Direct Binding of GTP Cyclohydrolase and Tyrosine Hydroxylase: REGULATORY INTERACTIONS BETWEEN KEY ENZYMES IN DOPAMINE BIOSYNTHESIS

Por Bowling, Kevin M., Huang, Zhinong, Xu, Dong, Ferdousy, Faiza, Funderburk, Christopher D., Karnik, Nirmala, Neckameyer, Wendi, O'Donnell, Janis M.
Publicado em 2008

Analysis of DNA Methylation in a Three-Generation Family Reveals Widespread Genetic Influence on Epigenetic Regulation

Por Gertz, Jason, Varley, Katherine E., Reddy, Timothy E., Bowling, Kevin M., Pauli, Florencia, Parker, Stephanie L., Kucera, Katerina S., Willard, Huntington F., Myers, Richard M.
Publicado em 2011

Recurrent read-through fusion transcripts in breast cancer

Por Varley, Katherine E., Gertz, Jason, Roberts, Brian S., Davis, Nicholas S., Bowling, Kevin M., Kirby, Marie K., Nesmith, Amy S., Oliver, Patsy G., Grizzle, William E., Forero, Andres, Buchsbaum, Donald J., LoBuglio, Albert F., Myers, Richard M.
Publicado em 2014

Dynamic DNA methylation across diverse human cell lines and tissues

Por Varley, Katherine E., Gertz, Jason, Bowling, Kevin M., Parker, Stephanie L., Reddy, Timothy E., Pauli-Behn, Florencia, Cross, Marie K., Williams, Brian A., Stamatoyannopoulos, John A., Crawford, Gregory E., Absher, Devin M., Wold, Barbara J., Myers, Richard M.
Publicado em 2013

Eliciting Preferences on Secondary Findings: The Preferences Instrument for Genomic Secondary Results (PIGSR)

Por Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Frances Wright, M., Westbrook, Matthew J., Rich, Carla A., Bowling, Kevin M., Lose, Edward J., Martina Bebin, E., Simmons, Shirley, Myers, John A., Barsh, Greg, Myers, Richard M., Cooper, Greg M., Pulley, Jill M., Rothstein, Mark A., Wright Clayton, Ellen
Publicado no Genet Med (2016)

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Por 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
Publicado no Neurol Genet (2016)

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Por Amendola, Laura M., Jarvik, Gail P., Leo, Michael C., McLaughlin, Heather M., Akkari, Yassmine, Amaral, Michelle D., Berg, Jonathan S., Biswas, Sawona, Bowling, Kevin M., Conlin, Laura K., Cooper, Greg M., Dorschner, Michael O., Dulik, Matthew C., Ghazani, Arezou A., Ghosh, Rajarshi, Green, Robert C., Hart, Ragan, Horton, Carrie, Johnston, Jennifer J., Lebo, Matthew S., Milosavljevic, Aleksandar, Ou, Jeffrey, Pak, Christine M., Patel, Ronak Y., Punj, Sumit, Richards, Carolyn Sue, Salama, Joseph, Strande, Natasha T., Yang, Yaping, Plon, Sharon E., Biesecker, Leslie G., Rehm, Heidi L.
Publicado no Am J Hum Genet (2016)

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Por Amendola, Laura M., Jarvik, Gail P., Leo, Michael C., McLaughlin, Heather M., Akkari, Yassmine, Amaral, Michelle D., Berg, Jonathan S., Biswas, Sawona, Bowling, Kevin M., Conlin, Laura K., Cooper, Greg M., Dorschner, Michael O., Dulik, Matthew C., Ghazani, Arezou A., Ghosh, Rajarshi, Green, Robert C., Hart, Ragan, Horton, Carrie, Johnston, Jennifer J., Lebo, Matthew S., Milosavljevic, Aleksandar, Ou, Jeffrey, Pak, Christine M., Patel, Ronak Y., Punj, Sumit, Richards, Carolyn Sue, Salama, Joseph, Strande, Natasha T., Yang, Yaping, Plon, Sharon E., Biesecker, Leslie G., Rehm, Heidi L.
Publicado no Am J Hum Genet (2016)

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Por 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
Publicado no Am J Hum Genet (2017)

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Por Green, Robert C., Goddard, Katrina A.B., Jarvik, Gail P., Amendola, Laura M., Appelbaum, Paul S., Berg, Jonathan S., Bernhardt, Barbara A., Biesecker, Leslie G., Biswas, Sawona, Blout, Carrie L., Bowling, Kevin M., Brothers, Kyle B., Burke, Wylie, Caga-anan, Charlisse F., Chinnaiyan, Arul M., Chung, Wendy K., Clayton, Ellen W., Cooper, Gregory M., East, Kelly, Evans, James P., Fullerton, Stephanie M., Garraway, Levi A., Garrett, Jeremy R., Gray, Stacy W., Henderson, Gail E., Hindorff, Lucia A., Holm, Ingrid A., Lewis, Michelle Huckaby, Hutter, Carolyn M., Janne, Pasi A., Joffe, Steven, Kaufman, David, Knoppers, Bartha M., Koenig, Barbara A., Krantz, Ian D., Manolio, Teri A., McCullough, Laurence, McEwen, Jean, McGuire, Amy, Muzny, Donna, Myers, Richard M., Nickerson, Deborah A., Ou, Jeffrey, Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Rehm, Heidi L., Roberts, J. Scott, Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Sharp, Richard R., Shirts, Brian, Spinner, Nancy B., Tabor, Holly K., Tarczy-Hornoch, Peter, Veenstra, David L., Wagle, Nikhil, Weck, Karen, Wilfond, Benjamin S., Wilhelmsen, Kirk, Wolf, Susan M., Wynn, Julia, Yu, Joon-Ho
Publicado no Am J Hum Genet (2016)

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Por Green, Robert C., Goddard, Katrina A.B., Jarvik, Gail P., Amendola, Laura M., Appelbaum, Paul S., Berg, Jonathan S., Bernhardt, Barbara A., Biesecker, Leslie G., Biswas, Sawona, Blout, Carrie L., Bowling, Kevin M., Brothers, Kyle B., Burke, Wylie, Caga-anan, Charlisse F., Chinnaiyan, Arul M., Chung, Wendy K., Clayton, Ellen W., Cooper, Gregory M., East, Kelly, Evans, James P., Fullerton, Stephanie M., Garraway, Levi A., Garrett, Jeremy R., Gray, Stacy W., Henderson, Gail E., Hindorff, Lucia A., Holm, Ingrid A., Lewis, Michelle Huckaby, Hutter, Carolyn M., Janne, Pasi A., Joffe, Steven, Kaufman, David, Knoppers, Bartha M., Koenig, Barbara A., Krantz, Ian D., Manolio, Teri A., McCullough, Laurence, McEwen, Jean, McGuire, Amy, Muzny, Donna, Myers, Richard M., Nickerson, Deborah A., Ou, Jeffrey, Parsons, Donald W., Petersen, Gloria M., Plon, Sharon E., Rehm, Heidi L., Roberts, J. Scott, Robinson, Dan, Salama, Joseph S., Scollon, Sarah, Sharp, Richard R., Shirts, Brian, Spinner, Nancy B., Tabor, Holly K., Tarczy-Hornoch, Peter, Veenstra, David L., Wagle, Nikhil, Weck, Karen, Wilfond, Benjamin S., Wilhelmsen, Kirk, Wolf, Susan M., Wynn, Julia, Yu, Joon-Ho
Publicado no Am J Hum Genet (2016)