Search Results - "Surti, Urvashi"

Resolving the complexity of the human genome using single-molecule sequencing by Chaisson, Mark J. P., Huddleston, John, Dennis, Megan Y., Sudmant, Peter H., Malig, Maika, Hormozdiari, Fereydoun, Antonacci, Francesca, Surti, Urvashi, Sandstrom, Richard, Boitano, Matthew, Landolin, Jane M., Stamatoyannopoulos, John A., Hunkapiller, Michael W., Korlach, Jonas, Eichler, Evan E.

“…Single-molecule, real-time DNA sequencing is used to analyse a haploid human genome (CHM1), thus closing or extending more than half of the remaining 164…”
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Med12 gain-of-function mutation causes leiomyomas and genomic instability by Mittal, Priya, Shin, Yong-Hyun, Yatsenko, Svetlana A, Castro, Carlos A, Surti, Urvashi, Rajkovic, Aleksandar

“…Uterine leiomyomas are benign tumors that can cause pain, bleeding, and infertility in some women. Mediator complex subunit 12 (MED12) exon 2 variants are…”
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Expression and trafficking of placental microRNAs at the feto‐maternal interface by Chang, Guojing, Mouillet, Jean‐François, Mishima, Takuya, Chu, Tianjiao, Sadovsky, Elena, Coyne, Carolyn B., Parks, W. Tony, Surti, Urvashi, Sadovsky, Yoel

“…ABSTRACT During pregnancy, placental trophoblasts at the feto‐maternal interface produce a broad repertoire of microRNA (miRNA) species. These species include…”
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Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas by McGuire, Megan M, Yatsenko, Alexander, Hoffner, Lori, Jones, Mirka, Surti, Urvashi, Rajkovic, Aleksandar

“…Uterine leiomyomas (uterine fibroids) arise from smooth muscle tissue in the majority of women by age 45. It is common for these clonal tumors to develop from…”
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Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads by Vollger, Mitchell R., Logsdon, Glennis A., Audano, Peter A., Sulovari, Arvis, Porubsky, David, Peluso, Paul, Wenger, Aaron M., Concepcion, Gregory T., Kronenberg, Zev N., Munson, Katherine M., Baker, Carl, Sanders, Ashley D., Spierings, Diana C.J., Lansdorp, Peter M., Surti, Urvashi, Hunkapiller, Michael W., Eichler, Evan E.

“…The sequence and assembly of human genomes using long‐read sequencing technologies has revolutionized our understanding of structural variation and genome…”
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Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome by Peters, David, Chu, Tianjiao, Yatsenko, Svetlana A, Hendrix, Nancy, Hogge, W. Allen, Surti, Urvashi, Bunce, Kimberly, Dunkel, Mary, Shaw, Patricia, Rajkovic, Aleksandar

“…This proof-of-principle study shows that it is possible to detect a genetic microdeletion carried by a fetus through analysis of DNA in circulating maternal…”
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Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays by Yatsenko, Svetlana A., M.D, Mittal, Priya, Ph.D, Wood-Trageser, Michelle A., Ph.D, Jones, Mirka W., M.D, Surti, Urvashi, Ph.D, Edwards, Robert P., M.D, Sood, Anil K., M.D, Rajkovic, Aleksandar, M.D., Ph.D

“…Objective To determine the genomic signatures of human uterine leiomyomas and prevalence of MED12 mutations in human uterine leiomyosarcomas. Design…”
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Single haplotype assembly of the human genome from a hydatidiform mole by Steinberg, Karyn Meltz, Schneider, Valerie A, Graves-Lindsay, Tina A, Fulton, Robert S, Agarwala, Richa, Huddleston, John, Shiryev, Sergey A, Morgulis, Aleksandr, Surti, Urvashi, Warren, Wesley C, Church, Deanna M, Eichler, Evan E, Wilson, Richard K

“…A complete reference assembly is essential for accurately interpreting individual genomes and associating variation with phenotypes. While the current human…”
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Reproductive outcomes in individuals with chromosomal reciprocal translocations by Verdoni, Angela, Hu, Jie, Surti, Urvashi, Babcock, Melanie, Sheehan, Elizabeth, Clemens, Michele, Drewes, Sarah, Walsh, Leslie, Clark, Rebecca, Katari, Sunita, Sanfilippo, Joe, Saller, Devereux N., Rajkovic, Aleksandar, Yatsenko, Svetlana A.

