Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum

od Sellars, Elizabeth A., Sullivan, Bonnie R., Schaefer, G. Bradley
izdano v Clin Case Rep (2016)

The H19 Differentially Methylated Region Marks the Parental Origin of a Heterologous Locus without Gametic DNA Methylation

od Park, Kye-Yoon, Sellars, Elizabeth A., Grinberg, Alexander, Huang, Sing-Ping, Pfeifer, Karl
Izdano 2004

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

od Slone, Jesse, Peng, Yanyan, Chamberlin, Adam, Harris, Belinda, Kaylor, Julie, McDonald, Marie T., Lemmon, Monica, El-Dairi, Mays Antonine, Tchapyjnikov, Dmitry, Gonzalez-Krellwitz, Laura A, Sellars, Elizabeth A., McConkie-Rosell, Allyn, Reinholdt, Laura G., Huang, Taosheng
izdano v J Hum Genet (2018)

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

od Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara
izdano v Am J Hum Genet (2017)

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

od Keppler-Noreuil, Kim M, Sapp, Julie C, Lindhurst, Marjorie J, Parker, Victoria ER, Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L, Huson, Susan M, Whitehouse, Richard W, Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E, Fraser, Jamie L, Gucev, Zoran, Crow, Yanick J, Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A, Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L, Sutton, V Reid, Tasic, Velibor, Graham, John M, Geer, Joseph, Henderson, Alex, Semple, Robert K, Biesecker, Leslie G
izdano v Am J Med Genet A (2014)

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

od Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K., Hernan, Rebecca, Alkuraya, Fowzan S., Alsulaiman, Ahood, Al-Muhaizea, Mohammad A., Lesca, Gaetan, Pons, Linda, Labalme, Audrey, Laux, Linda, Bryant, Emily, Brown, Natasha J., Savva, Elena, Ayres, Samantha, Eratne, Dhamidhu, Peeters, Hilde, Bilan, Frédéric, Letienne-Cejudo, Lucile, Gilbert-Dussardier, Brigitte, Ruiz-Arana, Inge-Lore, Merlini, Jenny Meylan, Boizot, Alexia, Bartoloni, Lucia, Santoni, Federico, Karlowicz, Danielle, McDonald, Marie, Wu, Huidan, Hu, Zhengmao, Chen, Guodong, Ou, Jianjun, Brasch-Andersen, Charlotte, Fagerberg, Christina R., Dreyer, Inken, chun-hui Tsai, Anne, Slegesky, Valerie, McGee, Rose B., Daniels, Brina, Sellars, Elizabeth A., Carpenter, Lori A., Schaefer, Bradley, Sacoto, Maria J. Guillen, Begtrup, Amber, Schnur, Rhonda E., Punj, Sumit, Wentzensen, Ingrid M., Rhodes, Lindsay, Pan, Qian, Bernier, Raphael A., Chen, Chao, Eichler, Evan E., Xia, Kun
izdano v Am J Hum Genet (2020)

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

od Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre
izdano v Am J Hum Genet (2021)

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

od Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Prescott, Trine E., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Elgersma, Ype, Mercier, Sandra
izdano v Am J Hum Genet (2017)

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

od 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.
izdano v Hum Mutat (2019)