Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Inessa Hakker"'
Autor:
Dong Liang, Kirk M McHugh, Pat D Brophy, Nader Shaikh, J Robert Manak, Peter Andrews, Inessa Hakker, Zihua Wang, Andrew L Schwaderer, David S Hains
Publikováno v:
PLoS ONE, Vol 14, Iss 8, p e0220617 (2019)
Vesicoureteral reflux (VUR) is a complex, heritable disorder. Genome-wide linkage analyses of families affected by VUR have revealed multiple genomic loci linked to VUR. These loci normally harbor a number of genes whose biologically functional varia
Externí odkaz:
https://doaj.org/article/abe8a36d8bb7487d9ac0f2115dde8d7d
Autor:
Koichi Iijima, Hsueh-Cheng Chiang, Stephen A Hearn, Inessa Hakker, Anthony Gatt, Christopher Shenton, Linda Granger, Amy Leung, Kanae Iijima-Ando, Yi Zhong
Publikováno v:
PLoS ONE, Vol 3, Iss 2, p e1703 (2008)
Aggregation of the amyloid-beta-42 (Abeta42) peptide in the brain parenchyma is a pathological hallmark of Alzheimer's disease (AD), and the prevention of Abeta aggregation has been proposed as a therapeutic intervention in AD. However, recent report
Externí odkaz:
https://doaj.org/article/6ac9f0014d1c45a1a2a3f517597fc1ea
Autor:
Alexander Krasnitz, Michael Wigler, James Hicks, Herbert Lepor, Lloyd C. Trotman, Gurinder Atwal, Brian Robinson, Shalini S. Yadav, Siobhan Gruschow, Abhishek Srivastava, Elton Llukani, Juliana Laze, Dawid G. Nowak, Inessa Hakker, Hilary Cox, Michael Riggs, Lubomir Chobardjiev, Guoli Sun, Asya Stepansky, Dan Levy, Robert Aboukhalil, Linda Rodgers, Jean McIndoo, Jude Kendall, Joan Alexander
Summary of downsampling study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17b90e9d98bd16d082d42ce320dc0531
https://doi.org/10.1158/0008-5472.22417632.v1
https://doi.org/10.1158/0008-5472.22417632.v1
Autor:
Alexander Krasnitz, Michael Wigler, James Hicks, Herbert Lepor, Lloyd C. Trotman, Gurinder Atwal, Brian Robinson, Shalini S. Yadav, Siobhan Gruschow, Abhishek Srivastava, Elton Llukani, Juliana Laze, Dawid G. Nowak, Inessa Hakker, Hilary Cox, Michael Riggs, Lubomir Chobardjiev, Guoli Sun, Asya Stepansky, Dan Levy, Robert Aboukhalil, Linda Rodgers, Jean McIndoo, Jude Kendall, Joan Alexander
A distinction between indolent and aggressive disease is a major challenge in diagnostics of prostate cancer. As genetic heterogeneity and complexity may influence clinical outcome, we have initiated studies on single tumor cell genomics. In this stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0825d02064561e7384a09d17d723523f
https://doi.org/10.1158/0008-5472.c.6509898.v1
https://doi.org/10.1158/0008-5472.c.6509898.v1
Autor:
Alexander Krasnitz, Michael Wigler, James Hicks, Herbert Lepor, Lloyd C. Trotman, Gurinder Atwal, Brian Robinson, Shalini S. Yadav, Siobhan Gruschow, Abhishek Srivastava, Elton Llukani, Juliana Laze, Dawid G. Nowak, Inessa Hakker, Hilary Cox, Michael Riggs, Lubomir Chobardjiev, Guoli Sun, Asya Stepansky, Dan Levy, Robert Aboukhalil, Linda Rodgers, Jean McIndoo, Jude Kendall, Joan Alexander
A PDF file containing Supplementary case reports
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595e3a79f42024e6afccafcf6b102662
https://doi.org/10.1158/0008-5472.22417626.v1
https://doi.org/10.1158/0008-5472.22417626.v1
Autor:
Ferrah London, Inessa Hakker, Peter Andrews, Vaidehi Jobanputra, Michael Ronemus, Kazimierz O. Wrzeszczynski, Lukasz Kozon, Avinash Abhyankar, Vanessa Felice, Dino Robinson
Publikováno v:
J Mol Diagn
