Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

por Su, Meng, Benke, Paul J., Bademci, Guney, Cengiz, Filiz Basak, Ouyang, Xiaomei, Peng, Jinghong, Casas, Carmen E., Tekin, Mustafa, Fan, Yao-Shan
Publicado 2018

Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

por Collins, Stephen C., Coffee, Brad, Benke, Paul J., Berry-Kravis, Elizabeth, Gilbert, Fred, Oostra, Ben, Halley, Dicky, Zwick, Michael E., Cutler, David J., Warren, Stephen T.
Publicado 2010

Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds

por Yang, Jie, Wang, Shih-Kai, Choi, Murim, Reid, Bryan M, Hu, Yuanyuan, Lee, Yuan-Ling, Herzog, Curtis R, Kim-Berman, Hera, Lee, Moses, Benke, Paul J, Kent Lloyd, K C, Simmer, James P, Hu, Jan C-C
Publicado 2015

Analyses of oligodontia phenotypes and genetic etiologies

por Zhou, Mengqi, Zhang, Hong, Camhi, Heather, Seymen, Figen, Koruyucu, Mine, Kasimoglu, Yelda, Kim, Jung-Wook, Kim-Berman, Hera, Yuson, Ninna M. R., Benke, Paul J., Wu, Yiqun, Wang, Feng, Zhu, Yaqin, Simmer, James P., Hu, Jan C-C.
Publicado 2021

Correction: Analyses of oligodontia phenotypes and genetic etiologies

por Zhou, Mengqi, Zhang, Hong, Camhi, Heather, Seymen, Figen, Koruyucu, Mine, Kasimoglu, Yelda, Kim, Jung-Wook, Kim-Berman, Hera, Yuson, Ninna M. R., Benke, Paul J., Wu, Yiqun, Wang, Feng, Zhu, Yaqin, Simmer, James P., Hu, Jan C-C.
Publicado 2021

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

por Ravenscroft, Thomas A., Phillips, Jennifer B., Fieg, Elizabeth, Bajikar, Sameer S., Peirce, Judy, Wegner, Jeremy, Luna, Alia A., Fox, Eric J., Yan, Yi-Lin, Rosenfeld, Jill A., Zirin, Jonathan, Kanca, Oguz, Benke, Paul J., Cameron, Eric S., Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine S.C., Lincoln, Sharyn, Stoler, Joan M., Postlethwait, John H., Wangler, Michael F., Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, Bellen, Hugo J.
Publicado 2021

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

por Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.
Publicado 2021

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

por Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor
Publicado 2021