Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
Dorschner, Michael O., Amendola, Laura M., Turner, Emily H., Robertson, Peggy D., Shirts, Brian H., Gallego, Carlos J., Bennett, Robin L., Jones, Kelly L., Tokita, Mari J., Bennett, James T., Kim, Jerry H., Rosenthal, Elisabeth A., Kim, Daniel S., Tabor, Holly K., Bamshad, Michael J., Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom, Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Nickerson, Deborah A., Jarvik, Gail P.
Published in American journal of human genetics (03.10.2013)
Published in American journal of human genetics (03.10.2013)
Get full text
Journal Article
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Cao, Ye, Tokita, Mari J, Chen, Edward S, Ghosh, Rajarshi, Chen, Tiansheng, Feng, Yanming, Gorman, Elizabeth, Gibellini, Federica, Ward, Patricia A, Braxton, Alicia, Wang, Xia, Meng, Linyan, Xiao, Rui, Bi, Weimin, Xia, Fan, Eng, Christine M, Yang, Yaping, Gambin, Tomasz, Shaw, Chad, Liu, Pengfei, Stankiewicz, Pawel
Published in Genome medicine (26.07.2019)
Published in Genome medicine (26.07.2019)
Get full text
Journal Article
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
Get full text
Journal Article
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Meng, Linyan, Pammi, Mohan, Saronwala, Anirudh, Magoulas, Pilar, Ghazi, Andrew Ray, Vetrini, Francesco, Zhang, Jing, He, Weimin, Dharmadhikari, Avinash V, Qu, Chunjing, Ward, Patricia, Braxton, Alicia, Narayanan, Swetha, Ge, Xiaoyan, Tokita, Mari J, Santiago-Sim, Teresa, Dai, Hongzheng, Chiang, Theodore, Smith, Hadley, Azamian, Mahshid S, Robak, Laurie, Bostwick, Bret L, Schaaf, Christian P, Potocki, Lorraine, Scaglia, Fernando, Bacino, Carlos A, Hanchard, Neil A, Wangler, Michael F, Scott, Daryl, Brown, Chester, Hu, Jianhong, Belmont, John W, Burrage, Lindsay C, Graham, Brett H, Sutton, Vernon Reid, Craigen, William J, Plon, Sharon E, Lupski, James R, Beaudet, Arthur L, Gibbs, Richard A, Muzny, Donna M, Miller, Marcus J, Wang, Xia, Leduc, Magalie S, Xiao, Rui, Liu, Pengfei, Shaw, Chad, Walkiewicz, Magdalena, Bi, Weimin, Xia, Fan, Lee, Brendan, Eng, Christine M, Yang, Yaping, Lalani, Seema R
Published in JAMA pediatrics (04.12.2017)
Published in JAMA pediatrics (04.12.2017)
Get more information
Journal Article
Postnatal outcomes of prenatally diagnosed 45,X/46,XX
Tokita, Mari J., Sybert, Virginia P.
Published in American journal of medical genetics. Part A (01.05.2016)
Published in American journal of medical genetics. Part A (01.05.2016)
Get full text
Journal Article
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Published in Human mutation (01.03.2019)
Published in Human mutation (01.03.2019)
Get full text
Journal Article
Periostin is a novel therapeutic target that predicts and regulates glioma malignancy
Mikheev, Andrei M, Mikheeva, Svetlana A, Trister, Andrew D, Tokita, Mari J, Emerson, Samuel N, Parada, Carolina A, Born, Donald E, Carnemolla, Barbara, Frankel, Sam, Kim, Deok-Ho, Oxford, Rob G, Kosai, Yoshito, Tozer-Fink, Kathleen R, Manning, Thomas C, Silber, John R, Rostomily, Robert C
Published in Neuro-oncology (Charlottesville, Va.) (01.03.2015)
Published in Neuro-oncology (Charlottesville, Va.) (01.03.2015)
Get full text
Journal Article
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3
Tokita, Mari J, Chow, Penny M, Mirzaa, Ghayda, Dikow, Nicola, Maas, Bianca, Isidor, Bertrand, Le Caignec, Cédric, Penney, Lynette S, Mazzotta, Giovanni, Bernardini, Laura, Filippi, Tiziana, Battaglia, Agatino, Donti, Emilio, Earl, Dawn, Prontera, Paolo
Published in European journal of human genetics : EJHG (01.06.2015)
Published in European journal of human genetics : EJHG (01.06.2015)
Get full text
Journal Article
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wahl, Colleen, Tifft, Cynthia J., Toro, Camilo, Bernstein, Jonathan A., Hale, Caitlin L., Silver, Julia, Hudgins, Louanne, Ananth, Amitha, Hanson-Kahn, Andrea, Shuster, Shirley, Magoulas, Pilar L., Patel, Vipulkumar N., Zhu, Wenmiao, Chen, Stella M., Jiang, Yanjun, Liu, Pengfei, Eng, Christine M., Batkovskyte, Dominyka, di Ronza, Alberto, Sardiello, Marco, Lee, Brendan H., Schaaf, Christian P., Yang, Yaping, Wang, Xia
Published in American journal of human genetics (05.07.2018)
Published in American journal of human genetics (05.07.2018)
Get full text
Journal Article
Biallelic loss of GNAS in a patient with pediatric medulloblastoma
Tokita, Mari J, Nahas, Shareef, Briggs, Benjamin, Malicki, Denise M, Mesirov, Jill P, Reyes, Iris Anne C, Farnaes, Lauge, Levy, Michael L, Kingsmore, Stephen F, Dimmock, David, Crawford, John R, Wechsler-Reya, Robert J
