Clinical genome sequencing in patients with suspected rare genetic disease in Peru

Autor: Jeny Bazalar-Montoya, Mario Cornejo-Olivas, Milagros M. Duenas-Roque, Nelson Purizaca-Rosillo, Richard S. Rodriguez, Karina Milla-Neyra, Carlos A. De La Torre-Hernandez, Elison Sarapura-Castro, Carolina I. Galarreta Aima, Gioconda Manassero-Morales, Giulliana Chávez-Pasco, Luis Celis-García, Jorge E. La Serna-Infantes, Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support, Evgenii Chekalin, Erin Thorpe, Ryan J. Taft

Publikováno v: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-10 (2024)

Abstract There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) to underserved individuals with signs or symptoms of rare genetic diseases and limited

Externí odkaz: https://doaj.org/article/53386bc0911340c4b23eb12d080b42fa

Contributors

Autor: Ann G. Bailey, Jeffrey R. Balzer, Victor C. Baum, David S. Beebe, Sue R. Beers, Kumar G. Belani, Bruno Bissonette, Brian Blasiole, Adrian T. Bosenberg, Barbara W. Brandom, Claire M. Brett, James G. Cain, Thomas M. Chalifoux, Franklyn P. Cladis, David E. Cohen, Ira T. Cohen, Joseph P. Cravero, Nicholas M. Dalesio, Andrew Davidson, Jessica Davis, Peter J. Davis, Duncan G. de Souza, Nina Deutsch, Laura K. Diaz, James A. DiNardo, Peter F. Ehrlich, Demetrius Ellis, James J. Fehr, Jeffrey M. Feldman, Kathryn Felmet, Jonathan D. Finder, Sean Flack, Randall P. Flick, Michelle A. Fortier, Geoff Frawley, Samir K. Gadepalli, Jeffrey L. Galinkin, Nancy Glass, Salvatore R. Goodwin, George A. Gregory, Lorelei Grunwaldt, Padma Gulur, Nina A. Guzzetta, Dawit T. Haile, Denise M. Hall-Burton, Gregory B. Hammer, Jennifer L. Hamrick, Justin T. Hamrick, Daniel M. Hayward, Eugenie S. Heitmiller, Andrew Herlich, Robert S. Holzman, Vincent C. Hsieh, Elizabeth A. Hunt, James W. Ibinson, Lori T. Justice, Zeev N. Kain, Evan Kharasch, Rahul Koka, Sabine Kost-Byerly, Elliot J. Krane, Barry D. Kussman, Robert Scott Lang, Helen Victoria Lauro, Jennifer K. Lee, Joseph Losee, Igor Luginbuehl, Mohamed Mahmoud, Brian Martin, Keira P. Mason, William J. Mauermann, Lynne G. Maxwell, Francis X. McGowan, Bruce E. Miller, Constance L. Monitto, Philip G. Morgan, Michael L. Moritz, Etsuro K. Motoyama, Michael E. Nemergut, Julie Niezgoda, Shelley Ohliger, Phillip M.T. Pian, David M. Polaner, George D. Politis, Andrew J. Powell, Paul Reynolds, Karene Ricketts, Richard S. Ro, Mark A. Rockoff, Thomas Romanelli, Nancy Bard Samol, Paul J. Samuels, Joseph A. Scattoloni, Jamie McElrath Schwartz, Deborah A. Schwengel, Victor L. Scott, Donald H. Shaffner, Avinash C. Shukla, Allan F. Simpao, Erica L. Sivak, Matthew D. Sjoblom, Kyle Soltys, Sulpicio G. Soriano, Eric T. Stickles, Jennifer M. Thomas, Stevan P. Tofovic, Kha M. Tran, Premal M. Trivedi, Robert D. Valley, Monica S. Vavilala, Lisa Vecchione, Keith M. Vogt, Jeffrey R. Wahl, Kerri M. Wahl, Ari Y. Weintraub, Timothy P. Welch, Robert K. Williams, Eric P. Wittkugel, Susan Woelfel, Myron Yaster, Koichi Yuki, Steven Zgleszewski, Basil J. Zitelli, Aaron L. Zuckerberg

Publikováno v: Smith's Anesthesia for Infants and Children ISBN: 9780323341257

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::554c3e64e97f26da6ccd1a724d24ea5f
https://doi.org/10.1016/b978-0-323-34125-7.00068-1

High-precision real-space simulation of electrostatically confined few-electron states

Autor: Christopher R. Anderson, Mark F. Gyure, Sam Quinn, Andrew Pan, Richard S. Ross, Andrey A. Kiselev

Publikováno v: AIP Advances, Vol 12, Iss 6, Pp 065123-065123-10 (2022)

In this paper, we present a computational procedure that utilizes real-space grids to obtain high precision approximations of electrostatically confined few-electron states such as those that arise in gated semiconductor quantum dots. We use the full

Externí odkaz: https://doaj.org/article/6510f92cc4184a7db1797ab40265c7f3

The Identification of Multidrug-Resistant Microorganisms including Bergeyella zoohelcum Acquired from the Skin/Prosthetic Interface of Amputees and Their Susceptibility to Medihoney™ and Garlic Extract (Allicin)

Autor: Ruby Harsent, Joshua Macleod, Richard S. Rowlands, Paul M. Smith, Neil Rushmere, James Blaxland

Publikováno v: Microorganisms, Vol 10, Iss 2, p 299 (2022)

Users of prosthetic devices face the accumulation of potentially drug-resistant pathogenic bacteria on the skin/prosthesis interface. In this study, we took surface swabs of the skin/prosthesis interface of eleven disabled athletes to identify microo

Externí odkaz: https://doaj.org/article/63d6c6778f064dd6a9a77dcd3bad0ca7