Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Donald J. Corsmeier, Michael J. Evenson, Katinka Vigh-Conrad, Vincent Magrini, Beth A. Drolet, Nicole R. Bender, Robert K. Semple, Matthew Avenarius, Andrea L. Zaenglein, Jeffrey N. Dudley, Meagan Corliss, Jonathan W. Heusel, Ilona J. Frieden, Jennifer J. Johnston, Carrie C. Coughlin, Catherine E. Cottrell, Heather Ciliberto, Laura L. Tosi, Leslie G. Biesecker, Marjorie J. Lindhurst, Megha M. Tollefson, Olivia M. T. Davies, Michael T. Zimmermann
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 10
Cottrell, C E, Bender, N R, Zimmermann, M, Heusel, J, Corliss, M, Evenson, M, Magrini, V, Corsmeier, D J, Avenarius, M, Dudley, J N, Johnston, J, Lindhurst, M J, Vigh-Conrad, K, Davies, O M T, Coughlin, C C, Frieden, I J, Tollefson, M, Zaenglein, A L, Ciliberto, H, Tosi, L L, Semple, R K, Biesecker, L G & Drolet, B A 2021, ' Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01211-z
Genetics in Medicine
Cottrell, C E, Bender, N R, Zimmermann, M, Heusel, J, Corliss, M, Evenson, M, Magrini, V, Corsmeier, D J, Avenarius, M, Dudley, J N, Johnston, J, Lindhurst, M J, Vigh-Conrad, K, Davies, O M T, Coughlin, C C, Frieden, I J, Tollefson, M, Zaenglein, A L, Ciliberto, H, Tosi, L L, Semple, R K, Biesecker, L G & Drolet, B A 2021, ' Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01211-z
Genetics in Medicine
Author(s): Cottrell, Catherine E; Bender, Nicole R; Zimmermann, Michael T; Heusel, Jonathan W; Corliss, Meagan; Evenson, Michael J; Magrini, Vincent; Corsmeier, Donald J; Avenarius, Matthew; Dudley, Jeffrey N; Johnston, Jennifer J; Lindhurst, Marjori
Autor:
Heidi L. Rehm, Robert L. Nussbaum, Leslie G. Biesecker, Alexander E. Katz, Marc S. Williams, Benjamin D. Solomon
Publikováno v:
Am J Hum Genet
Secondary genomic findings are increasingly being returned to individuals as opportunistic screening results. A secondary finding offers the chance to identify and mitigate disease that may otherwise be unrecognized in an individual. As a form of scr
Autor:
Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
Genome Medicine
Genome Medicine
Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes
Autor:
Julie C. Sapp, Leslie G. Biesecker, Anna Buser, Kim M. Keppler-Noreuil, Jasmine Burton-Akright
Publikováno v:
Am J Med Genet C Semin Med Genet
Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p.E17K variant in AKT1. As well, a number of overlapping overgrowth di
Autor:
Kaylee Park, Georg Seelig, Robert J. Hopkin, Steven Lisgo, Joseph G. Gleeson, Yuri A. Zarate, Charles E. Schwartz, Stephen R. Braddock, Katherine Wusik, Zachary Thomson, Deborah A. Nickerson, Charles M. Roco, Susan Sell, Jordan Zeiger, Chi V. Cheng, Matthew Hirano, Julie R. Jones, Roger L. Ladda, Gisele E. Ishak, Amy Goldstein, David B. Everman, Dan Doherty, Sarah Collins, William B. Dobyns, Lynne M. Overmann, Ian A. Glass, Alexander B. Rosenberg, Megan T. Cho, Kathleen A. Leppig, Kimberly A. Aldinger, Brian H.Y. Chung, Andrew E. Timms, Kathleen J. Millen, Fatima Abidi, Michael J. Bamshad, Cynthia J. Curry, Fowzan S. Alkuraya, A. James Barkovich, James T. Bennett, Parthiv Haldipur, Leslie G. Biesecker, Ian D. Krantz, Ghayda M. Mirzaa, Dianne Gerrelli, Barbara McGillivray, Sara S. Cathey
Publikováno v:
The American Journal of Human Genetics. 105:606-615
Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-e
Autor:
