Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18 by Boghosian-Sell, L, Mewar, R, Harrison, W, Shapiro, R M, Zackai, E H, Carey, J, Davis-Keppen, L, Hudgins, L, Overhauser, J

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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development by Sajan, Samin A, Brown, Carolyn M, Davis-Keppen, Laura, Burns, Kaitlyn, Royer, Erin, Coleman, Jessica A Cooley, Hilton, Benjamin A, DuPont, Barbara R, Perry, Denise L, Taft, Ryan J, Kesari, Akanchha

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Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families by Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L., Flanagan, Sarah E., Edghill, Emma L., Hussain, Khalid, Balafrej, Amina, Deeb, Asma, Buchanan, Charles R., Jefferson, Ian G., Mutair, Angham, Hattersley, Andrew T., Ellard, Sian

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Molecular mapping of the Edwards syndrome phenotype to two noncontiguous region on chromosome 18 by BOGHOSIAN-SELL, L, MEWAR, R, HARRISON, W, SHAPIRO, R. M, ZACKAI, E. H, CAREY, J, DAVIS-KEPPEN, L, HUDGINS, L, OVERHAUSER, J

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Long-term safety and efficacy of sapropterin: The PKUDOS registry experience by Longo, Nicola, Arnold, Georgianne L., Pridjian, Gabriella, Enns, Gregory M., Ficicioglu, Can, Parker, Susan, Cohen-Pfeffer, Jessica L.

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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative by Bentler, Kristi, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Vockley, Jerry, Cameron, Cynthia A., Hiner, Sally J., Edick, Mathew J., Berry, Susan A., Thomas, Janet, Dodge, Melinda, Singh, Rani, Lakshman, Sangeetha, Coakley, Katie, Stembridge, Adrya, Russi, Alvaro Serrano, Phillips, Emily, Burton, Barbara, Edano, Clare, Shrestha, Sheela, Hoganson, George, Dwyer, Lauren, Hainline, Bryan, Romie, Susan, Hainline, Sarah, Asamoah, Alexander, Goodin, Kara, Rajakaruna, Cecilia, Jackson, Kelly, Hamosh, Ada, Vernon, Hilary, Smith, Nancy, Ahmad, Ayesha, Lipinski, Sue, Feldman, Gerald, Berry, Susan, Elsbecker, Sara, Bentler, Kristi, Font-Montgomery, Esperanza, Peck, Dawn, Pena, Loren D.M., Koeberl, Dwight D., Jiang, Yong-hui, Kishnani, Priya S., Rizzo, William, Dawson, Machelle, Ambrose, Nancy, Levy, Paul, Kronn, David, Fong, Chin-to, D’Aco, Kristin, Hart, Theresa, Erbe, Richard, Samons, Melissa, Leslie, Nancy, Powers, Racheal, Bartholomew, Dennis, Goff, Melanie, vanCalcar, Sandy, Hansen, Joyanna, Arnold, Georgianne, Vockley, Jerry, Walsh-Vockley, Cate, Rhead, William, Dimmock, David, Engelking, Paula, Bird, Cassie, Swan, Ashley, Schwoerer, Jessica Scott, Henry, Sonja, Narumanchi, TaraChandra, Hummel, Marybeth, Wilkins, Jennie, Davis-Keppen, Laura, Stein, Quinn, Loman, Rebecca, Cameron, Cynthia, Edick, Mathew J., Hiner, Sally J., Justice, Kaitlin, Zhai, Shaohui

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Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern by Stein, Quinn P., Boyle, Jeffrey G., Crotwell, Patricia L., Flanagan, Jason D., Johnson, Kiley J., Davis-Keppen, Laura, Van Eerden, Peter, Woltanski, Amelia R., Watson, William J.

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing by Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Deignan, Joshua L., Kang, Sung-Hae, Arboleda, Valerie A., Senaratne, T. Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S., Kianmahd, Jessica, Hinkamp, Franceska L., Neustadt, Ahna M., Martinez-Agosto, Julian A., Fogel, Brent L., Quintero-Rivera, Fabiola, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

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Novel variants identified in CKAP2L in two siblings with Filippi syndrome by Patrick, Ryan J, Weimer, Jill, Davis-Keppen, Laura, Landsverk, Megan L

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Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures by Slavotinek, Anne, van Hagen, Johanna M., Kalsner, Louisa, Pai, Shashidhar, Davis-Keppen, Laura, Ohden, Lisa, Weber, Yvonne G., Macke, Erica L., Klee, Eric W., Morava, Eva, Gunderson, Lauren, Person, Richard, Liu, Shuxi, Weiss, Marjan

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The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development by Sajan, Samin A, Brown, Carolyn M, Davis-Keppen, Laura, Burns, Kaitlyn, Royer, Erin, Coleman, Jessica A Cooley, Hilton, Benjamin A, DuPont, Barbara R, Perry, Denise L, Taft, Ryan J, Kesari, Akanchha

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Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities by Adam, Margaret P., Hennekam, Raoul C.M., Keppen, Laura Davis, Bull, Marilyn J., Clericuzio, Carol L., Burke, Leah W., Ormond, Kelly E., Hoyme, Eugene H.

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Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern by Stein, Quinn P, Boyle, Jeffrey G, Crotwell, Patricia L, Flanagan, Jason D, Johnson, Kiley J, Davis-Keppen, Laura, Van Eerden, Peter, Woltanski, Amelia R, Watson, William J

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