De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Por Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.
Publicado no Am J Hum Genet (2016)

De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease

Por Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K
Publicado no Hum Genet (2016)

Genotype–phenotype correlations in individuals with pathogenic RERE variants

Por Jordan, Valerie K., Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J., Balci, Tugce B., Carter, Melissa T., Bernat, John A., Moccia, Amanda N., Srivastava, Anshika, Martin, Donna M., Bielas, Stephanie L., Pappas, John, Svoboda, Melissa D., Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M., Scaglia, Fernando, Kohler, Jennefer N., Bernstein, Jonathan A., Dries, Annika M., Rosenfeld, Jill A., DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H., Bi, Weimin, Scott, Daryl A.
Publicado no Hum Mutat (2018)

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

Por Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wahl, Colleen, Tifft, Cynthia J., Toro, Camilo, Bernstein, Jonathan A., Hale, Caitlin L., Silver, Julia, Hudgins, Louanne, Ananth, Amitha, Hanson-Kahn, Andrea, Shuster, Shirley, Magoulas, Pilar L., Patel, Vipulkumar N., Zhu, Wenmiao, Chen, Stella M., Jiang, Yanjun, Liu, Pengfei, Eng, Christine M., Batkovskyte, Dominyka, di Ronza, Alberto, Sardiello, Marco, Lee, Brendan H., Schaaf, Christian P., Yang, Yaping, Wang, Xia
Publicado no Am J Hum Genet (2018)

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

Por Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef
Publicado no Am J Hum Genet (2017)

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Por Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Truitt Cho, Megan, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Sukoff Rizzo, Stacey J, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng
Publicado no Hum Mol Genet (2017)

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

Por Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Publicado no Genet Med (2016)

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Por Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, Lyon, Gholson J.
Publicado no Am J Hum Genet (2018)