Search Results - "Jobanputra, V."

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing by Macera, M. J., Sobrino, A., Levy, B., Jobanputra, V., Aggarwal, V., Mills, A., Esteves, C., Hanscom, C., Pereira, S., Pillalamarri, V., Ordulu, Z., Morton, C. C., Talkowski, M., Warburton, D.

“…What's already known about this topic? Chromothripsis is a recently described phenomenon whereby a single catastrophic event leads to multiple chromosome…”
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Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies by Jobanputra, V., Wilson, A., Shirazi, M., Feenstra, H., Levy, B., Anyane-Yeboa, K., Warburton, D.

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Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation by Jobanputra, V, Levy, B, Kinney, A, Brown, S, Shirazi, M, Yu, C, Kline, J, Warburton, D

“…To test the hypothesis that microdeletions or microduplications below the resolution of a standard karyotype may be a significant cause of highly skewed…”
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Clinical utility of whole-genome sequencing in precision oncology by Rosenquist, Richard, Cuppen, Edwin, Buettner, Reinhard, Caldas, Carlos, Dreau, Helene, Elemento, Olivier, Frederix, Geert, Grimmond, Sean, Haferlach, Torsten, Jobanputra, Vaidehi, Meggendorfer, Manja, Mullighan, Charles G., Wordsworth, Sarah, Schuh, Anna

“…Precision diagnostics is one of the two pillars of precision medicine. Sequencing efforts in the past decade have firmly established cancer as a primarily…”
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O-210 Detection of small copy number variations as incidental findings in PGT-A: clinical utility from a multisite experience including 12,157 patients by Iturriaga, A, Picchetta, L, Vega, C, Figliuzzi, M, Poli, M, Whitehead, C, Capalbo, A, Tao, X, Jobanputra, V, Loia, N, Jalas, C

“…Abstract Study question What is the technical accuracy and clinical utility of reporting small copy number variants (CNVs below 3Mb) detected by a targeted…”
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Analytical demands to use whole-genome sequencing in precision oncology by Meggendorfer, Manja, Jobanputra, Vaidehi, Wrzeszczynski, Kazimierz O., Roepman, Paul, de Bruijn, Ewart, Cuppen, Edwin, Buttner, Reinhard, Caldas, Carlos, Grimmond, Sean, Mullighan, Charles G., Elemento, Olivier, Rosenquist, Richard, Schuh, Anna, Haferlach, Torsten

“…Interrogating the tumor genome in its entirety by whole-genome sequencing (WGS) offers an unprecedented insight into the biology and pathogenesis of cancer,…”
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Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care by Cuppen, Edwin, Elemento, Olivier, Rosenquist, Richard, Nikic, Svetlana, IJzerman, Maarten, Zaleski, Isabelle Durand, Frederix, Geert, Levin, Lars-Åke, Mullighan, Charles G, Buettner, Reinhard, Pugh, Trevor J, Grimmond, Sean, Caldas, Carlos, Andre, Fabrice, Custers, Ilse, Campo, Elias, van Snellenberg, Hans, Schuh, Anna, Nakagawa, Hidewaki, von Kalle, Christof, Haferlach, Torsten, Fröhling, Stefan, Jobanputra, Vaidehi

“…The combination of whole-genome and transcriptome sequencing (WGTS) is expected to transform diagnosis and treatment for patients with cancer. WGTS is a…”
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Detection of chromosomal abnormalities using fluorescence in situ hybridization (FISH) by Jobanputra, V, Kriplani, A, Choudhry, V P, Kucheria, K

“…A number of studies have demonstrated the use of molecular cytogenetic techniques for clinical diagnosis. We compared the results of FISH analysis and…”
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Multiplex interphase FISH as a screen for common aneuploidies in spontaneous abortions by Jobanputra, Vaidehi, Sobrino, Antonio, Kinney, Ann, Kline, Jennie, Warburton, Dorothy

“…BACKGROUND: A multiplex fluorescence in-situ hybridization (FISH) strategy using chromosome-specific probes for eight chromosomes as an initial screen for…”
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Binding of Thienamycin and Clavulanic Acid to the Penicillin-Binding Proteins of Escherichia coli K-12 by Spratt, B G, Jobanputra, V, Zimmermann, W

“…Classifications Services AAC Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Mosaic partial trisomy of chromosome 5 (q33-q ter) associated with fetal polycystic kidneys by Kriplani, A, Banerjee, N, Jobanputra, V, Kucheria, K

“…A case of de novo mosaic partial trisomy of chromosome 5 (q33-q ter) in a stillborn male fetus with bilateral polycystic kidneys, and atrial septal defect, is…”
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Prenatal diagnosis of chromosomal abnormalities in women with high risk pregnancies by Jobanputra, V, Roy, K K, Kriplani, A, Kucheria, K

“…Prenatal diagnosis helps in averting the birth of infants with chromosomal abnormalities. Fluorescence in situ hybridization (FISH) has been introduced as a…”
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Mutants of Escherichia coli which lack a component of penicillin-binding protein 1 are viable by Spratt, Brian G., Jobanputra, Vinay, Schwarz, Uli

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Human molecular cytogenetics: Diagnosis, prognosis, and disease management by Kucheria, Kiran, Jobanputra, Vaidehi, Talwar, Rashmi, Ahmad, M.E., Dada, Rima, Sivakumaran, T.A.

“…The year 2001 witnessed the sequencing of 90% of the euchromatic region in the human genome but the ultimate goal to delineate the positions of all genes is…”
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