Effects on human transcriptome of mutated BRCA1 BRCT domain: A microarray study

por Iofrida, Caterina, Melissari, Erika, Mariotti, Veronica, Guglielmi, Chiara, Guidugli, Lucia, Caligo, Maria Adelaide, Pellegrini, Silvia
Publicado 2012

To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler

por Frederick, Aliya L., Yang, Jennifer H., Schneider, Sarah, Quade, Alexis, Guidugli, Lucia, Wigby, Kristen, Cameron, Melissa
Publicado 2021

Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

por Mu, Wenbo, Li, Bing, Wu, Sitao, Chen, Jefferey, Sain, Divya, Xu, Dong, Black, Mary Helen, Karam, Rachid, Gillespie, Katrina, Farwell Hagman, Kelly D., Guidugli, Lucia, Pronold, Melissa, Elliott, Aaron, Lu, Hsiao-Mei
Publicado 2018

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding

por Mark, Paul R., Murray, Stephen A., Yang, Tao, Eby, Alexandra, Lai, Angela, Lu, Di, Zieba, Jacob, Rajasekaran, Surender, VanSickle, Elizabeth A., Rossetti, Linda Z., Guidugli, Lucia, Watkins, Kelly, Wright, Meredith S., Bupp, Caleb P., Prokop, Jeremy W.
Publicado 2022

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

por De La Vega, Francisco M., Chowdhury, Shimul, Moore, Barry, Frise, Erwin, McCarthy, Jeanette, Hernandez, Edgar Javier, Wong, Terence, James, Kiely, Guidugli, Lucia, Agrawal, Pankaj B., Genetti, Casie A., Brownstein, Catherine A., Beggs, Alan H., Löscher, Britt-Sabina, Franke, Andre, Boone, Braden, Levy, Shawn E., Õunap, Katrin, Pajusalu, Sander, Huentelman, Matt, Ramsey, Keri, Naymik, Marcus, Narayanan, Vinodh, Veeraraghavan, Narayanan, Billings, Paul, Reese, Martin G., Yandell, Mark, Kingsmore, Stephen F.
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

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

por Owen, Mallory J., Lefebvre, Sebastien, Hansen, Christian, Kunard, Chris M., Dimmock, David P., Smith, Laurie D., Scharer, Gunter, Mardach, Rebecca, Willis, Mary J., Feigenbaum, Annette, Niemi, Anna-Kaisa, Ding, Yan, Van Der Kraan, Luca, Ellsworth, Katarzyna, Guidugli, Lucia, Lajoie, Bryan R., McPhail, Timothy K., Mehtalia, Shyamal S., Chau, Kevin K., Kwon, Yong H., Zhu, Zhanyang, Batalov, Sergey, Chowdhury, Shimul, Rego, Seema, Perry, James, Speziale, Mark, Nespeca, Mark, Wright, Meredith S., Reese, Martin G., De La Vega, Francisco M., Azure, Joe, Frise, Erwin, Rigby, Charlene Son, White, Sandy, Hobbs, Charlotte A., Gilmer, Sheldon, Knight, Gail, Oriol, Albert, Lenberg, Jerica, Nahas, Shareef A., Perofsky, Kate, Kim, Kyu, Carroll, Jeanne, Coufal, Nicole G., Sanford, Erica, Wigby, Kristen, Weir, Jacqueline, Thomson, Vicki S., Fraser, Louise, Lazare, Seka S., Shin, Yoon H., Grunenwald, Haiying, Lee, Richard, Jones, David, Tran, Duke, Gross, Andrew, Daigle, Patrick, Case, Anne, Lue, Marisa, Richardson, James A., Reynders, John, Defay, Thomas, Hall, Kevin P., Veeraraghavan, Narayanan, Kingsmore, Stephen F.
Publicado 2022