Microphysiologic Human Tissue Constructs Reproduce Autologous Age-Specific BCG and HBV Primary Immunization in vitro

by Guzman Sanchez-Schmitz, Guzman Sanchez-Schmitz, Guzman Sanchez-Schmitz, Chad R. Stevens, Ian A. Bettencourt, Peter J. Flynn, Klaus Schmitz-Abe, Klaus Schmitz-Abe, Klaus Schmitz-Abe, Klaus Schmitz-Abe, Gil Metser, David Hamm, Kristoffer J. Jensen, Kristoffer J. Jensen, Kristoffer J. Jensen, Christine Benn, Christine Benn, Ofer Levy, Ofer Levy, Ofer Levy, Ofer Levy
Published 2018-11-01

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.

by Amy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, Samantha M Rosen, Eric Huntzinger, Diane Gleeson, Antonella Galli, Edward Ryder, Siqi Cao, Quinn Murphy, Shideh Kazerounian, Sarah U Morton, Klaus Schmitz-Abe, Vadim N Gladyshev, Pierre-Emmanuel Gleizes, Bertrand Séraphin, Pankaj B Agrawal
Published 2019-02-01

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.

by Qifei Li, Michal Dibus, Alicia Casey, Christina S K Yee, Sara O Vargas, Shiyu Luo, Samantha M Rosen, Jill A Madden, Casie A Genetti, Jan Brabek, Catherine A Brownstein, Shideh Kazerounian, Benjamin A Raby, Klaus Schmitz-Abe, John C Kennedy, Martha P Fishman, Mary P Mullen, Joan M Taylor, Daniel Rosel, Pankaj B Agrawal
Published 2021-07-01

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

by Jignesh R. Parikh, Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz-Abe, Morgan Danowski, Andrew Quitadomo, Jill A. Madden, Calum Yacoubian, Richard Gain, Tessa Williams, Mary Meskell, Andrew Brown, Alison Frith, Shira Rockowitz, Piotr Sliz, Pankaj B. Agrawal, Thomas Defay, Paul McDonagh, John Reynders, Sebastien Lefebvre, Alan H. Beggs
Published 2021-07-01