Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

Por Dines, Jennifer N., Shirts, Brian H., Slavin, Thomas P., Walsh, Tom, King, Mary-Claire, Fowler, Douglas M., Pritchard, Colin C.
Publicado no Genet Med (2020)

Expanding Clinical Phenotype in CACNA1C Related Disorders: From Neonatal Onset Severe Epileptic Encephalopathy to Late-onset Epilepsy

Por Bozarth, Xiuhua, Dines, Jennifer N., Cong, Qian, Mirzaa, Ghayda M., Foss, Kimberly, Merritt, J. Lawrence, Thies, Jenny, Mefford, Heather C., Novotny, Edward
Publicado no Am J Med Genet A (2018)

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Por Gelman, Hannah, Dines, Jennifer N., Berg, Jonathan, Berger, Alice H., Brnich, Sarah, Hisama, Fuki M., James, Richard G., Rubin, Alan F., Shendure, Jay, Shirts, Brian, Fowler, Douglas M., Starita, Lea M.
Publicado no Genome Med (2019)

Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing

Por Matreyek, Kenneth A., Starita, Lea M., Stephany, Jason J., Martin, Beth, Chiasson, Melissa A., Gray, Vanessa E., Kircher, Martin, Khechaduri, Arineh, Dines, Jennifer N., Hause, Ronald J., Bhatia, Smita, Evans, William E., Relling, Mary V., Yang, Wenjian, Shendure, Jay, Fowler, Douglas M.
Publicado no Nat Genet (2018)

Using Make for Reproducible and Parallel Neuroimaging Workflow and Quality-Assurance

Por Askren, Mary K., McAllister-Day, Trevor K., Koh, Natalie, Mestre, Zoé, Dines, Jennifer N., Korman, Benjamin A., Melhorn, Susan J., Peterson, Daniel J., Peverill, Matthew, Qin, Xiaoyan, Rane, Swati D., Reilly, Melissa A., Reiter, Maya A., Sambrook, Kelly A., Woelfer, Karl A., Grabowski, Thomas J., Madhyastha, Tara M.
Publicado no Front Neuroinform (2016)

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

Por Freed, Amanda S., Candadai, Sarah V. Clowes, Sikes, Megan C., Thies, Jenny, Byers, Heather M., Dines, Jennifer N., Ndugga-Kabuye, Mesaki Kenneth, Smith, Mallory B., Fogus, Katie, Mefford, Heather C., Lam, Christina, Adam, Margaret P., Sun, Angela, McGuire, John K., DiGeronimo, Robert, Dipple, Katrina M., Deutsch, Gail H., Billimoria, Zeenia C., Bennett, James T.
Publicado no J Pediatr (2020)

A large-scale database of T-cell receptor beta (TCRβ) sequences and binding associations from natural and synthetic exposure to SARS-CoV-2

Por Nolan, Sean, Vignali, Marissa, Klinger, Mark, Dines, Jennifer N., Kaplan, Ian M., Svejnoha, Emily, Craft, Tracy, Boland, Katie, Pesesky, Mitch, Gittelman, Rachel M., Snyder, Thomas M., Gooley, Christopher J., Semprini, Simona, Cerchione, Claudio, Mazza, Massimiliano, Delmonte, Ottavia M., Dobbs, Kerry, Carreño-Tarragona, Gonzalo, Barrio, Santiago, Sambri, Vittorio, Martinelli, Giovanni, Goldman, Jason D., Heath, James R., Notarangelo, Luigi D., Carlson, Jonathan M., Martinez-Lopez, Joaquin, Robins, Harlan S.
Publicado no Res Sq (2020)

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Por Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Publicado no Genet Med (2018)

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Por Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Publicado no Genet Med (2018)

Magnitude and Dynamics of the T-Cell Response to SARS-CoV-2 Infection at Both Individual and Population Levels

Por Snyder, Thomas M., Gittelman, Rachel M., Klinger, Mark, May, Damon H., Osborne, Edward J., Taniguchi, Ruth, Zahid, H. Jabran, Kaplan, Ian M., Dines, Jennifer N., Noakes, Matthew T., Pandya, Ravi, Chen, Xiaoyu, Elasady, Summer, Svejnoha, Emily, Ebert, Peter, Pesesky, Mitchell W., De Almeida, Patricia, O’Donnell, Hope, DeGottardi, Quinn, Keitany, Gladys, Lu, Jennifer, Vong, Allen, Elyanow, Rebecca, Fields, Paul, Greissl, Julia, Baldo, Lance, Semprini, Simona, Cerchione, Claudio, Nicolini, Fabio, Mazza, Massimiliano, Delmonte, Ottavia M., Dobbs, Kerry, Laguna-Goya, Rocio, Carreño-Tarragona, Gonzalo, Barrio, Santiago, Imberti, Luisa, Sottini, Alessandra, Quiros-Roldan, Eugenia, Rossi, Camillo, Biondi, Andrea, Bettini, Laura Rachele, D’Angio, Mariella, Bonfanti, Paolo, Tompkins, Miranda F., Alba, Camille, Dalgard, Clifton, Sambri, Vittorio, Martinelli, Giovanni, Goldman, Jason D., Heath, James R., Su, Helen C., Notarangelo, Luigi D., Paz-Artal, Estela, Martinez-Lopez, Joaquin, Carlson, Jonathan M., Robins, Harlan S.
Publicado no medRxiv (2020)

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Por Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł
Publicado no Am J Hum Genet (2019)