair, E. M., ... Deciphering Dev Disorders Study (2018). De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics, 102(6), 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014