Results 31 to 40 of about 823,839 (283)
Characterisation and validation of insertions and deletions in 173 patient exomes. [PDF]
, 2012 Recent advances in genomics technologies have spurred unprecedented efforts in genome and exome re-sequencing aiming to unravel the genetic component of rare and complex disorders.Bonfiglio S., Francesco Lescai, Henry Houlden (110428), Williams Julie, Richard Williams (29445), Donna Mackay (110441), Hubank M., John Hardy (23295), Kasperavičiūtė, D, John C. Achermann (110416), Bacchelli, C, Denise Harold, Sisodiya Sanjay M., Bacchelli C., Henry Houlden, Tonini G. P., Hardy John, David Kelsell (110422), Hardy, J, Bonfiglio, S, Harold D., Silvia Bonfiglio (110384), Kelsell, D, Kelsell David, Wood N., Elia Stupka (23015), Harold, D, Kasperaviciute D., Jane Sowden (110446), Beales, P, Chiara Bacchelli (110388), Tonini, GP, Lescai, F, Kleta R., Aoife Waters, Vulliamy Tom, Osinska Justyna, Jane Sowden, Justyna Osinska (110450), Lescai Francesco, Sheerin, U, Estelle Chanudet (110393), Tony Brooks (110451), Kasperavičiūtė Dalia, Philip Beales (110453), Hubank Mike, Estelle Chanudet, Una Sheerin (110436), Houlden Henry, Beales P., Silvia Bonfiglio, Williams J., Bacchelli Chiara, Kleta, R, Sebahattin Cirak, Kinsler V., Anderson J., Williams R., Elia Stupka, Brooks Tony, Sowden, J, Veronica Kinsler, Houlden, H, Chanudet, E, Hardy J., Anderson John, Dalia Kasperavičiūtė (110404), Mackay, D, Sheerin Una, Anderson, J, Sowden J., Williams, R, Waters Aoife, Achermann John C., Williams, J, Stupka, E, Harold Denise, Tom Vulliamy, Brooks T., Mackay Donna, Achermann J. C., Sisodiya S. M., Stupka Elia, Nicholas Wood (110432), Sanjay M. Sisodiya (110401), John Anderson (11218), Houlden H., Julie Williams, John C Achermann, Gian Paolo Tonini, Julie Williams (110407), John Hardy, Stupka E., Beales Philip, Lescai F., Wood Nicholas, Wood, N, Mackay D., Cirak, S, Justyna Osinska, Philip Beales, Tonini Gian Paolo, Richard Williams, Una Sheerin, Cirak S., Veronica Kinsler (110449), Kinsler Veronica, John Anderson, Mike Hubank, Dalia Kasperavičiūtė, Sisodiya, SM, Gian Paolo Tonini (110438), Cirak Sebahattin, Hussain Khalid, Denise Harold (110410), Francesco Lescai (110380), Chanudet E., Chanudet Estelle, Hubank, M, Williams Richard, David Kelsell, Robert Kleta, Waters, A, Donna Mackay, Khalid Hussain, Sowden Jane, Achermann, JC, Sanjay M Sisodiya, Sebahattin Cirak (110413), Robert Kleta (56515), Mike Hubank (110452), Vulliamy T., Hussain, K, Bonfiglio Silvia, Nicholas Wood, Kleta Robert, Tom Vulliamy (110425), Osinska, J, Brooks, T, Tony Brooks, Hussain K., Waters A., Kelsell D., Chiara Bacchelli, Aoife Waters (110398), Khalid Hussain (110443), Vulliamy, T, Osinska J., Sheerin U., Kinsler, V +149 morecore +1 more sourceRapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. [PDF]
, 2011 Background: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all ...Ostergaard, P, Connell, Fiona C., Simpson, MA, S. Mansour, G. Brice, P. S. Mortimer, Connell, FC, Jeffery, S, M. A. Simpson, Child, Anne H., Mansour, S, R. Trembath, F. C. Connell, A. Onoufriadis, Trembath, Richard, Mortimer, Peter S, Mortimer, Peter S., Mansour, Sahar, Kalidas, Kamini, Trembath, R, Brice, Glen, Child, AH, P. Ostergaard, Jeffery, Steve, Mortimer, PS, Ostergaard, Pia, J. Hwang, K. Kalidas, A. H. Child, Hwang, J, Simpson, Michael A, Onoufriadis, A, Connell, Fiona, S. Jeffery, Simpson, Michael A., Brice, G, Hwang, Jae, Kalidas, K, Onoufriadis, Alexandros, Child, Anne H +39 morecore +1 more sourceDetection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing
Neoplasia: An International Journal for Oncology Research, 2011 The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).Robert J. Lonigro, Catherine S. Grasso, Dan R. Robinson, Xiaojun Jing, Yi-Mi Wu, Xuhong Cao, Michael J. Quist, Scott A. Tomlins, Kenneth J. Pienta, Arul M. Chinnaiyan +9 moredoaj +1 more sourceDiagnostic applications of next generation sequencing: working towards quality standards [PDF]
