Výsledky vyhledávání - Hiatt, Susan M.

Bimolecular fluorescence complementation (BiFC) analysis of protein interactions in Caenorhabditis elegans Autor Hiatt, Susan M., Shyu, Y. John, Duren, Holli M., Hu, Chang-Deng

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Caenorhabditis elegans FOS-1 and JUN-1 Regulate plc-1 Expression in the Spermatheca to Control Ovulation Autor Hiatt, Susan M., Duren, Holli M., Shyu, Y. John, Ellis, Ronald E., Hisamoto, Naoki, Matsumoto, Kunihiro, Kariya, Ken-ichi, Kerppola, Tom K., Hu, Chang-Deng

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A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway Autor Popov, Ivan K., Hiatt, Susan M., Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M., Korf, Bruce R., Chang, Chenbei

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Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders Autor Hiatt, Susan M., Lawlor, James M.J., Handley, Lori H., Ramaker, Ryne C., Rogers, Brianne B., Partridge, E. Christopher, Boston, Lori Beth, Williams, Melissa, Plott, Christopher B., Jenkins, Jerry, Gray, David E., Holt, James M., Bowling, Kevin M., Bebin, E. Martina, Grimwood, Jane, Schmutz, Jeremy, Cooper, Gregory M.

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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy Autor Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie

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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder Autor Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.

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Genomic sequencing identifies secondary findings in a cohort of parent study participants Autor Thompson, Michelle L., Finnila, Candice R., Bowling, Kevin M., Brothers, Kyle B., Neu, Matthew B., Amaral, Michelle D., Hiatt, Susan M., East, Kelly M., Gray, David E., Lawlor, James M.J., Kelley, Whitley V., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Levy, Shawn E., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.

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Genomic diagnosis for children with intellectual disability and/or developmental delay Autor Bowling, Kevin M., Thompson, Michelle L., Amaral, Michelle D., Finnila, Candice R., Hiatt, Susan M., Engel, Krysta L., Cochran, J. Nicholas, Brothers, Kyle B., East, Kelly M., Gray, David E., Kelley, Whitley V., Lamb, Neil E., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Whittle, Jana S., Weaver, Benjamin T., Nesmith, Amy S., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.

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Systematic reanalysis of genomic data improves quality of variant interpretation Autor Hiatt, Susan M., Amaral, Michelle D., Bowling, Kevin M., Finnila, Candice R., Thompson, Michelle L., Gray, David E., Lawlor, James M.J., Cochran, J. Nicholas, Bebin, E. Martina, Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Lamb, Neil E., Levy, Shawn E., Lose, Edward J., Neu, Matthew B., Rich, Carla A., Simmons, Shirley, Myers, Richard M., Barsh, Gregory S., Cooper, Gregory M.

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability and autism spectrum disorder Autor Scott, Tiana M., Guo, Hui, Eichler, Evan E., Rosenfeld, Jill A., Pang, Kaifang, Liu, Zhandong, Lalani, Seema, Weimin, Bi, Yang, Yaping, Bacino, Carlos A., Streff, Haley, Lewis, Andrea M., Koenig, Mary K., Thiffault, Isabelle, Bellomo, Allison, Everman, David B., Jones, Julie R., Stevenson, Roger E., Bernier, Raphael, Gilissen, Christian, Pfundt, Rolph, Hiatt, Susan M., Cooper, Gregory M., Holder, Jimmy L., Scott, Daryl A.

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RefSeq: an update on mammalian reference sequences Autor Pruitt, Kim D., Brown, Garth R., Hiatt, Susan M., Thibaud-Nissen, Françoise, Astashyn, Alexander, Ermolaeva, Olga, Farrell, Catherine M., Hart, Jennifer, Landrum, Melissa J., McGarvey, Kelly M., Murphy, Michael R., O’Leary, Nuala A., Pujar, Shashikant, Rajput, Bhanu, Rangwala, Sanjida H., Riddick, Lillian D., Shkeda, Andrei, Sun, Hanzhen, Tamez, Pamela, Tully, Raymond E., Wallin, Craig, Webb, David, Weber, Janet, Wu, Wendy, DiCuccio, Michael, Kitts, Paul, Maglott, Donna R., Murphy, Terence D., Ostell, James M.

