A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization

por Li, Leping, Perera, Lalith, Varghese, Sonia A., Shiloh-Malawsky, Yael, Hunter, Senyene E., Sneddon, Tam P., Powell, Cynthia M., Matera, A. Gregory, Fan, Zheng
Publicado 2023

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete choice experiment

por Lewis, Megan A., Stine, Alex, Paquin, Ryan S., Mansfield, Carol, Wood, Dallas, Rini, Christine, Roche, Myra I., Powell, Cynthia M., Berg, Jonathan S., Bailey, Donald B.
Publicado 2017

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

por DeCristo, Daniela M., Milko, Laura V., O’Daniel, Julianne M., Foreman, Ann Katherine M., Mollison, Lonna F., Powell, Bradford C., Powell, Cynthia M., Berg, Jonathan S.
Publicado 2021

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

por Lindhurst, Marjorie J., Wang, Ji-an, Bloomhardt, Hadley M., Witkowski, Alison M., Singh, Larry N., Bick, David P., Gambello, Michael J., Powell, Cynthia M., Lee, Chyi-Chia Richard, Darling, Thomas N., Biesecker, Leslie G.
Publicado 2013

Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized...

por Milko, Laura V., Rini, Christine, Lewis, Megan A., Butterfield, Rita M., Lin, Feng-Chang, Paquin, Ryan S., Powell, Bradford C., Roche, Myra I., Souris, Katherine J., Bailey, Donald B., Berg, Jonathan S., Powell, Cynthia M.
Publicado 2018

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

por Milko, Laura V., Chen, Flavia, Chan, Kee, Brower, Amy M., Agrawal, Pankaj B., Beggs, Alan H., Berg, Jonathan S., Brenner, Steven E., Holm, Ingrid A., Koenig, Barbara A., Parad, Richard B., Powell, Cynthia M., Kingsmore, Stephen F.
Publicado 2019

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

por Lee, Stacey, Clinard, Kristin, Young, Sarah P., Rehder, Catherine W., Fan, Zheng, Calikoglu, Ali S., Bali, Deeksha S., Bailey, Donald B., Gehtland, Lisa M., Millington, David S., Patel, Hari S., Beckloff, Sara E., Zimmerman, Scott J., Powell, Cynthia M., Taylor, Jennifer L.
Publicado 2020

Outreach to new mothers through direct mail and email: recruitment in the Early Check research study

por Paquin, Ryan S., Lewis, Megan A., Harper, Blake A., Moultrie, Rebecca R., Gwaltney, Angela, Gehtland, Lisa M., Peay, Holly L., Duparc, Martin, Raspa, Melissa, Wheeler, Anne C., Powell, Cynthia M., King, Nancy M. P., Shone, Scott M., Bailey, Donald B.
Publicado 2021

Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges

por Vora, Neeta L., Powell, Bradford, Brandt, Alicia, Strande, Natasha, Hardisty, Emily, Gilmore, Kelly, Foreman, Ann Katherine M., Wilhelmsen, Kirk, Bizon, Chris, Reilly, Jason, Owen, Phil, Powell, Cynthia M., Skinner, Debra, Rini, Christine, Lyerly, Anne D., Boggess, Kim A., Weck, Karen, Berg, Jonathan S., Evans, James P.
Publicado 2017

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

por Kucera, Katerina S., Taylor, Jennifer L., Robles, Veronica R., Clinard, Kristin, Migliore, Brooke, Boyea, Beth Lincoln, Okoniewski, Katherine C., Duparc, Martin, Rehder, Catherine W., Shone, Scott M., Fan, Zheng, Raspa, Melissa, Peay, Holly L., Wheeler, Anne C., Powell, Cynthia M., Bailey, Donald B., Gehtland, Lisa M.
Publicado 2021

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

por Horstick, Eric J., Linsley, Jeremy W., Dowling, James J., Hauser, Michael A., McDonald, Kristin K., Ashley-Koch, Allison, Saint-Amant, Louis, Satish, Akhila, Cui, Wilson W., Zhou, Weibin, Sprague, Shawn M., Stamm, Demetra S., Powell, Cynthia M., Speer, Marcy C., Franzini-Armstrong, Clara, Hirata, Hiromi, Kuwada, John Y.
Publicado 2013

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

por Berg, Jonathan S., Foreman, Ann Katherine M., O'Daniel, Julianne M., Booker, Jessica K., Boshe, Lacey, Carey, Timothy, Crooks, Kristy R., Jensen, Brian C., Juengst, Eric T., Lee, Kristy, Nelson, Daniel K., Powell, Bradford C., Powell, Cynthia M., Roche, Myra I., Skrzynia, Cecile, Strande, Natasha T., Weck, Karen E., Wilhelmsen, Kirk C., Evans, James P.
Publicado 2016

Early Check: translational science at the intersection of public health and newborn screening

por Bailey, Donald B., Gehtland, Lisa M., Lewis, Megan A., Peay, Holly, Raspa, Melissa, Shone, Scott M., Taylor, Jennifer L., Wheeler, Anne C., Cotten, Michael, King, Nancy M. P., Powell, Cynthia M., Biesecker, Barbara, Bishop, Christine E., Boyea, Beth Lincoln, Duparc, Martin, Harper, Blake A., Kemper, Alex R., Lee, Stacey N., Moultrie, Rebecca, Okoniewski, Katherine C., Paquin, Ryan S., Pettit, Denise, Porter, Katherine Ackerman, Zimmerman, Scott J.
Publicado 2019

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

por Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.
Publicado 2021

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

por Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Publicado 2015

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

por Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.
Publicado 2019