Published in Cold Spring Harbor molecular case studies (01.10.2019)
Published in Cold Spring Harbor molecular case studies (01.10.2019)
Get full text
Journal Article
Swe1Wee1-dependent tyrosine phosphorylation of Hsp90 regulates distinct facets of chaperone function
Mollapour, Mehdi, Tsutsumi, Shinji, Donnelly, Alison C, Beebe, Kristin, Tokita, Mari J, Lee, Min-Jung, Lee, Sunmin, Morra, Giulia, Bourboulia, Dimitra, Scroggins, Bradley T, Colombo, Giorgio, Blagg, Brian S, Panaretou, Barry, Stetler-Stevenson, William G, Trepel, Jane B, Piper, Peter W, Prodromou, Chrisostomos, Pearl, Laurence H, Neckers, Len
Published in Molecular cell (12.02.2010)
Published in Molecular cell (12.02.2010)
Get full text
Journal Article
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Amendola, Laura M, Dorschner, Michael O, Robertson, Peggy D, Salama, Joseph S, Hart, Ragan, Shirts, Brian H, Murray, Mitzi L, Tokita, Mari J, Gallego, Carlos J, Kim, Daniel Seung, Bennett, James T, Crosslin, David R, Ranchalis, Jane, Jones, Kelly L, Rosenthal, Elisabeth A, Jarvik, Ella R, Itsara, Andy, Turner, Emily H, Herman, Daniel S, Schleit, Jennifer, Burt, Amber, Jamal, Seema M, Abrudan, Jenica L, Johnson, Andrew D, Conlin, Laura K, Dulik, Matthew C, Santani, Avni, Metterville, Danielle R, Kelly, Melissa, Foreman, Ann Katherine M, Lee, Kristy, Taylor, Kent D, Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A, Raffel, Leslie J, Gordon, Ora, Machini, Kalotina, Desnick, Robert J, Biesecker, Leslie G, Lubitz, Steven A, Mulchandani, Surabhi, Cooper, Greg M, Joffe, Steven, Richards, C Sue, Yang, Yaoping, Rotter, Jerome I, Rich, Stephen S, O'Donnell, Christopher J, Berg, Jonathan S, Spinner, Nancy B, Evans, James P, Fullerton, Stephanie M, Leppig, Kathleen A, Bennett, Robin L, Bird, Thomas, Sybert, Virginia P, Grady, William M, Tabor, Holly K, Kim, Jerry H, Bamshad, Michael J, Wilfond, Benjamin, Motulsky, Arno G, Scott, C Ronald, Pritchard, Colin C, Walsh, Tom D, Burke, Wylie, Raskind, Wendy H, Byers, Peter, Hisama, Fuki M, Rehm, Heidi, Nickerson, Debbie A, Jarvik, Gail P
Published in Genome research (01.03.2015)
Published in Genome research (01.03.2015)
Get full text
Journal Article
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
Angelozzi, Marco, Karvande, Anirudha, Molin, Arnaud N, Ritter, Alyssa L, Leonard, Jacqueline M M, Savatt, Juliann M, Douglass, Kristen, Myers, Scott M, Grippa, Mina, Tolchin, Dara, Zackai, Elaine, Donoghue, Sarah, Hurst, Anna C E, Descartes, Maria, Smith, Kirstin, Velasco, Danita, Schmanski, Andrew, Crunk, Amy, Tokita, Mari J, de Lange, Iris M, van Gassen, Koen, Robinson, Hannah, Guegan, Katie, Suri, Mohnish, Patel, Chirag, Bournez, Marie, Faivre, Laurence, Tran-Mau-Them, Frédéric, Baker, Janice, Fabie, Noelle, Weaver, K, Shillington, Amelle, Hopkin, Robert J, Barge-Schaapveld, Daniela Q C.M, Ruivenkamp, Claudia AL, Bökenkamp, Regina, Vergano, Samantha, Seco Moro, Maria Noelia, Díaz de Bustamante, Aranzazu, Misra, Vinod K, Kennelly, Kelly, Rogers, Caleb, Friedman, Jennifer, Wigby, Kristen M, Lenberg, Jerica, Graziano, Claudio, Ahrens-Nicklas, Rebecca C, Lefebvre, Veronique
Published in Journal of medical genetics (01.11.2022)
Published in Journal of medical genetics (01.11.2022)
Get full text
Journal Article
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Afawi, Zaid, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Craiu, Dana, De Jonghe, Peter, Guerrero-Lopez, Rosa, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, José, Sterbová, Katalin, Suls, Arvid, Moller, Rikke S., Striano, Pasquale, Weber, Yvonne, Zara, Federico, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
Get full text
Journal Article
Cover Image, Volume 40, Issue 3
Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Published in Human mutation (01.03.2019)
Published in Human mutation (01.03.2019)
Get full text
Journal Article
Swe1 Wee1-Dependent Tyrosine Phosphorylation of Hsp90 Regulates Distinct Facets of Chaperone Function
Mollapour, Mehdi, Tsutsumi, Shinji, Donnelly, Alison C., Beebe, Kristin, Tokita, Mari J., Lee, Min-Jung, Lee, Sunmin, Morra, Giulia, Bourboulia, Dimitra, Scroggins, Bradley T., Colombo, Giorgio, Blagg, Brian S., Panaretou, Barry, Stetler-Stevenson, William G., Trepel, Jane B., Piper, Peter W., Prodromou, Chrisostomos, Pearl, Laurence H., Neckers, Len
Published in Molecular cell (2010)
Published in Molecular cell (2010)
Get full text
Journal Article