ZFIN Person: Vaz, Raquel

ZFIN ID: ZDB-PERS-120518-2

Vaz, Raquel

Email:	raquel.vaz@monash.edu
URL:
Affiliation:
Address:	School of Biological Sciences Faculty of Science Monash University Victoria 3800 Australia
Country:
Phone:	99020319
Fax:
ORCID ID:

BIOGRAPHY AND RESEARCH INTERESTS

PUBLICATIONS

Kiselev, A., Vaz, R., Knyazeva, A., Sergushichev, A., Dmitrieva, R., Khudiakov, A., Jorholt, J., Smolina, N., Sukhareva, K., Fomicheva, Y., Mikhaylov, E., Mitrofanova, L., Predeus, A., Sjoberg, G., Rudenko, D., Sejersen, T., Lindstrand, A., Kostareva, A. (2019) Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy. Frontiers in genetics. 10:608

Vaz, R., Hofmeister, W., Lindstrand, A. (2019) Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques. International Journal of Molecular Sciences. 20(6)

Pettersson, M., Vaz, R., Hammarsjö, A., Eisfeldt, J., Carvalho, C.M.B., Hofmeister, W., Tham, E., Horemuzova, E., Voss, U., Nishimura, G., Klintberg, B., Nordgren, A., Nilsson, D., Grigelioniene, G., Lindstrand, A. (2018) Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human Mutation. 39(10):1456-1467

Kiselev, A., Vaz, R., Knyazeva, A., Khudiakov, A., Tarnovskaya, S., Liu, J., Sergushichev, A., Kazakov, S., Frishman, D., Smolina, N., Pervunina, T., Jorholt, J., Sjoberg, G., Vershinina, T., Rudenko, D., Arner, A., Sejersen, T., Lindstrand, A., Kostareva, A. (2018) De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. Human Mutation. 39(9):1161-1172

Hammarsjö, A., Wang, Z., Vaz, R., Taylan, F., Sedghi, M., Girisha, K.M., Chitayat, D., Neethukrishna, K., Shannon, P., Godoy, R., Gowrishankar, K., Lindstrand, A., Nasiri, J., Baktashian, M., Newton, P.T., Guo, L., Hofmeister, W., Pettersson, M., Chagin, A.S., Nishimura, G., Yan, L., Matsumoto, N., Nordgren, A., Miyake, N., Grigelioniene, G., Ikegawa, S. (2017) Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Scientific Reports. 7:15585

Vaz, R., Lindstrand, A. (2017) ankdd1b expression pattern in early stages of zebrafish development. ZFIN Direct Data Submission.

Giousoh, A., Vaz, R., Bryson-Richardson, R.J., Whisstock, J.C., Verkade, H., Bird, P.I. (2015) Bone morphogenetic protein/retinoic acid inducible neural-specific protein (brinp) expression during Danio rerio development. Gene expression patterns : GEP. 18(1-2):37-43

Pelliccia, D., Vaz, R., Svalbe, I., Morgan, K.S., Marathe, S., Xiao, X., Assoufid, L., Anderson, R.A., Topczewski, J., Bryson-Richardson, R.J. (2015) Comparison of different numerical treatments for x-ray phase tomography of soft tissue from differential phase projections. Physics in Medicine and Biology. 60:3065-3080

Ruparelia, A.A., Oorschot, V., Vaz, R., Ramm, G., Bryson-Richardson, R.J. (2014) Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. Acta Neuropathologica. 128(6):821-33

Ravenscroft, G., Miyatake, S., Lehtokari, V.L., Todd, E.J., Vornanen, P., Yau, K.S., Hayashi, Y.K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., Shiina, M., Bryson-Richardson, R.J., Vaz, R., Ceyhan, O., Brownstein, C.A., Swanson, L.C., Monnot, S., Romero, N.B., Amthor, H., Kresoje, N., Sivadorai, P., Kiraly-Borri, C., Haliloglu, G., Talim, B., Orhan, D., Kale, G., Charles, A.K., Fabian, V.A., Davis, M.R., Lammens, M., Sewry, C.A., Manzur, A., Muntoni, F., Clarke, N.F., North, K.N., Bertini, E., Nevo, Y., Willichowski, E., Silberg, I.E., Topaloglu, H., Beggs, A.H., Allcock, R.J., Nishino, I., Wallgren-Pettersson, C., Matsumoto, N., and Laing, N.G. (2013) Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. American journal of human genetics. 93(1):6-18

NON-ZEBRAFISH PUBLICATIONS