Katherina Walz

Research Associate Professor

  • 1297 Citations
19952019

Research output per year

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Research Output

2019

Arnold-Chiari type 1 malformation in Potocki–Lupski syndrome

Varon, A., Whitt, Z., Kalika, P. M., Potocki, L., Barbouth, D. S. & Walz, K., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1366-1370 5 p.

Research output: Contribution to journalArticle

Cellular and animal models in human genomics research

Walz, K. & Young, J. I., Jan 1 2019, Elsevier. 226 p.

Research output: Book/ReportBook

CRISPR-cas technology as a tool to create animal models for biomedical research

Sundhari, A. K., Reddy, S. K., Walz, K., Gurumurthy, C. B. & Quadros, R. M., Jan 1 2019, Cellular and Animal Models in Human Genomics Research. Elsevier, p. 141-153 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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., Grace Zhai, R. & 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

2 Scopus citations

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

4 Scopus citations

Introduction to human genetics

Posey, J. E. & Walz, K., Jan 1 2019, Cellular and Animal Models in Human Genomics Research. Elsevier, p. 1-17 17 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Models to understand human genomics, final considerations

Walz, K. & Young, J. I., Jan 1 2019, Cellular and Animal Models in Human Genomics Research. Elsevier, p. 191-197 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain

Kazmierczak, K., Liang, J., Yuan, C. C., Yadav, S., Sitbon, Y. H., Walz, K., Ma, W., Irving, T. C., Cheah, J. X., Gomes, A. V. & Szczesna-Cordary, D., Mar 1 2019, In : FASEB Journal. 33, 3, p. 3152-3166 15 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

The mouse, a model organism for biomedical research

Canales, C. P. & Walz, K., Jan 1 2019, Cellular and Animal Models in Human Genomics Research. Elsevier, p. 119-140 22 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Tiny models to answer big questions: The worm and the yeast as tools in human genetics research

Pardo, P. S. & Walz, K., Jan 1 2019, Cellular and Animal Models in Human Genomics Research. Elsevier, p. 49-68 20 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
2018

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 2018, In : Biology. 7, 2, 31.

Research output: Contribution to journalArticle

3 Scopus citations

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

3 Scopus citations

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

1 Scopus citations
2017

Rai1 haploinsufficiency is associated with social abnormalities in mice

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

Research output: Contribution to journalArticle

4 Scopus citations
2016

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 others, Tekin, 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

11 Scopus citations
2015

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

Gallagher, D., Voronova, A., Zander, M. A., Cancino, G. I., Bramall, A., Krause, M. P., Abad, C., Tekin, M., Neilsen, P. M., Callen, D. F., Scherer, S. W., Keller, G. M., Kaplan, D. R., Walz, K. & Miller, F. D., Jan 1 2015, In : Developmental Cell. 32, 1, p. 31-42 12 p.

Research output: Contribution to journalArticle

56 Scopus citations

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

Voronova, A., Gallagher, D., Zander, M., Cancino, G., Bramall, A., Krause, M. P., Abad, C., Tekin, M., Neilsen, P. M., Callen, D. F., Scherer, S. W., Keller, G. M., Kaplan, D. R., Walz, K. & Miller, F. D., Dec 1 2015, In : SpringerPlus. 4, p. 1-32 32 p., L28.

Research output: Contribution to journalArticle

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Walz, K., Cohen, D., Neilsen, P. M., Foster, J., Brancati, F., Demir, K., Fisher, R., Moffat, M., Verbeek, N. E., Bjørgo, K., Lo Castro, A., Curatolo, P., Novelli, G., Abad, C., Lei, C., Zhang, L., Diaz-Horta, O., Young, J. I., Callen, D. F. & Tekin, M., Jan 13 2015, In : Human genetics. 134, 2, p. 181-190 10 p.

Research output: Contribution to journalArticle

22 Scopus citations
2014

Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory

Cao, L., Molina, J., Abad, C., Carmona-Mora, P., Cárdenas Oyarzo, A., Young, J. I. & Walz, K., Apr 1 2014, In : Human molecular genetics. 23, 7, p. 1771-1782 12 p.

Research output: Contribution to journalArticle

8 Scopus citations

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome

Camarena, V., Cao, L., Abad, C., Abrams, A., Toledo, Y., Araki, K., Araki, M., Walz, K. & Young, J. I., Aug 2014, In : EMBO Molecular Medicine. 6, 8, p. 1003-1015 13 p.

Research output: Contribution to journalReview article

15 Scopus citations

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Diaz-Horta, O., Subasioglu-Uzak, A., Grati, MH., DeSmidt, A., Foster, J., Cao, L., Bademci, G., Tokgoz-Yilmaz, S., Duman, D., Cengiz, F. B., Abad, C., Mittal, R., Blanton, S., Liu, X. Z., Farooq, A., Walz, K., Lu, Z. & Tekin, M., Jul 8 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 27, p. 9864-9868 5 p.

Research output: Contribution to journalArticle

43 Scopus citations

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction

Foster, J., Kapoor, S., Diaz-Horta, O., Singh, A., Abad, C., Rastogi, A., Moharana, R., Tekeli, O., Walz, K. & Tekin, M., Dec 1 2014, In : Clinical Genetics. 86, 6, p. 589-591 3 p.

