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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

by Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.
Published in American journal of human genetics (01.11.2018)

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Extreme Preterm Infant Rates of Overweight and Obesity at School Age in the SUPPORT Neuroimaging and Neurodevelopmental Outcomes Cohort

by Heyne, Roy, Higgins, Rosemary D., Caplan, Michael S., Hensman, Angelita M., Vieira, Elisa, Alksninis, Barbara, Keszler, Mary Lenore, Leach, Theresa M., Watson, Victoria E., Fanaroff, Avroy A., Wilson-Costello, Deanne E., Newman, Nancy S., Taylor, H. Gerry, Zadell, Arlene, DiFiore, Julie, Bhola, Monika, Friedman, Harriet G., Bulas, Dorothy, Cotten, C. Michael, Gustafson, Kathryn E., Auten, Kathy J., Fisher, Kimberley A., Foy, Katherine A., Lohmeyer, Melody B., Malcolm, William F., Wallace, David K., Buchter, Susie, Piazza, Anthony J., Fritz, Sobha, Hale, Ellen C., Hutchinson, Amy K., Loggins, Yvonne, Archer, Stephanie Wilson, Papile, Lu-Ann, Tyson, Jon E., Duncan, Andrea Freeman, Dempsey, Allison G., Gail, Dorothy B., Kiley, James P., Newman, Jamie E., Auman, Jeanette O'Donnell, Hammond, Jane A., Poole, W. Kenneth, DeAnda, Maria Elena, Ball, M. Bethany, Goodlin, Gabrielle T., Fiascone, John M., McGowan, Elisabeth C., Furey, Anne, MacKinnon, Brenda L., Nylen, Ellen, Sibley, Cecelia, Ambalavanan, Namasivayam, Peralta-Carcelen, Myriam, Phillips, Vivien A., Biasini, Fred J., Patterson, Cryshelle S., Rector, Richard V., Rodriguez, Leslie, Whitley, Sally, Garey, Donna, Rasmussen, Maynard R., Fuller, Martha G., Akshoomoff, Natacha, Rich, Wade, Arnell, Kathy, Bridge, Renee, Bell, Edward F., Colaizy, Tarah T., Widness, John A., Klein, Jonathan M., Eastman, Diane L., Watterberg, Kristi L., Fuller, Janell, Rohr, Julie, Montman, Rebecca, Sánchez, Pablo J., Rosenfeld, Charles R., Salhab, Walid A., Adams, Sally S., Grau, Laura, Guzman, Alicia, Hensley, Gaynelle, Heyne, Elizabeth T., Hickman, Jackie F., Morgan, Janet S., Lee, Lizette E., Boatman, Catherine Twell, Yoder, Bradley A., Faix, Roger G., Winter, Sarah, Baker, Shawna, Osborne, Karen A., Rau, Carrie A., Cunningham, Sean, Shankaran, Seetha, Slovis, Thomas L., Billian, Elizabeth, Goldston, Laura A., Johnson, Mary
Published in The Journal of pediatrics (01.09.2018)

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Growth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth

by Das, Abhik, Poindexter, Brenda B., Jobe, Alan H., Caplan, Michael S., Oh, William, Caskey, Melinda, Lillie, Sarah, Mehta, Kalida, Ventura, Suzy, Walden, Rachel V., Watson, Victoria E., Zadell, Arlene, Bhola, Monika, Yalcinkaya, Gulgun, Hessling, Jody, Goldberg, Ronald N., Ashley, Patricia, Foy, Katherine A., Freedman, Sharon F., Wallace, David K., Stoll, Barbara J., Blackwelder, Ann M., Dinkins, Elisabeth, Fritz, Sobha, Hale, Ellen C., LaRossa, Maureen Mulligan, Smikle, Gloria V., Dusick, Anna M., Lytle, Carolyn, Berberich, Mary Anne, Blaisdell, Carol J., Poole, W. Kenneth, Gantz, Marie G., Newman, Jamie E., Huitema, Carolyn Petrie, Wallace, Dennis, Bentley, Barbara, Davis, Alexis S., DeBattista, Anne M., Kohn, Jean G., Proud, Melinda S., Pyle, Renee P., McGowan, Elisabeth C., Furey, Anne, Brussa, Ana, Ambalavanan, Namasivayam, Collins, Monica V., Hopkins, Maria, Patterson, Cryshelle S., Vaucher, Yvonne E., Bridge, Renee, Fuller, Martha G., Posin, Donna, Widness, John A., Acarregui, Michael J., Bauer, Charles R., Frade Eguaras, Silvia M., Hamlin-Smith, Kasey, Mathews, Elaine O., Pierre, Helina, Myers, Gary J., Reubens, Linda J., Augostino, Lisa, Johnson, Julie Babish, Gelbard, Harris, Kushner, Emily, Mink, Jonathan, Wang, David, Rosenfeld, Charles R., Allen, James, Lepps, Melissa H., Madden, Linda A., Boatman, Catherine Twell, Vasil, Diana M., Kennedy, Kathleen A., Alaniz, Nora I., Harris, Beverly Foley, Lis, Anna E., McDavid, Georgia E., Poundstone, Margaret L., Pierce Tate, Patti L., Yoder, Bradley A., Bird, Karie, Burnett, Jill, Spencer, Cynthia, Dillard, Robert G., Jackson, Barbara G., Allred, Deborah Evans, Goldstein, Donald J., Halfond, Raquel, Welch, Cherrie D., Hounshell, Gail Wiley, Pappas, Athina, Goldston, Laura A., Bhandari, Vineet, Cervone, Pat, Poulsen, JoAnn, Butler, Christine G., Close, Nancy, Romano, Elaine
Published in The Journal of pediatrics (01.10.2021)

