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

द्वारा Dines, Jennifer N., Shirts, Brian H., Slavin, Thomas P., Walsh, Tom, King, Mary-Claire, Fowler, Douglas M., Pritchard, Colin C.
में प्रकाशित Genet Med (2020)

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

द्वारा Bozarth, Xiuhua, Dines, Jennifer N., Cong, Qian, Mirzaa, Ghayda M., Foss, Kimberly, Merritt, J. Lawrence, Thies, Jenny, Mefford, Heather C., Novotny, Edward
में प्रकाशित Am J Med Genet A (2018)

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

द्वारा 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.
में प्रकाशित Genome Med (2019)

Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing

द्वारा 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.
में प्रकाशित Nat Genet (2018)

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

द्वारा 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.
में प्रकाशित Front Neuroinform (2016)

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

द्वारा 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.
में प्रकाशित 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

द्वारा 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.
में प्रकाशित Res Sq (2020)

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

द्वारा 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.
में प्रकाशित Genet Med (2018)

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

द्वारा 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.
में प्रकाशित Genet Med (2018)

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

द्वारा 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.
में प्रकाशित medRxiv (2020)

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

द्वारा 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
में प्रकाशित Am J Hum Genet (2019)