“…Purpose Patients with reciprocal balanced translocations (RBT) have a risk for recurrent pregnancy losses (RPL), affected child, and infertility. Currently,…”
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The genetics of gestational trophoblastic disease: a rare complication of pregnancy by Hoffner, Lori, Surti, Urvashi

“…Gestational choriocarcinoma is usually a rapidly spreading fatal disease, but it is curable if diagnosed early and treated. It is a unique malignancy that is a…”
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Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes by Khawajkie, Yassemine, Mechtouf, Nawel, Nguyen, Ngoc Minh Phuong, Rahimi, Kurosh, Breguet, Magali, Arseneau, Jocelyne, Ronnett, Brigitte M., Hoffner, Lori, Lazure, Felicia, Arnaud, Marjolaine, Peers, Fabrice, Tan, Liane, Rafea, Basam Abu, Aguinaga, Monica, Horowitz, Neil S., Ao, Asangla, Tan, Seang Lin, Brown, Richard, Buckett, William, Surti, Urvashi, Hovanes, Karine, Sahoo, Trilochan, Sauthier, Philippe, Slim, Rima

“…Hydatidiform mole (HM) is an aberrant human pregnancy characterized by excessive trophoblastic proliferation and abnormal embryonic development. HM has two…”
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Follicular lymphoma-like B cells of uncertain significance (in situ follicular lymphoma) may infrequently progress, but precedes follicular lymphoma, is associated with other overt lymphomas and mimics follicular lymphoma in flow cytometric studies by Pillai, Raju K, Surti, Urvashi, Swerdlow, Steven H

“…In situ follicular lymphoma, more recently known as follicular lymphoma-like B cells of uncertain/undetermined significance is well accepted. However, the…”
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High-resolution human genome structure by single-molecule analysis by Teague, Brian, Waterman, Michael S, Goldstein, Steven, Potamousis, Konstantinos, Zhou, Shiguo, Reslewic, Susan, Sarkar, Deepayan, Valouev, Anton, Churas, Christopher, Kidd, Jeffrey M, Kohn, Scott, Runnheim, Rodney, Lamers, Casey, Forrest, Dan, Newton, Michael A, Eichler, Evan E, Kent-First, Marijo, Surti, Urvashi, Livny, Miron, Schwartz, David C

“…Variation in genome structure is an important source of human genetic polymorphism: It affects a large proportion of the genome and has a variety of phenotypic…”
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A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles by Allias, Fabienne, Mechtouf, Nawel, Gaillot-Durand, Lucie, Hoffner, Lori, Hajri, Touria, Devouassoux-Shisheboran, Mojgan, Massardier, Jérôme, Golfier, François, Bolze, Pierre-Adrien, Surti, Urvashi, Slim, Rima

“…NLRP7 is a maternal-effect gene that has a primary role in the oocyte. Its biallelic mutations are a major cause for recurrent diploid biparental hydatidiform…”
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CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders by Hu, Jie, Liao, Jun, Sathanoori, Malini, Kochmar, Sally, Sebastian, Jessica, Yatsenko, Svetlana A, Surti, Urvashi

“…Neurodevelopmental disorders are impairments of brain function that affect emotion, learning, and memory. Copy number variations of contactin genes (CNTNs),…”
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EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma by Antonescu, Cristina R., Dal Cin, Paola, Nafa, Khedoudja, Teot, Lisa A., Surti, Urvashi, Fletcher, Christopher D., Ladanyi, Marc

“…The molecular hallmark of angiomatoid fibrous histiocytoma (AFH) is not well defined, with only six cases with specific gene fusions reported to date,…”
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Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis by Mohan, K Naga, Cao, Ye, Pham, Justin, Cheung, Sau Wai, Hoffner, Lori, Ou, Z Zishuo, Surti, Urvashi, Cook, Edwin H, Beaudet, Arthur L

“…In view of conflicting reports on the pathogenicity of 15q11.2 CNVs of the breakpoints 1-2 (BP1-BP2) region and lack of association with a specific phenotype,…”
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Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes by Carson, Jason C., Hoffner, Lori, Conlin, Laura, Parks, W. Tony, Fisher, Rosemary A., Spinner, Nancy, Yatsenko, Svetlana A., Bonadio, Jeffrey, Surti, Urvashi

“…Triploidy is the presence of an extra haploid set of chromosomes and can exist in complete or mosaic form. The extra haploid set of chromosomes in triploid…”
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Recent advances of genomic testing in perinatal medicine by Peters, David G., PhD, Yatsenko, Svetlana A., MD, Surti, Urvashi, PhD, Rajkovic, Aleksandar, PhD, MD

“…Abstract Rapid progress in genomic medicine in recent years has made it possible to diagnose subtle genetic abnormalities in a clinical setting on routine…”
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Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta by Surti, Urvashi, Yatsenko, Svetlana, Hu, Jie, Bellissimo, Daniel, Parks, W. Tony, Hoffner, Lori

“…Abstract Introduction The genetics and pathology of diploid complete and triploid partial hydatidiform moles have been well established. Enlarged cystic…”
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