Research output: Contribution to journalArticle

4 Scopus citations

Tubular overexpression of gremlin induces renal damage susceptibility in mice

Droguett, A., Krall, P., Burgos, M. E., Valderrama, G., Carpio, D., Ardiles, L., Rodriguez-Diez, R., Kerr, B., Walz, K., Ruiz-Ortega, M., Egido, J. & Mezzano, S., Jul 18 2014, In : PloS one. 9, 7, e101879.

Research output: Contribution to journalArticle

23 Scopus citations
2013

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

Bulum, B., Özçakar, Z. B., Üstüner, E., Düşünceli, E., Kavaz, A., Duman, D., Walz, K., Fitoz, S., Tekin, M. & Yalçinkaya, F., Nov 1 2013, In : Pediatric Nephrology. 28, 11, p. 2143-2147 5 p.

Research output: Contribution to journalArticle

30 Scopus citations

Transient receptor potential channel 6 (trpc6) protects podocytes during complement-Mediated glomerular disease

KistlerA, A. D., Singh, G., Altintas, M. M., Yu, H., Fernandez, I. C., Gu, C., Wilson, C., Srivastava, S. K., Dietrich, A., Walz, K., Kerjaschki, D., Ruiz, P., Dryer, S., Sever, S., Dinda, A. K., Faul, C. & Reiser, J., Dec 20 2013, In : Journal of Biological Chemistry. 288, 51, p. 36598-36609 12 p.

Research output: Contribution to journalArticle

29 Scopus citations
2012

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men

Lacaria, M., Saha, P., Potocki, L., Bi, W., Yan, J., Girirajan, S., Burns, B., Elsea, S., Walz, K., Chan, L., Lupski, J. R. & Gu, W., May 2012, In : PLoS genetics. 8, 5, e1002713.

Research output: Contribution to journalArticle

31 Scopus citations

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome

Goh, E. S. Y., Perez, I. C., Canales, C. P., Ruiz, P., Agatep, R., Yoon, G., Chitayat, D., Dror, Y., Shago, M., Goobie, S., Sgro, M., Walz, K. & Mendoza-Londono, R., Jul 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 7, p. 1579-1588 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Vieira, G. H., Rodriguez, J. D., Carmona-Mora, P., Cao, L., Gamba, B. F., Carvalho, D. R., De Rezende Duarte, A., Santos, S. R., De Souza, D. H., Dupont, B. R., Walz, K., Moretti-Ferreira, D. & Srivastava, A. K., Feb 1 2012, In : European Journal of Human Genetics. 20, 2, p. 148-154 7 p.

Research output: Contribution to journalArticle

11 Scopus citations

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

Carmona-Mora, P., Canales, C. P., Cao, L., Perez, I. C., Srivastava, A. K., Young, J. I. & Walz, K., Sep 18 2012, In : PloS one. 7, 9, e45155.

Research output: Contribution to journalArticle

19 Scopus citations

Transgenic complementation of MeCP2 deficiency: Phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

Kerr, B., Soto C, J., Saez, M., Abrams, A., Walz, K. & Young, J. I., Jan 1 2012, In : European Journal of Human Genetics. 20, 1, p. 69-76 8 p.

Research output: Contribution to journalArticle

30 Scopus citations
2011

Copy number variation and susceptibility to complex traits

Canales, C. P. & Walz, K., Jan 1 2011, In : EMBO Molecular Medicine. 3, 1, p. 1-4 4 p.

Research output: Contribution to journalArticle

8 Scopus citations
2010

Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development

Alvarez-Saavedra, M., Carrasco, L., Sura-Trueba, S., Aiello, V. D., Walz, K., Neto, J. X. & Young, J. I., Mar 4 2010, In : Human molecular genetics. 19, 11, p. 2177-2190 14 p., ddq096.

Research output: Contribution to journalArticle

35 Scopus citations

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

Carmona-Mora, P., Encina, C. A., Canales, C. P., Cao, L., Molina, J., Kairath, P., Young, J. I. & Walz, K., Aug 25 2010, In : BMC Molecular Biology. 11, 63.

Research output: Contribution to journalArticle

22 Scopus citations

Morphological and molecular analysis of centropagids from the high Andean plateau (Copepoda: Calanoidea)

Scheihing, R., Cardenas, L., Nespolo, R. F., Krall, P., Walz, K., Kohshima, S. & Labarca, P., Jan 1 2010, In : Hydrobiologia. 637, p. 45-52 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Phenotypic consequences of copy number variation: Insights from smith-magenis and Potocki-Lupski syndrome mouse models

Ricard, G., Molina, J., Chrast, J., Gu, W., Gheldof, N., Pradervand, S., Schütz, F., Young, J. I., Lupski, J. R., Reymond, A. & Walz, K., Nov 2010, In : PLoS biology. 8, 11, e1000543.

