Genomic diagnosis for children with intellectual disability and/or developmental delay
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
Published in Genome medicine (30.05.2017)
Published in Genome medicine (30.05.2017)
Get full text
Journal Article
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy
von Wintzingerode, Lydia, Ben-Zeev, Bruria, Cesario, Claudia, Chan, Katie M., Depienne, Christel, Elpeleg, Orly, Iascone, Maria, Kelley, Whitley V., Nassogne, Marie-Cécile, Niceta, Marcello, Pezzani, Lidia, Rahner, Nils, Revencu, Nicole, Bekheirnia, Mir Reza, Santiago-Sim, Teresa, Tartaglia, Marco, Thompson, Michelle L., Trivisano, Marina, Hentschel, Julia, Sticht, Heinrich, Abou Jamra, Rami, Oppermann, Henry
Published in Genetics in medicine (01.07.2023)
Published in Genetics in medicine (01.07.2023)
Get full text
Journal Article
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
Felker, Stephanie A., Lawlor, James M.J., 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 C.E., Rashid, Salman, Kelly, Melissa A., Nakouzi, Ghunwa, Hendon, Laura G., Bebin, E. Martina, Kenny, Eimear E., Cooper, Gregory M.
Published in Genetics in medicine (01.08.2023)
Published in Genetics in medicine (01.08.2023)
Get full text
Journal Article
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls
Bowling, Kevin M., Thompson, Michelle L., Gray, David E., Lawlor, James M. J., Williams, Kelly, East, Kelly M., Kelley, Whitley V., Moss, Irene P., Absher, Devin M., Partridge, E. Christopher, Hurst, Anna C. E., Edberg, Jeffrey C., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M.
Published in Genetics in medicine (01.02.2021)
Published in Genetics in medicine (01.02.2021)
Get full text
Journal Article
338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care
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.
Published in Journal of clinical and translational science (01.04.2023)
Published in Journal of clinical and translational science (01.04.2023)
Get full text
Journal Article
Errors in genome sequencing result disclosures: A randomized controlled trial comparing neonatology non-genetics healthcare professionals and genetic counselors
Coleman, Tanner F., Pugh, Jada, Kelley, Whitley V., East, Kelly M., Greve, Veronica, Finnila, Candice R., Henson, Ava, Korf, Bruce R., Barsh, Gregory S., Cooper, Gregory M., Cochran, Meagan E.
Published in Genetics in medicine (01.09.2024)
Published in Genetics in medicine (01.09.2024)
Get full text
Journal Article
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Hiatt, Susan M, Lawlor, James Mj, Handley, Lori H, Latner, Donald R, Bonnstetter, Zachary T, Finnila, Candice R, Thompson, Michelle L, Boston, Lori Beth, Williams, Melissa, Rodriguez-Nunez, Ivan, Jenkins, Jerry, Kelley, Whitley V, Bebin, E Martina, Lopez, Michael A, Hurst, Anna Ce, Korf, Bruce R, Schmutz, Jeremy, Grimwood, Jane, Cooper, Gregory M
Published in Genome research (19.09.2024)
Published in Genome research (19.09.2024)
Get full text
Journal Article
Medical and psychosocial outcomes of state‐funded population genomic screening
Cannon, Ashley, McMillan, Olivia, Kelley, Whitley V., East, Kelly M., Cochran, Meagan E., Miskell, Edrika L., Moss, Irene P., Garner‐Duckworth, Sherilyn, Redden, David T., Might, Matthew, Barsh, Gregory S., Korf, Bruce R.
Published in Clinical genetics (01.10.2023)
Published in Clinical genetics (01.10.2023)
Get full text
Journal Article
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Pavinato, Lisa, Stanic, Jennifer, Barzasi, Marta, Gurgone, Antonia, Chiantia, Giuseppe, Cipriani, Valentina, Eberini, Ivano, Palazzolo, Luca, Di Luca, Monica, Costa, Alex, Marcantoni, Andrea, Biamino, Elisa, Spada, Marco, Hiatt, Susan M, Kelley, Whitley V, Vestito, Letizia, Sisodiya, Sanjay M, Efthymiou, Stephanie, Chand, Prem, Kaiyrzhanov, Rauan, Bruselles, Alessandro, Cardaropoli, Simona, Tartaglia, Marco, De Rubeis, Silvia, Buxbaum, Joseph D, Smedley, Damian, Ferrero, Giovanni Battista, Giustetto, Maurizio, Gardoni, Fabrizio, Brusco, Alfredo
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
Get full text
Journal Article
Genomic sequencing identifies secondary findings in a cohort of parent study participants
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.
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
Get full text
Journal Article
A state-based approach to genomics for rare disease and population screening
East, Kelly M., Kelley, Whitley V., Cannon, Ashley, Cochran, Meagan E., Moss, Irene P., May, Thomas, Nakano-Okuno, Mariko, Sodeke, Stephen O., Edberg, Jeffrey C., Cimino, James J., Fouad, Mona, Curry, William A., Hurst, Anna C.E., Bowling, Kevin M., Thompson, Michelle L., Bebin, E. Martina, Johnson, Robert D., Acemgil, Aras, Crossman, David K., Finnila, Candice R., Gray, David E., Greve, Veronica, Hardy, Sharonda, Hiatt, Susan M., Latner, Donald R., Lawlor, James M.J., Miskell, Edrika L., Narmore, Whitney, Schach, Julie H., Cooper, Gregory M., Might, Matthew, Barsh, Gregory S., Korf, Bruce R.