Philippe M. Campeau, Katherine Agre, Vernon R. Sutton, Kirsty McWalter, Bertrand Isidor, Øystein L. Holla, Anna Lehman, Megha Desai, Jonathan Berg, Stéphane Bézieau, Rolph Pfundt, Jennifer Tarpinian, Jennifer B. Humberson, Holly A.F. Stessman, Madeleine R. Geisheker, Emma Bedoukian, Shalini N. Jhangiani, Marine I. Murphree, Annapurna Poduri, Anne-Sophie Denommé-Pichon, Christian Gilissen, Yaping Yang, Eliane Beauregard-Lacroix, Claude Férec, Francesca Filippini, Anne Guimier, Daryl A. Scott, Stephen Sanders, Julie C. Sapp, Ralitza H. Gavrilova, Slavé Petrovski, Ann Nordgren, Sylvia Redon, Ernie M.H.F. Bongers, Shelagh Joss, Jill A. Rosenfeld, Wallid Deb, Ingrid M. Wentzensen, Usha Kini, Vandana Shashi, Mindy H. Li, Stanislas Lyonnet, Thomas Garcia, Øyvind L. Busk, Christoffer Nellåker, Amber Begtrup, Brigitte Gilbert-Dussardier, Thomas Besnard, Francois V. Bolduc, Patrick R. Blackburn, Justine Rousseau, Frédéric Bilan, Eric W. Klee, Christopher T. Gordon, Pavel N. Pichurin, Peggy Kulch, Kevin P. Lally, Laurie Robak, Arnaud Picard, Kristian Tveten, Meredith Park, Sébastien Küry, Jaya Punetha, Moira Blyth, Asbjørg Stray-Pedersen, Jacqueline Harris, Erin L. Heinzen, Nicholas Stong, Cara M. Skraban, Julie S. Cohen, Aida Telegrafi, Xenia Latypova, Zeynep Coban Akdemir, Jacob Zyskind, Caitlin Troyer, Xiang-Jiao Yang, Tuula Rinne, Leslie G. Biesecker, Jennifer E. Posey, Kyle Retterer, Jeanne Amiel, Rui Xiao, Magnus Nordenskjöld, Tammie Dewan, Jennifer A. Sullivan, Charlotte von der Lippe, Evan E. Eichler, Anna Lindstrand, Dominique Bonneau, Yuri A. Zarate, Elaine H. Zackai, Fayth M. Kalb, Daniel H. Lowenstein, Shiri Avni, Benjamin Cogné, Jennifer J. Johnston, Kerri H. Whitlock, Catherine Shain, Séverine Audebert-Bellanger, Malin Kvarnung, Oana Caluseriu, David Goldstein, Annick Toutain, Andres Hernandez-Garcia, Brina Daniels, Sophie Ehresmann, James R. Lupski, Julie McGaughran, Ashley H Ebanks, Kévin Uguen, Marine Legendre, Sylvie Odent, Richard Redon, Erica H. Gerkes, Xiaofei Song
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 2019, 104 (3), pp.530-541. ⟨10.1016/j.ajhg.2019.01.010⟩
American Journal of Human Genetics, 104, 3, pp. 530-541
American Journal of Human Genetics, 104, 530-541
American Journal of Human Genetics, 104(3), 530-541. CELL PRESS
American journal of human genetics, vol 104, iss 3
Contains fulltext : 202928.pdf (Publisher’s version ) (Open Access) Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone
Publikováno v:
Human Mutation. 39:1525-1530
The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendation
Autor:
Tina Pesaran, Heidi L. Rehm, Marina T. DiStefano, Ahmad N. Abou Tayoun, Leslie G. Biesecker, Steven M. Harrison, Andrea M. Oza
Publikováno v:
Human Mutation. 39:1517-1524
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. Howev
Autor:
Wen-Hann Tan, Małgorzata J.M. Nowaczyk, Joseph T. Shieh, Anne Slavotinek, John M. Graham, Lynne M. Bird, David D. Weaver, Laurie H. Seaver, Anne Amemiya, Ghayda Mirzaa, Beth A. Kozel, Jennifer M. Kalish, John C. Carey, Anita E. Beck, Margaret P. Adam, Bryan D. Hall, Philip F Giampietro, Kim M. Keppler-Noreuil, David A. Stevenson, Karen W. Gripp, Robin D. Clark, Mary Beth Dinulos, William B. Dobyns, Pedro A. Sanchez-Lara, Roberta A Pagon, Andrew K. Sobering, Michael J. Bamshad, Fowzan S. Alkuraya, Tiong Yang Tan, Brian H.Y. Chung, Alan F. Rope, Elaine H. Zackai, Marc S. Williams, John J. Mulvihill, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Yuri A. Zarate, Timothy C. Cox, Chad R. Haldeman-Englert, Anne C. Tsai, Ian A. Glass, Cynthia J. Curry, Kenjiro Kosaki, A. Micheil Innes, Katta M. Girisha, Cathy A. Stevens
Publikováno v:
Am J Hum Genet
American journal of human genetics, vol 108, iss 1
American journal of human genetics, vol 108, iss 1
The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of M
Autor:
Xuefei Ma, Nathaniel Laughner, Marjorie J. Lindhurst, Wenling Li, Leslie G. Biesecker, Jasmine Shwetar, Yoh-suke Mukouyama, Hannah C. Kondolf
Publikováno v:
Hum Mol Genet
Proteus syndrome is a progressive overgrowth disorder with vascular malformations caused by mosaic expression of the AKT1 c.49G > A, p.(E17K) activating variant which was predicted to cause lethality if expressed ubiquitously. To test that hypothesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e70edb700ad1c1a16cc0405a92ee24a
https://europepmc.org/articles/PMC7871364/
https://europepmc.org/articles/PMC7871364/