, 2012 Over the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major Klein, Hanns-Georg, Biskup, S., Vogl, Ina, Hirv, K., Greif, P.A., Kotschote, S., Gehring, A., Kuhn, M., Stuhrmann, Manfred, Bergmann, C., Eck, Sebastian H., Biskup, Saskia, Metzeler, Klaus H., Greif, Philipp A., Stuhrmann, M., Bolz, Hanno Joern, Benet-Pages, Anna, Hirv, Kaimo, Benet-Pagès, A., Klein, H.G., Vogl, I., Bolz, H.J., Kuhn, Marius, Kotschote, Stefan, Gehring, Andrea, Bergmann, Carsten, Metzeler, K.H., Eck, S.H. +27 morecore +1 more sourceClinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders
Frontiers in Genetics, 2023 Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric ...Maayan Kagan, Maayan Kagan, Maayan Kagan, Rotem Semo-Oz, Rotem Semo-Oz, Rotem Semo-Oz, Yishay Ben Moshe, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Irit Tirosh, Irit Tirosh, Michal Stern-Zimmer, Michal Stern-Zimmer, Aviva Eliyahu, Aviva Eliyahu, Annick Raas-Rothschild, Annick Raas-Rothschild, Maayan Bivas, Maayan Bivas, Omer Shlomovitz, Omer Shlomovitz, Odelia Chorin, Odelia Chorin, Odelia Chorin, Rachel Rock, Rachel Rock, Rachel Rock, Michal Tzadok, Michal Tzadok, Bruria Ben-Zeev, Bruria Ben-Zeev, Gali Heimer, Gali Heimer, Gali Heimer, Yoav Bolkier, Yoav Bolkier, Noah Gruber, Noah Gruber, Noah Gruber, Adi Dagan, Adi Dagan, Adi Dagan, Bat El Bar Aluma, Bat El Bar Aluma, Bat El Bar Aluma, Itai M. Pessach, Itai M. Pessach, Itai M. Pessach, Gideon Rechavi, Gideon Rechavi, Gideon Rechavi, Ortal Barel, Ortal Barel, Ortal Barel, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked, Yair Anikster, Yair Anikster, Yair Anikster, Asaf Vivante, Asaf Vivante, Asaf Vivante, Asaf Vivante +65 moredoaj +1 more sourceExome Sequencing to Predict Neoantigens in Melanoma [PDF]
Cancer Immunology Research, 2015 Abstract The ability to use circulating peripheral blood cells and matched tumor sequencing data as a basis for neoantigen prediction has exciting possibilities for application in the personalized treatment of cancer patients. We have used a high-throughput screening approach, combining whole-exome sequence data, mRNA microarrays, and Pritchard, Antonia L, Burel, Julie G, Neller, Michelle A, Hayward, Nicholas K, Lopez, J Alejandro, Fatho, Martina, Lennerz, Volker, Woelfel, Thomas, Schmidt, Christopher W +8 moreopenaire +5 more sourcesMegalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations [PDF]
, 2014 Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly?-hydrocephalus(MPPH), have recently been defined on the basis of physical and neuroimaging features.Cross, Nicholas C. P., Hidalgo-Curtis, Claire, Claire Hidalgo-Curtis (518402), Score, Joannah, Gibson, Jane, Sarah Ennis, Jane Gibson, I Karen Temple, Andrew Collins, Andrew Collins (63814), Nicola Foulds, Paula Aranaz (518400), Foulds, Nicola, Claire Hidalgo-Curtis, I. Karen Temple (518404), Sarah Ennis (435142), David O. Robinson (518403), Temple, I. Karen, William J Tapper, Paula Aranaz, Collins, Andrew, Joannah Score, Nicola Foulds (518399), Joannah Score (518401), Tapper, William J., Robinson, David O., William J. Tapper (518398), Ennis, Sarah, David O Robinson, Aranaz, Paula, Nicholas C P Cross, Jane Gibson (497328), Nicholas C. P. Cross (185184) +32 morecore +1 more sourceWhole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability [PDF]
, 2014 Background: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios.Baralle, Diana, The DDD study, Swoboda, KJ, Taft, R, Magee, A. C., Swoboda, Kathryn J., Taft, R., Turnpenny, Peter D., Baralle, D., Swodboda, Kathryn J., Baralle, D, Hunt, D, Magee, A.C., Turnpenny, Perter D., Taft, Ryan J., Hunt, David, Gawne-Cain, M, Hunt, D., Turnpenny, P.D., Gawne-Cain, M., Simons, C, Leventer, R. J., D. D. D. study, Simons, C., Gwan-Cain, Mary, Magee, AC, Taft, Ryan, Turnpenny, PD, Swoboda, K. J., Simons, Cas, Gawne-Cain, Mary, Leventer, Richard J., Leventer, R.J., Leventer, RJ, Swoboda, K.J., Magee, Alex C. +35 morecore +1 more source
