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 2011

Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia

por Claassen, David, Boals, Michelle, Bowling, Kevin M., Cooper, Gregory M., Cox, Jennifer, Hershfield, Michael, Lewis, Sara, Wlodarski, Marcin, Weiss, Mitchell J., Estepp, Jeremie H.
Publicado 2018

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

por Kazamel, Mohamed, Lopez, Michael A., Bebin, Martina, Bowling, Kevin, Korf, Bruce R., Barsh, Gregory S., Cooper, Gregory M., Hurst, Anna C.E., Ubogu, Eroboghene E.
Publicado 2020

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 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 2013

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

por Bowling, Kevin M., Thompson, Michelle L., Kelly, Melissa A., Scollon, Sarah, Slavotinek, Anne M., Powell, Bradford C., Kirmse, Brian M., Hendon, Laura G., Brothers, Kyle B., Korf, Bruce R., Cooper, Gregory M., Greally, John M., Hurst, Anna C. E.
Publicado 2022

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 2016

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

por 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.
Publicado 2021

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 2016

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

por Felker, Stephanie A, Lawlor, James MJ, Hiatt, Susan M, Thompson, Michelle L, Latner, Donald R, Finnila, Candice R, Bowling, Kevin M, Bonnstetter, Zachary T, Bonini, Katherine E, Kelly, Nicole R, Kelley, Whitley V, Hurst, Anna CE, Kelly, Melissa A, Nakouzi, Ghunwa, Hendon, Laura G, Bebin, E Martina, Kenny, Eimear E, Cooper, Gregory M
Publicado 2023

Post-mortem molecular profiling of three psychiatric disorders

por Ramaker, Ryne C., Bowling, Kevin M., Lasseigne, Brittany N., Hagenauer, Megan H., Hardigan, Andrew A., Davis, Nicholas S., Gertz, Jason, Cartagena, Preston M., Walsh, David M., Vawter, Marquis P., Jones, Edward G., Schatzberg, Alan F., Barchas, Jack D., Watson, Stanley J., Bunney, Blynn G., Akil, Huda, Bunney, William E., Li, Jun Z., Cooper, Sara J., Myers, Richard M.
Publicado 2017

Genomic sequencing identifies secondary findings in a cohort of parent study participants

por 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.
Publicado 2018

338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care

por Limdi, Nita A, Absher, Devin, Asif, Irf, Bateman, Lori, Barsh, Greg, Bowling, Kevin M., Cooper, Gregory M., Davis, Brittney H., East, Kelly M., Finnila, Candice R., Goff, Blake, Hiatt, Susan, Kelly, Melissa, Kelley, Whitley V., Korf, Bruce R., Latner, Donald R., Lawlor, James, May, Thomas, Might, Matt, Moss, Irene P., Nakano-Okuno, Mariko, Osborne, Tiffany, Sodeke, Stephen, Stout, Adriana, Thompson, Michelle L.
Publicado 2023

Genomic diagnosis for children with intellectual disability and/or developmental delay

por 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.
Publicado 2017

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

por Sanghvi, Rashesh V., Buhay, Christian J., Powell, Bradford C., Tsai, Ellen A., Dorschner, Michael O., Hong, Celine S., Lebo, Matthew S., Sasson, Ariella, Hanna, David S., McGee, Sean, Bowling, Kevin M., Cooper, Gregory M., Gray, David E., Lonigro, Robert J., Dunford, Andrew, Brennan, Christine A., Cibulskis, Carrie, Walker, Kimberly, Carneiro, Mauricio O., Sailsbery, Joshua, Hindorff, Lucia A., Robinson, Dan R., Santani, Avni, Sarmady, Mahdi, Rehm, Heidi L., Biesecker, Leslie G., Nickerson, Deborah A., Hutter, Carolyn M., Garraway, Levi, Muzny, Donna M., Wagle, Nikhil
Publicado 2017

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

por 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.
Publicado 2018

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

por 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.
Publicado 2018

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

por O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.
Publicado 2016

Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

por Lemke, Amy A., Thompson, Michelle L., Gimpel, Emily C., McNamara, Katelyn C., Rich, Carla A., Finnila, Candice R., Cochran, Meagan E., Lawlor, James M. J., East, Kelly M., Bowling, Kevin M., Latner, Donald R., Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Greve, Veronica, 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, Hughes, Trent, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C. E., Kirmse, Brian M., Savich, Renate, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M., Brothers, Kyle B.
Publicado 2023

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

por Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, van Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, van de Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel
Publicado 2021