Zobrazeno 111 - 120
of 449
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Xiao Fan, Leslie G. Biesecker, Lita A. Freeman, Scott M. Gordon, Milton Pryor, Alan T. Remaley, Zhi-Hong Yang, Edward B. Neufeld, Iftikhar J. Kullo
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports
Scientific Reports
Regulation of lipid absorption by enterocytes can influence metabolic status in humans and contribute to obesity and related complications. The intracellular steps of chylomicron biogenesis and transport from the Endoplasmic Reticulum (ER) to the Gol
Autor:
Paul Jarosinski, Staci Martin, Neera R. Nathan, Mohammadhadi Bagheri, Brigitte C. Widemann, Julie C. Sapp, Pamela L. Wolters, Ronald E. Savage, Ashlyn Gruber, Marjorie J. Lindhurst, Scott M. Paul, Eva Dombi, Brian Schwartz, Leslie G. Biesecker, Thomas N. Darling, Kim M. Keppler-Noreuil, Jasmine Burton-Akright
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. There are no effective treatments for Proteus syndrome. Miransertib is an AKT1 inhibitor that, prior to this study, has been evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d7abeed1fc81a195fe0f605c672bc5f
https://europepmc.org/articles/PMC6407523/
https://europepmc.org/articles/PMC6407523/
Autor:
Leslie G. Biesecker
Publikováno v:
Management of Genetic Syndromes ISBN: 0471695998
Proteus syndrome is an exceedingly rare disorder, perhaps the least common of all overgrowth syndromes but one of the most distinctive because of its segmental nature and unrelenting progression. Proteus syndrome occurs sporadically and was the first
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a57b6e051909d68e8be2777f9079e09
https://doi.org/10.1093/med/9780190944896.003.0011
https://doi.org/10.1093/med/9780190944896.003.0011
Autor:
Julie C. Sapp, Marjorie J. Lindhurst, Jasmine Shwetar, Leslie G. Biesecker, Thomas N. Darling, Jasmine Burton-Akright, Kim M. Keppler-Noreuil
Publikováno v:
Cold Spring Harbor molecular case studies. 5(4)
The clinical diagnostic criteria for Proteus syndrome were defined before the discovery of the AKT1 c.49G>A; p.(Glu17Lys) causal variant and used a combination of general and specific phenotypic attributes that could be combined to make a clinical di
Autor:
Zaid Afawi, Barbara A. Bernhardt, Barbara B. Biesecker, Leslie G. Biesecker, Christian G. Bouwkamp, Candice Cornelis, Guido de Wert, Karin Diderich, Wybo Dondorp, Robert-Jan Galjaard, Heidi Carmen Howard, A. Cecile J.W. Janssens, William M.P. Klein, Steven A. Kushner, Emilia Niemiec, Sam Riedijk, Gosia Srebniak, Aad Tibben, Erin Turbitt, Joel Vos, Marc S. Williams, Roel H.P. Wouters
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca3e38cae450b4c1bd09300f2b6c5538
https://doi.org/10.1016/b978-0-12-813335-4.00019-2
https://doi.org/10.1016/b978-0-12-813335-4.00019-2
Genome sequencing expands the reach of genetic testing by interrogating the entire genome. This new technology has facilitated the diagnosis of rare and undiagnosed conditions, identified genes that contribute to complex autism, cancer, and cardiovas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ff44ce2e01bd5896479b53f0c60141a
https://doi.org/10.1016/b978-0-12-813335-4.00002-7
https://doi.org/10.1016/b978-0-12-813335-4.00002-7
Autor:
Ketty Peris, Jennifer T. Loud, Maisa Pinheiro, Alexander Pemov, Stephen J. Chanock, Seth A. Brodie, Susana Puig, Jennifer J. Johnston, Maria Concetta Fargnoli, Joshua N. Sampson, Xiaohong R. Yang, Payal P. Khincha, Lindsay M. Morton, Sharon A. Savage, Talia Wegman-Ostrosky, Megan N. Frone, Neil E. Caporaso, Eduardo Nagore, Lisa J. McReynolds, Shahinaz M. Gadalla, Mingyi Wang, Michael L. Nickerson, Paola Ghiorzo, Mark H. Greene, Mary L. McMaster, Kelvin C. de Andrade, Mia M. Gaudet, Michael Dean, Bin Zhu, Leslie G. Biesecker, Donato Calista, Belynda Hicks, Margaret A. Tucker, Jia Liu, Wen Luo, Maria Isabel Achatz, Matthew Gianferante, Lisa Mirabello, Neal D. Freedman, Melissa Rotunno, Lynn R. Goldin, Jung Kim, Alisa M. Goldstein, Shengchao A. Li, Blanche P. Alter, Fernanda P. Fortes, Douglas R. Stewart, Maria Teresa Landi, Susan M. Gapstur, Karina Miranda Santiago
Publikováno v:
Genome Medicine
Genome Medicine, Vol 10, Iss 1, Pp 1-9 (2018)
Genome Medicine, Vol 10, Iss 1, Pp 1-9 (2018)
Background Prior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investigated the p
Autor:
Christa Lese Martin, Noralane M. Lindor, Nara Sobriera, Erin M. Ramos, Jessica Ezzell Hunter, Orit Dagan-Rosenfeld, Katrina A.B. Goddard, Meredith A. Weaver, Kathleen F. Mittendorf, Marc S. Williams, Kristy Lee, Kristin R. Muessig, Aleksandar Milosavljevic, Ronak Y. Patel, Anne Slavotinek, Shannon Rego, Elizabeth M. Webber, James P. Evans, Leslie G. Biesecker, Julianne M. O’Daniel, Erin Currey, Elizabeth V. Clarke, Adam H. Buchanan
The use of genome-scale sequencing allows for identification of genetic findings beyond the original indication for testing (secondary findings). The ClinGen Actionability Working Group’s (AWG) protocol for evidence synthesis and semi-quantitative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::991984b84ff9a2357404bb3b659abf10
https://europepmc.org/articles/PMC6211797/
https://europepmc.org/articles/PMC6211797/
Autor:
Frank Angelo, Galen Joseph, Gregory M. Cooper, Ragan Hart, Mimsie Robinson, Barbara B. Biesecker, Pui-Yan Kwok, Sarah Scollon, Kristen Hassmiller-Lich, Benyam Hailu, Stephanie M. Fullerton, Mary E. Norton, Kelly M. East, Bruce D. Gelb, Jonathan S. Berg, Benjamin S. Wilfond, Neil Risch, Leslie G. Biesecker, Kelly K. Filipski, Melissa P. Wasserstein, Laura M. Amendola, Jeffrey Ou, Christine Rini, Sara J. Knight, Donald W. Parsons, Bradford C. Powell, Anne Slavotinek, Barbara A. Koenig, Jeannette T. Bensen, Katrina A.B. Goddard, Amy L. McGuire, Katie L. Lewis, Gail P. Jarvik, Carol R. Horowitz, Sharon E. Plon, Eimear E. Kenny, Lucia A. Hindorff, David L. Veenstra
Publikováno v:
Amendola, LM; Berg, JS; Horowitz, CR; Angelo, F; Bensen, JT; Biesecker, BB; et al.(2018). The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. American Journal of Human Genetics, 103(3), 319-327. doi: 10.1016/j.ajhg.2018.08.007. UCSF: Retrieved from: http://www.escholarship.org/uc/item/5463d72d
© 2018 American Society of Human Genetics The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aebf27e453128206d9f3db42e1ff2e1b
http://www.escholarship.org/uc/item/5463d72d
http://www.escholarship.org/uc/item/5463d72d
Autor:
Philip D. Connors, Samantha Caldwell, Barbara B. Biesecker, Leslie G. Biesecker, Martha F. Wright, Katie L. Lewis, Gillian W. Hooker, Travis C. Hyams
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
This study investigated how genome sequencing results affect health behaviors, affect, and communication. We report on 29 participants who received a sequence result in the ClinSeq study, a cohort of well-educated, postreproductive volunteers. A mixe