Katherina Walz

Research Associate Professor

  • 1200 Citations
19952019
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  • 1 Similar Profiles
Smith-Magenis Syndrome Medicine & Life Sciences
Gene Dosage Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Tretinoin Medicine & Life Sciences
Mutation Medicine & Life Sciences
Casein Kinase II Medicine & Life Sciences
Candida Chemical Compounds

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Research Output 1995 2019

  • 1200 Citations
  • 48 Article

Arnold-Chiari type 1 malformation in Potocki–Lupski syndrome

Varon, A., Whitt, Z., Kalika, P. M., Potocki, L., Barbouth, D. S. & Walz, K., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Arnold-Chiari Malformation
Chromosome Duplication
Magnetic Resonance Imaging
Failure to Thrive
Inborn Genetic Diseases

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Li, C., Bademci, G., Subasioglu, A., Diaz-Horta, O., Zhu, Y., Liu, J., Mitchell, T. G., Abad, C., Seyhan, S., Duman, D., Cengiz, F. B., Tokgoz-Yilmaz, S., Blanton, S. H., Farooq, A., Walz, K., Zhai, R. G. & Tekin, M., Jan 22 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 4, p. 1347-1352 6 p.

Research output: Contribution to journalArticle

GRB2 Adaptor Protein
Sensorineural Hearing Loss
Phosphotransferases
Proteins
Auditory Hair Cells

FOXF2 is required for cochlear development in humans and mice

Bademci, G., Abad, C., Incesulu, A., Elian, F., Reyahi, A., Diaz-Horta, O., Cengiz, F. B., Sineni, C. J., Seyhan, S., Atli, E. I., Basmak, H., Demir, S., Nik, A. M., Footz, T., Guo, S., Duman, D., Fitoz, S., Gurkan, H., Blanton, S. H., Walter, M. A. & 3 others, Carlsson, P., Walz, K. & Tekin, M., Apr 15 2019, In : Human molecular genetics. 28, 8, p. 1286-1297 12 p.

Research output: Contribution to journalArticle

Cochlea
Human Development
Sensorineural Hearing Loss
Knockout Mice
Cell Polarity

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
neurotrophins
retinoic acid
Brain-Derived Neurotrophic Factor
Transcription
1 Citation (Scopus)

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 others, Haaf, 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
Genes
Jews