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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay Autor Hiatt, Susan M., Neu, Matthew B., Ramaker, Ryne C., Hardigan, Andrew A., Prokop, Jeremy W., Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K. C., Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D., Suchy, Sharon F., Willaert, Rebecca, Wentzensen, Ingrid M., Wheeler, Patricia G., Brick, Lauren, Kozenko, Mariya, Hurst, Anna C. E., Wheless, James W., Lacassie, Yves, Myers, Richard M., Barsh, Gregory S., Sedlacek, Zdenek, Cooper, Gregory M.

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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism Autor Harms, Frederike Leonie, Girisha, Katta M., Hardigan, Andrew A., Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M., Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M., Hiatt, Susan M., Lose, Edward J., Primiano, Michelle, Chung, Wendy K., Juusola, Jane, Akdemir, Zeynep C., Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K., El-Hattab, Ayman W., Saleh, Mohammed A.M., Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R., Myers, Richard M., Cooper, Gregory M., Kutsche, Kerstin

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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder Autor Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.

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Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience Autor Porter, Kathryn M., Kauffman, Tia L., Koenig, Barbara A., Lewis, Katie L., Rehm, Heidi L., Richards, Carolyn Sue, Strande, Natasha T., Tabor, Holly K., Wolf, Susan M., Yang, Yaping, Amendola, Laura M., Azzariti, Danielle R., Berg, Jonathan S., Bergstrom, Katie, Biesecker, Leslie G., Biswas, Sawona, Bowling, Kevin M., Chung, Wendy K., Clayton, Ellen W., Conlin, Laura K., Cooper, Gregory M., Dulik, Matthew C., Garraway, Levi A., Ghazani, Arezou A., Green, Robert C., Hiatt, Susan M., Jamal, Seema M., Jarvik, Gail P., Goddard, Katrina A. B., Wilfond, Benjamin S.

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Current status and new features of the Consensus Coding Sequence database Autor Farrell, Catherine M., O’Leary, Nuala A., Harte, Rachel A., Loveland, Jane E., Wilming, Laurens G., Wallin, Craig, Diekhans, Mark, Barrell, Daniel, Searle, Stephen M. J., Aken, Bronwen, Hiatt, Susan M., Frankish, Adam, Suner, Marie-Marthe, Rajput, Bhanu, Steward, Charles A., Brown, Garth R., Bennett, Ruth, Murphy, Michael, Wu, Wendy, Kay, Mike P., Hart, Jennifer, Rajan, Jeena, Weber, Janet, Snow, Catherine, Riddick, Lillian D., Hunt, Toby, Webb, David, Thomas, Mark, Tamez, Pamela, Rangwala, Sanjida H., McGarvey, Kelly M., Pujar, Shashikant, Shkeda, Andrei, Mudge, Jonathan M., Gonzalez, Jose M., Gilbert, James G. R., Trevanion, Stephen J., Baertsch, Robert, Harrow, Jennifer L., Hubbard, Tim, Ostell, James M., Haussler, David, Pruitt, Kim D.

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Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Autor Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W, Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R., Pagnamenta, Alistair, Wenninger-Weinzier, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C, Terrone, Gaetano, Vitiello, Giuseppina, Giudice, Ennio Del, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A., Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A., Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M., Cooper, Gregory M., Aldinger, Kimberly A, Dobyns, William B, Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J., Keays, David Anthony

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Genome sequencing as a first-line diagnostic test for hospitalized infants Autor Bowling, Kevin M., Thompson, Michelle L., Finnila, Candice R., Hiatt, Susan M., Latner, Donald R., Amaral, Michelle D., Lawlor, James M.J., East, Kelly M., Cochran, Meagan E., Greve, Veronica, Kelley, Whitley V., Gray, David E., Felker, Stephanie A., Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E., Hendon, Laura G., Janani, Hillary M., Johnston, Marla, Merin, Lee Ann, Deans, Sarah L., Tuura, Carly, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C.E., Kandasamy, Jegen, Carlo, Wally, Brothers, Kyle B., Kirmse, Brian M., Savich, Renate, Superneau, Duane, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M.

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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size Autor Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, Harlan De Crescenzo, Angelo, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan K C, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, Jamra, Rami

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature Autor Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane

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