ZFIN ID: ZDB-PERS-200824-4
Murthy, Harsha
Email: harsha.murthy@sickkids.ca
URL:
Affiliation:
Address: The Hospital for Sick Children The Peter Gilgan Centre for Research and Learning 686 Bay Street Rm 16.9707 Toronto, ON M5G 0A4 Canada
Country: Canada
Phone: 416-813-7654 x301588
Fax:
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Priestley, J.R.C., Deshwar, A.R., Murthy, H., D'Agostino, M.D., Dupuis, L., Gangaram, B., Gray, C., Jobling, R., Pannia, E., Platzer, K., Prescott, K., Redman, M., Rippert, A.L., Rosenfeld, J.A., Scott, D.A., Wang, Y.W., Schmederer, Z., Dalal, A., Sarma, A.S., Skraban, C., Dowling, J.J., Mendoza-Londono, R., Slavotinek, A., Bhoj, E.J. (2023) Monoallelic Loss of Function BMP2 Variants Result in BMP2-Related Skeletal Dysplasia Spectrum. Genetics in medicine : official journal of the American College of Medical Genetics. 25(8):100863
Deshwar, A.R., Cytrynbaum, C., Murthy, H., Zon, J., Chitayat, D., Volpatti, J., Newbury-Ecob, R., Ellard, S., Lango Allen, H., Yu, E.P., Noche, R., Walker, S., Scherer, S.W., Mahida, S., Elitt, C.M., Nicolas, G., Goldenberg, A., Saugier-Veber, P., Lecoquierre, F., Dabaj, I., Meddaugh, H., Marble, M., Keppler-Noreuil, K.M., Drayson, L., Barañano, K.W., Chassevent, A., Agre, K., Létard, P., Bilan, F., Le Guyader, G., Laquerrière, A., Ramsey, K., Henderson, L., Brady, L., Tarnopolsky, M., Bainbridge, M., Friedman, J., Capri, Y., Athayde, L., Kok, F., Gurgel-Giannetti, J., Ramos, L.L.P., Blaser, S., Dowling, J.J., Weksberg, R. (2022) Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. Brain : a journal of neurology. 146(6):2285-2297
Lee, S.H., Hadipour-Lakmehsari, S., Murthy, H.R., Gibb, N., Miyake, T., Teng, A.C.T., Cosme, J., Yu, J.C., Moon, M., Lim, S., Wong, V., Liu, P., Billia, F., Fernandez-Gonzalez, R., Stagljar, I., Sharma, P., Kislinger, T., Scott, I.C., Gramolini, A.O. (2020) REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects. Nature communications. 11:965

NON-ZEBRAFISH PUBLICATIONS