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Behavioral Deficits at 18-22 Months of Age Are Associated with Early Cerebellar Injury and Cognitive and Language Performance in Children Born Extremely Preterm

by Dempsey, Allison, Caplan, Michael S., Laptook, Abbot R., Vohr, Betty R., Hensman, Angelita M., Alksninis, Barbara, Cashore, Bill, Francis, Kim, Gingras, Dan, Walsh, Michele C., Newman, Nancy S., Zadell, Arlene, Yalcinkaya, Gulgun, Bulas, Dorothy, Foy, Katherine A., Freedman, Sharon F., Lohmeyer, Melody B., Carlton, David P., Adams-Chapman, Ira, Piazza, Anthony J., LaRossa, Maureen Mulligan, Higgins, Rosemary D., Sokol, Gregory M., Dusick, Anna M., Lemons, James A., Wilson, Leslie D., Hamer, Faithe, Cook, Ann B., Herron, Dianne E., Minnich, Heike M., Berberich, Mary Anne, Das, Abhik, Newman, Jamie E., Auman, Jeanette O'Donnell, Pickett, James W., Van Meurs, Krisa P., Stevenson, David K., Ball, M. Bethany, Pyle, Renee P., Weiss, Hali E., Frantz, Ivan D., McGowan, Elisabeth C., Brussa, Ana, Carlo, Waldemar A., Hopkins, Maria, Johnston, Kristen C., Patterson, Cryshelle S., Soong, Amanda, Vaucher, Yvonne E., Lukasik, Meghan, Pontillo, Deborah, Wilkes, James, Colaizy, Tarah T., Johnson, Karen J., Calejo, Maria, Frade Eguaras, Silvia M., Berkowits, Michelle Harwood, Hiriart-Fajardo, Sylvia, Mathews, Elaine O., Pierre, Helina, Stroerger, Alexandra, Ohls, Robin K., Lowe, Jean, Laroia, Nirupama, Myers, Gary J., Reubens, Linda J., Johnson, Julie Babish, Gelbard, Harris, Kushner, Emily, Wang, David, Salhab, Walid A., Heyne, Roy J., Allen, James, Guzman, Alicia, Hensley, Gaynelle, Hickman, Jackie F., Solis, Araceli, Torres, Lizette E., Kennedy, Kathleen A., Evans, Patricia W., Alaniz, Nora I., Harris, Beverly Foley, Jiminez, Margarita, McDavid, Georgia E., Morris, Brenda H., Reddoch, Stacy, Wright, Sharon L., Yoder, Bradley A., Baker, Shawna, Bird, Karie, Bullwinkle, Anna E., Burnett, Jill, Osborne, Karen A., Steele, R. Edison, Weaver-Lewis, Kimberlee, Peters, Nancy J., Chiu, Korinne, Goldstein, Donald J., Sood, Beena G., Johnson, Mary
Published in The Journal of pediatrics (01.01.2019)

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

by Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Schwarz, Niklas, Gandini, Maria A., Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Cousin, Margot A., Baker, Joshua, Haan, Eric, Smith, Nicholas, Davis, Erica E., Katsanis, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A., MacLennan, Alastair H., Biskup, Saskia, Rodan, Lance H., Segal, Eric, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Snell, Russell G., Lehnert, Klaus, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.
Published in American journal of human genetics (07.03.2019)

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