Predicting mutations deleterious to function in beta-lactamase TEM1 using MM-GBSA

por Negron, Christopher, Pearlman, David A., del Angel, Guillermo
Publicado 2019

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

por del Angel, Guillermo, Reynders, John, Negron, Christopher, Steinbrecher, Thomas, Mornet, Etienne
Publicado 2020

Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency

por del Angel, Guillermo, Hutchinson, Andrew T., Jain, Nina K., Forbes, Chris D., Reynders, John
Publicado 2019

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification

por Martín Merinero, Hector, Zhang, Yuzhou, Arjona, Emilia, del Angel, Guillermo, Goodfellow, Renee, Gomez-Rubio, Elena, Ji, Rui-Ru, Michelena, Malkoa, Smith, Richard J. H., Rodríguez de Córdoba, Santiago
Publicado 2021

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

por Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay., Thomas
Publicado 2022