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
Get full text
Journal Article
Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results
Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Wright, M. Frances, Westbrook, Matthew J., Rich, Carla A., Bowling, Kevin M., Lose, Edward J., Bebin, E. Martina, Simmons, Shirley, Myers, John A., Barsh, Greg, Myers, Richard M., Cooper, Greg M., Pulley, Jill M., Rothstein, Mark A., Clayton, Ellen Wright
Published in Genetics in medicine (01.03.2017)
Published in Genetics in medicine (01.03.2017)
Get full text
Journal Article
Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting
East, Kelly M, Cochran, Meagan E, Kelley, Whitley V, Greve, Veronica, Finnila, Candice R, Coleman, Tanner, Jennings, Mikayla, Alexander, Latonya, Rahn, Elizabeth J, Danila, Maria I, Barsh, Greg, Korf, Bruce, Cooper, Greg
Published in Journal of personalized medicine (05.03.2022)
Published in Journal of personalized medicine (05.03.2022)
Get full text
Journal Article
Understanding the present and preparing for the future: Exploring the needs of diagnostic and elective genomic medicine patients
East, Kelly M., Cochran, Meagan, Kelley, Whitley V., Greve, Veronica, Emmerson, Kristina, Raines, Grace, Cochran, Jesse Nicholas, Hott, Adam M., Bick, David
Published in Journal of genetic counseling (01.04.2019)
Published in Journal of genetic counseling (01.04.2019)
Get full text
Journal Article
Recruiting diversity where it exists: The Alabama Genomic Health Initiative
May, Thomas, Cannon, Ashley, Moss, Irene P., Nakano‐Okuno, Mariko, Hardy, Sharonda, Miskell, Edrika L., Kelley, Whitley V., Curry, William, East, Kelly M., Acemgil, Aras, Schach, Julie, Sodeke, Stephen O., Fouad, Mona N., Johnson, Robert D., Cimino, James, Richards, Jaimie L., Knight, Sara J., Korf, Bruce
Published in Journal of genetic counseling (01.06.2020)
Published in Journal of genetic counseling (01.06.2020)
Get full text
Journal Article
The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life
Childerhose, Janet Elizabeth, Rich, Carla, East, Kelly M, Kelley, Whitley V, Simmons, Shirley, Finnila, Candice R, Bowling, Kevin, Amaral, Michelle, Hiatt, Susan M, Thompson, Michelle, Gray, David E, Lawlor, James M J, Myers, Richard M, Barsh, Gregory S, Lose, Edward J, Bebin, Martina E, Cooper, Greg M, Brothers, Kyle Bertram
Published in AJOB empirical bioethics (03.07.2021)
Published in AJOB empirical bioethics (03.07.2021)
Get more information
Journal Article
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Hart, M. Ragan, Biesecker, Barbara B., Blout, Carrie L., Christensen, Kurt D., Amendola, Laura M., Bergstrom, Katie L., Biswas, Sawona, Bowling, Kevin M., Brothers, Kyle B., Conlin, Laura K., Cooper, Greg M., Dulik, Matthew C., East, Kelly M., Everett, Jessica N., Finnila, Candice R., Ghazani, Arezou A., Gilmore, Marian J., Goddard, Katrina A. B, Jarvik, Gail P., Johnston, Jennifer J., Kauffman, Tia L., Kelley, Whitley V., Krier, Joel B., Lewis, Katie L., McGuire, Amy L., McMullen, Carmit, Ou, Jeffrey, Plon, Sharon E., Rehm, Heidi L., Richards, C. Sue, Romasko, Edward J., Miren Sagardia, Ane, Spinner, Nancy B., Thompson, Michelle L., Turbitt, Erin, Vassy, Jason L., Wilfond, Benjamin S., Veenstra, David L., Berg, Jonathan S., Green, Robert C., Biesecker, Leslie G., Hindorff, Lucia A.
Published in Genetics in medicine (01.05.2019)
Published in Genetics in medicine (01.05.2019)
Get full text
Journal Article
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, Chen, Xiaoli
Published in American journal of human genetics (07.11.2024)
Published in American journal of human genetics (07.11.2024)
Get full text
Journal Article
OP055: Comparing error rates in disclosure of genome sequencing results between non-genetics providers and genetic counselors
Cochran, Meagan, East, Kelly, Kelley, Whitley V., Greve, Veronica, Henson, Ava, Finnila, Candice, Danila, Maria, Savich, Renate, Brothers, Kyle, Spedale, Steven, Patrick-Esteve, Jessica, Sims, Brian, Carlo, Waldemar, Barsh, Gregory, Korf, Bruce, Cooper, Gregory
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
Get full text
Journal Article