Chromosomal microarray testing is indicated for patients with diagnoses including unexplained developmental delay or intellectual disability, autism spectrum disorders, and multiple congenital anomalies. The short multiply aggregated sequence homolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee2308a089c2f07f80ba193c36d4f58
https://doi.org/10.1016/j.jmoldx.2020.09.009
https://doi.org/10.1016/j.jmoldx.2020.09.009
Autor:
James W. Hicks, Inessa Hakker, Gurinder S. Atwal, Jude Kendall, Joan Alexander, Linda Rodgers, Lubomir Chobardjiev, Shalini S. Yadav, Dan Levy, Robert Aboukhalil, Asya Stepansky, Lloyd C. Trotman, Brian D. Robinson, Michael Wigler, Abhishek Kumar Srivastava, Michael Riggs, Elton Llukani, Alexander Krasnitz, Juliana Laze, Siobhan Gruschow, Herbert Lepor, Jean McIndoo, Guoli Sun, Hilary Cox, Dawid G. Nowak
Publikováno v:
Cancer Research. 78:348-358
A distinction between indolent and aggressive disease is a major challenge in diagnostics of prostate cancer. As genetic heterogeneity and complexity may influence clinical outcome, we have initiated studies on single tumor cell genomics. In this stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aa8d57485a99210baf0d0374e2af08e
https://doi.org/10.1158/0008-5472.can-17-1138
https://doi.org/10.1158/0008-5472.can-17-1138
Autor:
Nader Shaikh, J. Robert Manak, Kirk M. McHugh, Dong Liang, Patrick D. Brophy, David S. Hains, Peter W. Andrews, Zihua Wang, Andrew L. Schwaderer, Inessa Hakker
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 8, p e0220617 (2019)
PLoS ONE, Vol 14, Iss 8, p e0220617 (2019)
Vesicoureteral reflux (VUR) is a complex, heritable disorder. Genome-wide linkage analyses of families affected by VUR have revealed multiple genomic loci linked to VUR. These loci normally harbor a number of genes whose biologically functional varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a3e7af85f30499e98336e931c22f8b5
http://europepmc.org/articles/PMC6690579
http://europepmc.org/articles/PMC6690579
Autor:
Stephen Sanders, Deborah A. Nickerson, Michael Ronemus, Luis E. Gonzalez, Michael F. Walker, Kali Witherspoon, Shan Dong, Niklas Krumm, Jeffrey D. Mandell, Catherine A.W. Sullivan, Laura Vives, Giuseppe Narzisi, Boris Yamrom, Brian J. O'Roak, A. Jeremy Willsey, Jude Kendall, Jay Shendure, Karynne E. Patterson, Ewa A. Grabowska, Jeanselle Dea, Ivan Iossifov, Michael Wigler, Inessa Hakker, Michael C. Schatz, Dan Levy, Ertugrul Dalkic, Zainulabedin Waqar, Bryan W. Paeper, Beicong Ma, Jennifer Troge, Kenny Ye, Matthew W. State, Anthony Leotta, Peter Andrews, Linda Rodgers, Zihua Wang, Yoon-ha Lee, Holly A.F. Stessman, Seungtai Yoon, Evan E. Eichler, Joshua D. Smith, Steven Marks, Michael T. Murtha, Julie Rosenbaum, Liping Wei, Shrikant Mane, W. Richard McCombie
Publikováno v:
Nature. 515:216-221
Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b4fb8edeee729b043d00cb95f963117
https://doi.org/10.1038/nature13908
https://doi.org/10.1038/nature13908
Autor:
Anthony Leotta, Steven Marks, Ivan Iossifov, Lucinda Fulton, Kith Pradhan, Peter Andrews, Linda Rodgers, Michael Wigler, Beicong Ma, Richard W. McCombie, Jennifer Troge, Elena Ghiban, Ryan Demeter, Robert S. Fulton, Julie Rosenbaum, Asya Stepansky, Vincent Magrini, Yoon-ha Lee, Kenny Ye, Jennifer Parla, Richard K. Wilson, Robert B. Darnell, Boris Yamrom, Inessa Hakker, Jennifer C. Darnell, Michael Ronemus, Michael C. Schatz, Dan Levy, Elaine R. Mardis, Zihua Wang, Giuseppe Narzisi, Melissa Kramer, Jude Kendall, Mitchell A. Bekritsky, Ewa A. Grabowska
Publikováno v:
Neuron. 74(2):285-299
SummaryExome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::436dac00dfb388b306cc1884918b76cf