Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

Por Rider, Nicholas L., Boisson, Bertrand, Jyonouchi, Soma, Hanson, Eric P., Rosenzweig, Sergio D., Casanova, Jean-Laurent, Orange, Jordan S.
Publicado no Front Pediatr (2015)

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

Por Rider, Nicholas L., Boisson, Bertrand, Jyonouchi, Soma, Hanson, Eric P., Rosenzweig, Sergio D., Casanova, Jean-Laurent, Orange, Jordan S.
Publicado no Front Pediatr (2015)

Classical maple syrup urine disease and brain development: Principles of management and formula design

Por Strauss, Kevin A., Wardley, Bridget, Robinson, Donna, Hendrickson, Christine, Rider, Nicholas L., Puffenberger, Erik G., Shelmer, Diana, Moser, Ann B., Morton, D. Holmes
Publicado em 2010

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

Por Lohr, Naomi J., Molleston, Jean P., Strauss, Kevin A., Torres-Martinez, Wilfredo, Sherman, Eric A., Squires, Robert H., Rider, Nicholas L., Chikwava, Kudakwashe R., Cummings, Oscar W., Morton, D. Holmes, Puffenberger, Erik G.
Publicado em 2010

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia

Por de la Fuente, Miguel A., Recher, Mike, Rider, Nicholas L., Strauss, Kevin A., Morton, D. Holmes, Adair, Margaret, Bonilla, Francisco A., Ochs, Hans D., Gelfand, Erwin W., Pessach, Itai M., Walter, Jolan E., King, Alejandra, Giliani, Silvia, Pai, Sung-Yun, Notarangelo, Luigi D.
Publicado no J Allergy Clin Immunol (2011)

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Por Ng, Joanne, Zhen, Juan, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian, Rider, Nicholas L., Holmes Morton, D., Strauss, Kevin A., Puffenberger, Erik G., D’Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo, Borck, Guntram, Reith, Maarten E. A., Kurian, Manju A.
Publicado em 2014

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Por Puffenberger, Erik G., Jinks, Robert N., Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A., Achilly, Nathan P., Cassidy, Ryan P., Fiorentini, Christopher J., Heiken, Kory F., Lawrence, Johnny J., Mahoney, Molly H., Miller, Christopher J., Nair, Devika T., Politi, Kristin A., Worcester, Kimberly N., Setton, Roni A., DiPiazza, Rosa, Sherman, Eric A., Eastman, James T., Francklyn, Christopher, Robey-Bond, Susan, Rider, Nicholas L., Gabriel, Stacey, Morton, D. Holmes, Strauss, Kevin A.
Publicado em 2012

Primary immunodeficiency diseases – genomic approaches delineate heterogeneous Mendelian disorders

Por Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K., Akdemir, Zeynep H. Coban, Erichsen, Hans Christian, Forbes, Lisa R., Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Muzny, Donna M., Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K., Noroski, Lenora M., Seeborg, Filiz O., Davis, Carla, Canter, Debra, Mace, Emily M., Vece, Tim, Allen, Carl E., Abhyankar, Harshal A., Boone, Phil, Beck, Christine R., Wiszniewski, Wojciech Krysztof, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F., Abrahamsen, Tore G., Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv T., Kulseth, Mari Ann, Prescott, Trine E., Rustad, Cecilie F., Heimdal, Ketil R., Belmont, John W., Rider, Nicholas, Chinen, Javier, Cao, Tram, Smith, Eric, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J. Espinosa, Guerrero, Denisse, Pedroza, Luis Alberto, Poli, Cecilia M., Franco, Jose L., Vargas, Claudia M. Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B., Issekutz, Andrew C., Abbott, Jordan, Caldwell, Jason W., Bayer, Diana K., Chan, Alice Y., Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gozde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K., Ehlayel, Mohammad S., Jolles, Stephen, Flatø, Berit, Bertuch, Alison A., Hanson, I. Celine, Zhang, Victor W., Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine, Boerwinkle, Eric, Gibbs, Richard A., Shearer, William T., Lyle, Robert, Orange, Jordan S., Lupski, James R.
Publicado no J Allergy Clin Immunol (2016)