Research output: Contribution to journalArticle

63 Scopus citations

Podocyte-specific overexpression of wild type or mutant Trpc6 in mice is sufficient to cause glomerular disease

Krall, P., Canales, C. P., Kairath, P., Carmona-Mora, P., Molina, J., Carpio, J. D., Ruiz, P., Mezzano, S. A., Li, J., Wei, C., Reiser, J., Young, J. I. & Walz, K., 2010, In : PloS one. 5, 9, p. 1-11 11 p., e12859.

Research output: Contribution to journalArticle

83 Scopus citations

Retinoic acid induced 1, RAI1: A dosage sensitive gene related to neurobehavioral alterations including autistic behavior

Carmona-Mora, P. & Walz, K., 2010, In : Current Genomics. 11, 8, p. 607-617 11 p.

Research output: Contribution to journalArticle

29 Scopus citations

Unconventional transcriptional response to environmental enrichment in a mouse model of rett syndrome

Kerr, B., Silva, P. A., Walz, K. & Young, J. I., 2010, In : PloS one. 5, 7, e11534.

Research output: Contribution to journalArticle

37 Scopus citations
2009

Mouse models of genomic syndromes as tools for understanding the basis of complex traits: An example with the Smith-Magenis and the Potocki-Lupski syndromes

Carmona-Mora, P., Molina, J., Encina, C. A. & Walz, K., 2009, In : Current Genomics. 10, 4, p. 259-268 10 p.

Research output: Contribution to journalReview article

10 Scopus citations
2008

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

Molina, J., Carmona-Mora, P., Chrast, J., Krall, P. M., Canales, C. P., Lupski, J. R., Reymond, A. & Walz, K., Aug 2008, In : Human molecular genetics. 17, 16, p. 2486-2495 10 p.

Research output: Contribution to journalArticle

63 Scopus citations
2006

Epilepsy and chromosomal rearrangements in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

Goldman, A. M., Potocki, L., Walz, K., Lynch, J. K., Glaze, D. G., Lupski, J. R. & Noebels, J. L., Feb 1 2006, In : Journal of child neurology. 21, 2, p. 93-98 6 p.

Research output: Contribution to journalReview article

24 Scopus citations

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)

Walz, K., Paylor, R., Yan, J., Bi, W. & Lupski, J. R., Nov 1 2006, In : Journal of Clinical Investigation. 116, 11, p. 3035-3041 7 p.

Research output: Contribution to journalArticle

48 Scopus citations
2004

Animal models for human contiguous gene syndromes and other genomic disorders

Walz, K., Fonseca, P. & Lupski, J. R., 2004, In : Genetics and Molecular Biology. 27, 3, p. 305-320 16 p.

Research output: Contribution to journalReview article

Open Access
5 Scopus citations

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2)

Walz, K., Spencer, C., Kaasik, K., Lee, C. C., Lupski, J. R. & Paylor, R., Feb 15 2004, In : Human molecular genetics. 13, 4, p. 367-378 12 p.

Research output: Contribution to journalArticle

56 Scopus citations

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Bi, W., Saifi, G. M., Shaw, C. J., Walz, K., Fonseca, P., Wilson, M., Potocki, L. & Lupski, J. R., Dec 9 2004, In : Human Genetics. 115, 6, p. 515-524 10 p.

Research output: Contribution to journalArticle

79 Scopus citations

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

Yan, J., Keener, V. W., Bi, W., Walz, K., Bradley, A., Justice, M. J. & Lupski, J. R., Nov 1 2004, In : Human molecular genetics. 13, 21, p. 2613-2624 12 p.

Research output: Contribution to journalArticle

35 Scopus citations
2003

cDNA cloning, biochemical and phylogenetic characterization of β- and β' -subunits of Candida albicans protein kinase CK2

Zelada, A., De Souza, F. S. J., Walz, K., Giasson, L. & Passeron, S., Apr 30 2003, In : Yeast. 20, 6, p. 471-478 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast

Yan, J., Walz, K., Nakamura, H., Carattini-Rivera, S., Zhao, Q., Vogel, H., Wei, N., Justice, M. J., Bradley, A. & Lupski, J. R., Oct 2003, In : Molecular and cellular biology. 23, 19, p. 6798-6808 11 p.

Research output: Contribution to journalArticle

76 Scopus citations

Genomic disorders: Genome architecture results in susceptibility to DNA rearrangements causing common human traits

Stankiewicz, P., Inoue, K., Bi, W., Walz, K., Park, S. S., Kurotaki, N., Shaw, C. J., Fonseca, P., Yan, J., Lee, J. A., Khajavi, M. & Lupski, J. R., Jan 1 2003, In : Cold Spring Harbor symposia on quantitative biology. 68, p. 445-454 10 p.

Research output: Contribution to journalArticle

25 Scopus citations

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: Phenotypic consequences of gene dosage imbalance

Walz, K., Caratini-Rivera, S., Bi, W., Fonseca, P., Mansouri, D. L., Lynch, J., Vogel, H., Noebels, J. L., Bradley, A. & Lupski, J. R., May 1 2003, In : Molecular and cellular biology. 23, 10, p. 3646-3655 10 p.

Research output: Contribution to journalArticle

84 Scopus citations