Zobrazeno 61 - 70
of 449
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Leslie G. Biesecker
Publikováno v:
The American Journal of Human Genetics. 106:285-287
Autor:
Katie L. Lewis, Alexis R Heidlebaugh, Leslie G. Biesecker, David Ng, Ilana M. Miller, Sandra Epps, William M. P. Klein, Paul K. J. Han, Kristen P Fishler, Barbara B. Biesecker, Charlotte L Hepler
Publikováno v:
Genet Med
PURPOSE: Racial minority populations are underrepresented in genomics research. This study enrolled African-descended individuals in a sequencing study and reported their characteristics. METHODS: We purposively recruited 467 individuals self-identif
Autor:
Kim M. Keppler-Noreuil, Lauren R Brinster, Cecilia Rivas, Neil J. Sebire, Marjorie J. Lindhurst, Gene Elliot, Hannah C. Kondolf, Jasmine Shwetar, Miranda R. Yourick, Pamela L. Schwartzberg, Henoke Shiferaw, Leslie G. Biesecker, Lisa Garrett, Julio Gomez-Rodriguez, Stephen M. Hewitt
Publikováno v:
Hum Mol Genet
Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p.(E17K) in AKT1. The presentation in affected individuals is variable, with a diversity of tissues demonstrating abnormalities. Common man
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
Autor:
Keiko Hikino, Barbara W. Brandom, Sephalie Patel, Ronald J. Gordon, Rebecca Pulk, Leslie G. Biesecker, Katrin Sangkuhl, Robert T. Dirksen, Stephen G. Gonsalves, Teresa Vo, S. Mark Poler, Dan M. Roden, Teri E. Klein, Kelly E. Caudle, Maria L. Alvarellos
Publikováno v:
Clinical Pharmacology & Therapeutics. 105:1338-1344
The identification in a patient of 1 of the 50 variants in the RYR1 or CACNA1S genes reviewed here should lead to a presumption of malignant hyperthermia susceptibility (MHS). MHS can lead to life-threatening reactions to potent volatile anesthetic a
Autor:
Sun A Kim, Theo Heller, Leslie G. Biesecker, Sungyoung Auh, Varun Takyar, Rachna Patel, Julie C. Sapp, Kim M. Keppler-Noreuil, Alexander Ling, Divya Khattar
Publikováno v:
Am J Med Genet A
Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers affecting multiple viscera. We sought to delineate the extent of hepatoportal manifestations i
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:
Marta Biderman Waberski, Laura A. Baker, Kim M. Keppler-Noreuil, Marjorie J. Lindhurst, Julie C. Sapp, Karen W. Gripp, Leslie G. Biesecker, Denise M. Adams
Publikováno v:
Genetics in Medicine. 20:1077-1081
We set out to facilitate the molecular diagnosis of patients with PIK3CA-related overgrowth spectrum (PROS), a heterogeneous somatic disorder characterized by variable presentations of segmental overgrowth, vascular malformations, skin lesions, and n
Autor:
Barbara A. Koenig, Katie Bergstrom, Ellen Wright Clayton, Yaping Yang, Carolyn Sue Richards, Levi A. Garraway, Sawona Biswas, Kevin M. Bowling, Kathryn M. Porter, Susan M. Hiatt, Tia L. Kauffman, Natasha T. Strande, Holly K. Tabor, Susan M. Wolf, Laura M. Amendola, Katrina A.B. Goddard, Gregory M. Cooper, Gail P. Jarvik, Jonathan S. Berg, Laura K. Conlin, Matthew C. Dulik, Robert C. Green, Danielle R. Azzariti, Wendy K. Chung, Leslie G. Biesecker, Seema M. Jamal, Benjamin S. Wilfond, Arezou A. Ghazani, Heidi L. Rehm, Katie L. Lewis
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Clinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of auto