Research Summary
My research focuses on clinical and translation research for constitutional disorders and cancer genetics.
Rare copy number variants (CNVs) are implicated as significant contributors for developmental disorders. We have used genomic microarray analysis to precisely determine the genomic imbalance in patients with known chromosomal abnormalities and to detect de novo CNVs in children with autism. Currently we are using this approach to study (a) CNVs in children with congenital heart defects (b) to establish genotype-phenotype correlations in patients with partial aneuploidies of chromosome 13. Our goal is to identify candidate region(s) or gene(s) that are responsible for causing the specific phenotypes.
Another focus of our research is to understand the factors contributing to nondisjunction in ageing human oocytes. We are studying meiotic proteins affecting chromosome segregation in human oocytes.
In the clinical laboratory, we are developing high-throughput sequencing strategies for constitutional disorders and genomic microarrays for neoplastic disorders.
Selected Publications
Jobanputra V, Levy B, Kinney A, Brown S, Shirazi M, Yu C, Kline J, Warburton D. Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation. Cytogenet Genome Res. 2012;136(4):264-69.
Jobanputra V, Burke A, Kwame AY, Shanmugham A, Shirazi M, Brown S, Warburton PE, Levy B, Warburton D. Duplication of the ZIC2 gene is not associated with holoprosencephaly. Am J Med Genet. 2012;158A:103–108
Jobanputra V, Esteves C, Sobrino A, Brown S, Kline J, Warburton D. Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens. Prenat Diagn. 2011; 31(8):755-59
Jobanputra V, Ash E, Yeboa KA, Warburton D, Levy. Changes in an inherited ring(22) due to meiotic recombination? Implications for genetic counseling. (2009) Am J Med Genet. 2009;149A(6):1310-14
Sebat, J.,Lakshmi, B., Malhotra, D., Lese-Martin, C., Troge, J, Walsh, T., Yamrom1, B., Yoon, S., Krasnitz, A., Kendall, J., Leotta. A., Pai1, D., Zhang, R., Lee, Y.H., , Hicks, J., Spence, S.J., Lee, A.T., Puura, K., Lehtimäki, T., Ledbetter, D., Gregersen, P.K., Bregman, J., Sutcliffe, J.S.,
Jobanputra V., Chung, W., Warburton, D., King, M.C., Skuse, D., Geschwind, D.H., T. Gilliam, C., Ye, K., Wigler, M. Strong association of de novo copy number variation with autism. Science 2007;316(5823):445-49
Jobanputra V, Chung W, Hacker A.M., Emanuel B.S., Warburton D. A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. Prenat Diagn 2005;25(8):683-86
Jobanputra V, Sebat J, Troge J , Chung W, Yeboa KA, Wigler M, Warburton D. Application of ROMA (Representational oligonucleotide Microarray Analysis) to Patients with Cytogenetic Rearrangements. Genet Med. 2005;7(2):111-18
Jobanputra V, Sobrino A, Kinney A, Kline J, Warburton D. Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions. Hum Reprod. 2002;17(5):1166-70
