Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis von Sanders, Morgan, Lawlor, James M. J., Li, Xiaopeng, Schuen, John N., Millard, Susan L., Zhang, Xi, Buck, Leah, Grysko, Bethany, Uhl, Katie L., Hinds, David, Stenger, Cynthia L., Morris, Michele, Lamb, Neil, Levy, Hara, Bupp, Caleb, Prokop, Jeremy W.

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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder von 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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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing von 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.

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Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls von 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.

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A state-based approach to genomics for rare disease and population screening von 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.

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Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders von 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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Genomic sequencing identifies secondary findings in a cohort of parent study participants von 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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Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles von Cochran, J Nicholas, McKinley, Emily C, Cochran, Meagan, Amaral, Michelle D, Moyers, Bryan A, Lasseigne, Brittany N, Gray, David E, Lawlor, James M J, Prokop, Jeremy W, Geier, Ethan G, Holt, James M, Thompson, Michelle L, Newberry, J Scott, Yokoyama, Jennifer S, Worthey, Elizabeth A, Geldmacher, David S, Love, Marissa Natelson, Cooper, Gregory M, Myers, Richard M, Roberson, Erik D

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Coming Full Circle: Reflections and Inspirations from a Cystic Fibrosis Patient Scientist Panel von Nowakowski, Alexandra “Xan” C. H., Balasa, Gabriella “Ella”, Figueira, Miriam F., LaRosa, Francis “Tré” J., Lawlor, James M. J.

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Contributions of rare and common variation to early-onset and atypical dementia risk von Wright, Carter A, Taylor, Jared W, Cochran, Meagan, Lawlor, James M J, Moyers, Belle A, Amaral, Michelle D, Bonnstetter, Zachary T, Carter, Princess, Solomon, Veronika, Myers, Richard M, Love, Marissa Natelson, Geldmacher, David S, Cooper, Sara J, Roberson, Erik D, Cochran, J Nicholas

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Genome sequencing as a first-line diagnostic test for hospitalized infants von 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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Sublattice asymmetry of impurity doping in graphene: A review von Lawlor, James A, Ferreira, Mauro S

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Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience von Muenzen, Kathleen D., Amendola, Laura M., Kauffman, Tia L., Mittendorf, Kathleen F., Bensen, Jeannette T., Chen, Flavia, Green, Richard, Powell, Bradford C., Kvale, Mark, Angelo, Frank, Farnan, Laura, Fullerton, Stephanie M., Robinson, Jill O., Li, Tianran, Murali, Priyanka, Lawlor, James M.J., Ou, Jeffrey, Hindorff, Lucia A., Jarvik, Gail P., Crosslin, David R.

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The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life von 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

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Green functions of graphene: An analytic approach von Lawlor, James A., Ferreira, Mauro S.

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The influence of Gaussian strain on sublattice selectivity of impurities in graphene von Lawlor, James A, Rocha, Claudia G, Torres, Vanessa, Latgé, Andrea, Ferreira, Mauro S

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Sublattice imbalance of substitutionally doped nitrogen in graphene von Lawlor, James A., Gorman, Paul D., Power, Stephen R., Bezerra, Claudionor G., Ferreira, Mauro S.

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

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P508: Medically-actionable disease risk variants in a diverse population von Kelley, Whitley, Moss, Irene, Asif, Irfan, Cooper, Gregory, Finnila, Candice, Hiatt, Susan, Latner, Donald, Lawlor, James, East, Kelly, May, Thomas, Nakano-Okuno, Mariko, Sodeke, Stephen, Barsh, Gregory, Limdi, Nita, Might, Matthew, Korf, Bruce

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O23: Comparison of polygenic risk score in patients with early-onset vs late-onset dementia and the contribution of rare genetic variation von Wright, Carter, Cooper, Sara, Cochran, Nicholas, Cochran, Meagan, Moyers, Belle, Roberson, Erik, Lawlor, James, Myers, Richard, Taylor, Jared, Solomon, Veronika, Geldmacher, David, Love, Marissa Natelson

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