Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Va Lip"'
Publikováno v:
BMC Medical Informatics and Decision Making, Vol 18, Iss 1, Pp 1-5 (2018)
Abstract Background Trio studies, which involve the testing of samples from a proband and both parents, are often used by clinical laboratories to help with the classification of genetic variants, including copy number variants. In order for the resu
Externí odkaz:
https://doaj.org/article/e82767e022db4a60b3d4373812cc1de9
Autor:
Xiaoli Chen, Yiping Shen, Yonghui Gao, Huizhi Zhao, Xiaoming Sheng, Jizhen Zou, Va Lip, Hua Xie, Jin Guo, Hong Shao, Yihua Bao, Jianliang Shen, Bo Niu, James F Gusella, Bai-Lin Wu, Ting Zhang
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e54492 (2013)
BACKGROUND: Neural tube defects (NTDs) are one of the most common birth defects caused by a combination of genetic and environmental factors. Currently, little is known about the genetic basis of NTDs although up to 70% of human NTDs were reported to
Externí odkaz:
https://doaj.org/article/0afbeaeef77f408fbaff8c2bf7845a48
Autor:
Harrison K. Tsai, Tasos Gogakos, Va Lip, Jonathan Tsai, Yen-Der Li, Adam Fisch, Jonathan Weiss, Leslie Grimmett, Thai Hoa Tran, Maxime Caron, Sylvie Langlois, Daniel Sinnett, Yana Pikman, Annette S. Kim, Valentina Nardi, Lewis B. Silverman, Marian H. Harris
Recognition of aberrant gene isoforms indicative of underlying DNA events can impact molecular classification and risk stratification of B lymphoblastic leukemia (B-ALL). Aberrant ERG isoforms have been proposed as markers of the favorable-risk DUX4-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c439b5afa1144b5504c187d6dcbc4382
https://doi.org/10.1101/2022.07.29.22278149
https://doi.org/10.1101/2022.07.29.22278149
Autor:
R. Seth Pinches, Samantha Cano, Sanda Alexandrescu, Katherine A. Janeway, Alyaa Al-Ibraheemi, Alanna J. Church, Tamara Restrepo, Juan Putra, Va Lip, Sekhar Duraisamy, Harrison Tsai, Marian H. Harris
Publikováno v:
The Journal of molecular diagnostics : JMD. 23(10)
Alterations in the BCOR gene, including internal tandem duplications (ITDs) of exon 15 have emerged as important oncogenic changes that define several diagnostic entities. In pediatric cancers, BCOR ITDs have recurrently been described in clear cell
Autor:
J Cantave, Harrison Tsai, Marian H. Harris, H Harris, W Yang, Alanna J. Church, C Diaz, Va Lip, Leslie Grimmett
Publikováno v:
American Journal of Clinical Pathology. 156:S112-S113
Introduction/Objective Rhabomyosarcomas (RMS) are a group of skeletal muscle tumors that include embryonal, alveolar, pleomorphic, spindle cell/sclerosing subtypes (SC/SRMS). Spindle cell RMS occurs in both adult and pediatric populations, and is ass
Publikováno v:
BMC Medical Informatics and Decision Making
BMC Medical Informatics and Decision Making, Vol 18, Iss 1, Pp 1-5 (2018)
BMC Medical Informatics and Decision Making, Vol 18, Iss 1, Pp 1-5 (2018)
Background Trio studies, which involve the testing of samples from a proband and both parents, are often used by clinical laboratories to help with the classification of genetic variants, including copy number variants. In order for the results of th
Autor:
Joseph Gonzalez-Heydrich, Alan H. Beggs, Sahil Tembulkar, Jason M. Fogler, Devon Carroll, Robin J. Kleiman, Kaya Bilguvar, Timothy W. Yu, Va Lip, Jonathan Picker, Elizabeth C. Engle, Rachel C. O. Schmitt, Eugene J. D'Angelo, Kyle O'Donnell, Yiping Shen, April Kim, Robert Wolff, Catherine A. Brownstein, Meghan C. Towne
Publikováno v:
American Journal of Medical Genetics Part A. 170:1165-1173
Copy number variability at 16p13.11 has been associated with intellectual disability, autism, schizophrenia, epilepsy, and attention-deficit hyperactivity disorder. Adolescent/adult- onset psychosis has been reported in a subset of these cases. Here,
Protocol for implementing the R-script. (DOCX 167 kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a772972d2eb26d3abfde809659619f62
Autor:
Tristen Ross, Anastasia Nikiforov, Rebecca Batorsky, Evan Mauceli, Marcia M. Nizzari, Niru Chennagiri, Alexander Frieden, Patrice M. Milos, Timothy W. Yu, Eric J. White, Daniel S. Lieber, Lovelace J. Luquette, Nichole Napolitano, Va Lip, John F. Thompson, Sherry Hansen, David H. Margulies, Edgardo Lopez
Publikováno v:
Scientific Reports
Next generation sequencing is a transformative technology for discovering and diagnosing genetic disorders. However, high-throughput sequencing remains error-prone, necessitating variant confirmation in order to meet the exacting demands of clinical
Autor:
Yijun Li, Yiping Shen, Va Lip, Chao-Yu Guo, Susan E. Waisbren, Gerard T. Berry, David T. Miller, Catherine M. Gordon, Jennifer K. Gentile, Leah Hecht, Bai-Lin Wu, Inge Timmers, Estela Rubio-Gozalbo, Vera Anastasoaie, Donald L. Schomer, Frances Rohr, Nancy L. Potter, Nicolle Quinn, Amy Skinder-Meredith, Corrine K. Welt, Robert C. Green, Louis J. Elsas, Michael F. Murray, Harvey L. Levy, Patricia E. Greenstein, Bernadette M. Jansma, Roberta Jackson, Cynthia S. Gubbels, Kali D’Anna, Leslie Power, Ann Wessel, Rachel A. Tunick
Publikováno v:
Journal of Inherited Metabolic Disease, 32(2), 279-286. Wiley
BACKGROUND: Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both s