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)
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The motivation and process for developing a consortium‐wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care
Hoban, Hannah G., Yip, Tiffany A., Chau, Joanna C., Bensen, Jeannette T., Desrosiers, Lauren R., Finnila, Candice R., Hindorff, Lucia A., Kelly, Nicole R., Lynch, Frances L., Rolf, Bradley A., Smith, Hadley S., Wasserstein, Melissa P., Hassmiller Lich, Kristen
Published in Clinical and translational science (01.01.2024)
Published in Clinical and translational science (01.01.2024)
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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)
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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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)
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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)
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, Lyon, Gholson J.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Journal Article
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Hiatt, Susan M, Lawlor, James M J, 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 C E, Korf, Bruce R, Schmutz, Jeremy, Grimwood, Jane, Cooper, Gregory M
Published in Genome research (20.11.2024)
Published in Genome research (20.11.2024)
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Genome sequencing as a first-line diagnostic test for hospitalized infants
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.
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T, Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W, Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M, Finnila, Candice R, Guillen Sacoto, Maria J, Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S, McDermott, John Henry, Meltzer, Meira R, Monaghan, Kristin G, Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M, Schreiber, John M, Sirsi, Deepa, Wierenga, Klaas J, Wojcik, Monica H, Papuc, Sorina M, Steindl, Katharina, Sticht, Heinrich, Rauch, Anita
Published in European journal of human genetics : EJHG (01.05.2019)
Published in European journal of human genetics : EJHG (01.05.2019)
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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)
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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)
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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)
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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)
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A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Borroto, Maria Carla, Michaud, Coralie, Hudon, Chloé, Agrawal, Pankaj B, Agre, Katherine, Applegate, Carolyn D, Beggs, Alan H, Bjornsson, Hans T, Callewaert, Bert, Chen, Mei-Jan, Curry, Cynthia, Devinsky, Orrin, Dudding-Byth, Tracy, Fagan, Kelly, Finnila, Candice R, Gavrilova, Ralitza, Genetti, Casie A, Hiatt, Susan M, Hildebrandt, Friedhelm, Wojcik, Monica H, Kleefstra, Tjitske, Kolvenbach, Caroline M, Korf, Bruce R, Kruszka, Paul, Li, Hong, Litwin, Jessica, Marcadier, Julien, Platzer, Konrad, Blackburn, Patrick R, Reijnders, Margot R F, Reutter, Heiko, Schanze, Ina, Shieh, Joseph T, Stevens, Cathy A, Valivullah, Zaheer, van den Boogaard, Marie-José, Klee, Eric W, Campeau, Philippe M
Published in Genes (06.08.2024)
Published in Genes (06.08.2024)
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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)
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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)
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Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
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
Published in Journal of personalized medicine (21.06.2023)
Published in Journal of personalized medicine (21.06.2023)
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Journal Article
Correction: 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., Sagardia, Ane Miren, 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)
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Journal Article
Participant Engagement in Translational Genomics Research: Respect for Persons—and Then Some
Childerhose, Janet E., Finnila, Candice R., Yu, Joon-Ho, Koenig, Barbara A., McEwen, Jean, Berg, Stacey L., Wilfond, Benjamin S., Appelbaum, Paul S., Brothers, Kyle B.
Published in Ethics & human research (01.09.2019)
Published in Ethics & human research (01.09.2019)
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