Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Amanda Merkelson"'
Autor:
Noura S. Abul-Husn, Emily R. Soper, Giovanna T. Braganza, Jessica E. Rodriguez, Natasha Zeid, Sinead Cullina, Dean Bobo, Arden Moscati, Amanda Merkelson, Ruth J. F. Loos, Judy H. Cho, Gillian M. Belbin, Sabrina A. Suckiel, Eimear E. Kenny
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Background Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to und
Externí odkaz:
https://doaj.org/article/622c943747f5441b88bd76675c60c7ad
Autor:
Gillian Morven Belbin, Jacqueline Odgis, Elena P Sorokin, Muh-Ching Yee, Sumita Kohli, Benjamin S Glicksberg, Christopher R Gignoux, Genevieve L Wojcik, Tielman Van Vleck, Janina M Jeff, Michael Linderman, Claudia Schurmann, Douglas Ruderfer, Xiaoqiang Cai, Amanda Merkelson, Anne E Justice, Kristin L Young, Misa Graff, Kari E North, Ulrike Peters, Regina James, Lucia Hindorff, Ruth Kornreich, Lisa Edelmann, Omri Gottesman, Eli EA Stahl, Judy H Cho, Ruth JF Loos, Erwin P Bottinger, Girish N Nadkarni, Noura S Abul-Husn, Eimear E Kenny
Publikováno v:
eLife, Vol 6 (2017)
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder
Externí odkaz:
https://doaj.org/article/2d12ca3f02f1483fbfe397e1124b87d3
Autor:
Joshua B. Rubin, David H. Gutmann, Joshua D. Schiffman, Jeffrey C. Allen, Uri Tabori, Michael J. Fisher, Karlyne M. Reilly, Jason T. Forys, Todd E. Druley, David Viskochil, David A. Stevenson, Douglas R. Stewart, Amanda Merkelson, Anne C. Albers, Debra Spoljaric, Sara Ganzhorn, Patricia C. Parkin, Robert C. McKinstry, Jingqin Luo, Tao Sun, Nicole M. Warrington
Supplemental Table 3. Primer sequences.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4f70360ba51f1646bc2507f33ad8ee
https://doi.org/10.1158/0008-5472.22406085
https://doi.org/10.1158/0008-5472.22406085
Autor:
Joshua B. Rubin, David H. Gutmann, Joshua D. Schiffman, Jeffrey C. Allen, Uri Tabori, Michael J. Fisher, Karlyne M. Reilly, Jason T. Forys, Todd E. Druley, David Viskochil, David A. Stevenson, Douglas R. Stewart, Amanda Merkelson, Anne C. Albers, Debra Spoljaric, Sara Ganzhorn, Patricia C. Parkin, Robert C. McKinstry, Jingqin Luo, Tao Sun, Nicole M. Warrington
Supplemental Table 2: List of SNPs analyzed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1146c6d3e6309f8761bc9385a5813735
https://doi.org/10.1158/0008-5472.22406088
https://doi.org/10.1158/0008-5472.22406088
Autor:
Joshua B. Rubin, David H. Gutmann, Joshua D. Schiffman, Jeffrey C. Allen, Uri Tabori, Michael J. Fisher, Karlyne M. Reilly, Jason T. Forys, Todd E. Druley, David Viskochil, David A. Stevenson, Douglas R. Stewart, Amanda Merkelson, Anne C. Albers, Debra Spoljaric, Sara Ganzhorn, Patricia C. Parkin, Robert C. McKinstry, Jingqin Luo, Tao Sun, Nicole M. Warrington
Supplemental Table 1: Specimen Characteristics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386b672bd56ed0549bd4e6631abc9e90
https://doi.org/10.1158/0008-5472.22406091
https://doi.org/10.1158/0008-5472.22406091
Autor:
Giovanna T. Braganza, Emily R. Soper, Ruth J. F. Loos, Noura S. Abul-Husn, Sinead Cullina, Amanda Merkelson, Judy H. Cho, Arden Moscati, Jessica E. Rodriguez, Dean Bobo, Gillian M. Belbin, Sabrina A. Suckiel, Natasha Zeid, Eimear E. Kenny
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-11 (2021)
Genome Medicine
Genome Medicine
BackgroundPopulation-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand th
Autor:
Karlyne M. Reilly, Jingqin Luo, Anne C. Albers, David A. Stevenson, Douglas R. Stewart, David H. Gutmann, Uri Tabori, Debra Spoljaric, Tao Sun, David Viskochil, Joshua D. Schiffman, Michael Fisher, Robert C. McKinstry, Nicole M. Warrington, Jason T. Forys, Amanda Merkelson, Patricia C. Parkin, Sara Ganzhorn, Joshua B. Rubin, Jeffrey C. Allen, Todd E. Druley
Publikováno v:
Cancer Research. 75:16-21
Identifying modifiers of glioma risk in patients with type I neurofibromatosis (NF1) could help support personalized tumor surveillance, advance understanding of gliomagenesis, and potentially identify novel therapeutic targets. Here, we report genet
Autor:
Omri Gottesman, Ruth J. F. Loos, Elena P. Sorokin, Jacqueline A. Odgis, Lisa Edelmann, Muh-Ching Yee, Janina M. Jeff, Eimear E. Kenny, Claudia Schurmann, Ruth Kornreich, Amanda Merkelson, Douglas M. Ruderfer, Benjamin S. Glicksberg, Michael D. Linderman, Sumita Kohli, Kristin L. Young, Regina James, Misa Graff, Christopher R. Gignoux, Kari E. North, Lucia A. Hindorff, Anne E. Justice, Judy H. Cho, Tielman Van Vleck, Noura S. Abul-Husn, Genevieve L. Wojcik, Gillian M. Belbin, Ulrike Peters, Erwin P. Bottinger, Girish N. Nadkarni, Xiaoqiang Cai, Eli A. Stahl
Publikováno v:
eLife, Vol 6 (2017)
eLife
eLife
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder
Autor:
Kristin L. Young, Misa Graff, Douglas M. Ruderfer, Janina M. Jeff, Ruth J. F. Loos, Amanda Merkelson, Kari E. North, Benjamin S. Glicksberg, Eli Ea Stahl, Elena P. Sorokin, Regina James, Girish N. Nadkarni, Jacqueline A. Odgis, Lisa Edelmann, Noura S. Abul-Husn, Judy H. Cho, Tielman Van Vleck, Genevieve L. Wojcik, Sumita Kohli, Ulrike Peters, Christopher R. Gignoux, Ruth Kornreich, Gillian M. Belbin, Eimear E. Kenny, Lucia A. Hindorff, Erwin P. Bottinger, Michael D. Linderman, Muh-Ching Yee, Anne E. Justice, Claudia Schurmann, Xiaoqiang Cai, Omri Gottesman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cefa203941521304bfc019b47fa4ad08
https://doi.org/10.7554/elife.25060.033
https://doi.org/10.7554/elife.25060.033
Autor:
Anna Derman, Emilio Vega, Amanda Merkelson, J. Thomas Roland, Tsivia Hochman, Jeffrey H. Wisoff, Matthias A. Karajannis, Mari Hagiwara, Geneviève Legault, Filippo G. Giancotti, Judith D. Goldberg, Jeffrey C. Allen, John G. Golfinos, Alexander Filatov
Publikováno v:
Neuro-Oncology. 16:292-297
Activation of the mammalian target of rapamycin (mTOR) signaling pathway is thought to be a key driver of tumor growth in Merlin (NF2)-deficient tumors. Everolimus is an oral inhibitor of mTOR complex 1 (mTORC1) with antitumor activity in a variety o