Katherina Walz

Research Associate Professor

  • 1124 Citations
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Research Output 1995 2018

  • 1124 Citations
  • 45 Article

A rare de novo RAI1 gene mutation affecting BDNF-enhancer-driven transcription activity associated with autism and atypical smith-magenis syndrome presentation

Abad, C., Cook, M. M., Cao, L., Jones, J. R., Rao, N. R., Dukes-Rimsky, L., Pauly, R., Skinner, C., Wang, Y., Luo, F., Stevenson, R. E., Walz, K. & Srivastava, A. K., Jun 1 2018, In : Biology. 7, 2, 31.

Research output: Contribution to journalArticle

Smith-Magenis Syndrome
retinoic acid
Brain-Derived Neurotrophic Factor

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Bademci, G., Abad, C., Incesulu, A., Rad, A., Alper, O., Kolb, S. M., Cengiz, F. B., Diaz-Horta, O., Silan, F., Mihci, E., Ocak, E., Najafi, M., Maroofian, R., Yilmaz, E., Nur, B. G., Duman, D., Guo, S., Sant, D. W., Wang, G., Monje, P. V. & 5 othersHaaf, T., Blanton, S. H., Vona, B., Walz, K. & Tekin, M., Jul 1 2018, In : Human Genetics. 137, 6-7, p. 479-486 8 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Hearing Loss
Outer Auditory Hair Cells

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Diaz-Horta, O., Abad, C., Cengiz, F. B., Bademci, G., Blackwelder, P., Walz, K. & Tekin, M., Nov 1 2018, In : Journal of Molecular Medicine. 96, 11, p. 1227-1238 12 p.

Research output: Contribution to journalArticle

Auditory Hair Cells
Post Translational Protein Processing
2 Citations

Rai1 haploinsufficiency is associated with social abnormalities in mice

Rao, N. R., Abad, C., Perez, I. C., Srivastava, A. K., Young, J. & Walz, K., Jun 1 2017, In : Biology. 6, 2, 25.

Research output: Contribution to journalArticle

Social Behavior
Smith-Magenis Syndrome
social behavior
6 Citations

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Diaz-Horta, O., Abad, C., Sennaroglu, L., Ii, J. F., DeSmidt, A., Bademci, G., Tokgoz-Yilmaz, S., Duman, D., Cengiz, F. B., Grati, MH., Fitoz, S., Liu, X. Z., Farooq, A., Imtiaz, F., Currall, B. B., Morton, C. C., Nishita, M., Minami, Y., Lu, Z., Walz, K. & 1 othersTekin, M., May 24 2016, In : Proceedings of the National Academy of Sciences of the United States of America. 113, 21, p. 5993-5998 6 p.

Research output: Contribution to journalArticle

Auditory Hair Cells
Inner Ear
Receptor Tyrosine Kinase-like Orphan Receptors
Spiral Ganglion