Faculty : Katherina Walz, Ph.D.

Katherina Walz, Ph.D.

Research Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Director, Division of Human Disease Modeling in the Center for Molecular Genetics, John P. Hussman Institute for Human Genomics

My research has focused on understanding the relationship between genetic and phenotypic variation, having human patients as the starting point. We utilize cellular and mouse models as genetic tools to validate the genetic cause, define the phenotypic outcomes and elucidate the molecular and physiological pathways related to human genetic diseases. Two lines of investigation are currently underway, one that includes syndromes with behavioral and neurodevelopmental anomalies, and the other one related to hearing loss.

MyNCBI Link:


Top Publications:

  • Kannan-Sundhari 1, Abad C, Maloof ME, Ayad NG, Young JI, Liu XZ, Walz K. Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival. Front Cell Dev Biol. 2020 September; 576654. PMID: 33015071. PMCID: PMC7509448. DOI: 10.3389/fcell.2020.576654
  • Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development. Bademci G, Abad C, Cengiz FB, Seyhan S, Incesulu A, Guo S, Fitoz S, Atli EI, Gosstola NC, Demir S, Colbert BM, Seyhan GC, Sineni CJ, Duman D, Gurkan H, Morton CC, Dykxhoorn DM, Walz K, Tekin M. J Clin Invest. 2020 Aug 3;130(8):4213-4217. doi: 10.1172/JCI136951. PubMed PMID: 32369452; PubMed Central PMCID: PMC7410044.
  • Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell. 2015 Jan 12;32(1):31-42. doi: 10.1016/j.devcel.2014.11.031. Epub 2014 Dec 31. PubMed PMID: 25556659.
  • Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. G Ricard, J Molina, J Chrast, W Gu, N Gheldof, S Pradervand, F Schütz, … PLoS Biol 8 (11), e1000543, 2010
  • Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2) K Walz, R Paylor, J Yan, W Bi, JR Lupski 2003. The Journal of clinical investigation 116 (11), 3035-3041