Genomic and functional analysis of the sodium-dependent vitamin C transporter SLC23A1–SVCT1

gan Eck, Peter, Erichsen, Hans Christian, Taylor, James G., Corpe, Christopher, Chanock, Stephen J., Levine, Mark
Cyhoeddwyd 2007

Genetic Variation in Sodium-Dependent Vitamin C Transporters SLC23A1 and SLC23A2 and Risk of Advanced Colorectal Adenoma

gan Erichsen, Hans Christian, Peters, Ulrike, Eck, Peter, Welch, Robert, Schoen, Robert E., Yeager, Meredith, Levine, Mark, Hayes, Richard B., Chanock, Stephen
Cyhoeddwyd 2008

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

gan Tesi, Bianca, Lagerstedt-Robinson, Kristina, Chiang, Samuel C. C., Bdira, Eya Ben, Abboud, Miguel, Belen, Burcu, Devecioglu, Omer, Fadoo, Zehra, Yeoh, Allen E. J., Erichsen, Hans Christian, Möttönen, Merja, Akar, Himmet Haluk, Hästbacka, Johanna, Kaya, Zuhre, Nunes, Susana, Patiroglu, Turkan, Sabel, Magnus, Saribeyoglu, Ebru Tugrul, Tvedt, Tor Henrik, Unal, Ekrem, Unal, Sule, Unuvar, Aysegul, Meeths, Marie, Henter, Jan-Inge, Nordenskjöld, Magnus, Bryceson, Yenan T.
Cyhoeddwyd yn Genome Med (2015)

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

gan Strand, Janne, Gul, Kiran Aftab, Erichsen, Hans Christian, Lundman, Emma, Berge, Mona C., Trømborg, Anette K., Sørgjerd, Linda K., Ytre-Arne, Mari, Hogner, Silje, Halsne, Ruth, Gaup, Hege Junita, Osnes, Liv T., Kro, Grete A. B., Sorte, Hanne S., Mørkrid, Lars, Rowe, Alexander D., Tangeraas, Trine, Jørgensen, Jens V., Alme, Charlotte, Bjørndalen, Trude E. H., Rønnestad, Arild E., Lang, Astri M., Rootwelt, Terje, Buechner, Jochen, Øverland, Torstein, Abrahamsen, Tore G., Pettersen, Rolf D., Stray-Pedersen, Asbjørg
Cyhoeddwyd yn Front Immunol (2020)

Thymus transplantation for complete DiGeorge syndrome: European experience

gan Davies, E. Graham, Cheung, Melissa, Gilmour, Kimberly, Maimaris, Jesmeen, Curry, Joe, Furmanski, Anna, Sebire, Neil, Halliday, Neil, Mengrelis, Konstantinos, Adams, Stuart, Bernatoniene, Jolanta, Bremner, Ronald, Browning, Michael, Devlin, Blythe, Erichsen, Hans Christian, Gaspar, H. Bobby, Hutchison, Lizzie, Ip, Winnie, Ifversen, Marianne, Leahy, T. Ronan, McCarthy, Elizabeth, Moshous, Despina, Neuling, Kim, Pac, Malgorzata, Papadopol, Alina, Parsley, Kathryn L., Poliani, Luigi, Ricciardelli, Ida, Sansom, David M., Voor, Tiia, Worth, Austen, Crompton, Tessa, Markert, M. Louise, Thrasher, Adrian J.
Cyhoeddwyd yn J Allergy Clin Immunol (2017)

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

gan Stray-Pedersen, Asbjørg, Backe, Paul H., Sorte, Hanne S., Mørkrid, Lars, Chokshi, Niti Y., Erichsen, Hans Christian, Gambin, Tomasz, Elgstøen, Katja B.P., Bjørås, Magnar, Wlodarski, Marcin W., Krüger, Marcus, Jhangiani, Shalini N., Muzny, Donna M., Patel, Ankita, Raymond, Kimiyo M., Sasa, Ghadir S., Krance, Robert A., Martinez, Caridad A., Abraham, Shirley M., Speckmann, Carsten, Ehl, Stephan, Hall, Patricia, Forbes, Lisa R., Merckoll, Else, Westvik, Jostein, Nishimura, Gen, Rustad, Cecilie F., Abrahamsen, Tore G., Rønnestad, Arild, Osnes, Liv T., Egeland, Torstein, Rødningen, Olaug K., Beck, Christine R., Boerwinkle, Eric A., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Lausch, Ekkehart, Hanson, I. Celine
Cyhoeddwyd 2014

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

gan Volpi, Stefano, Cicalese, Maria Pia, Tuijnenburg, Paul, Tool, Anton T. J., Cuadrado, Eloy, Abu-Halaweh, Marwan, Ahanchian, Hamid, Alzyoud, Raed, Akdemir, Zeynep Coban, Barzaghi, Federica, Blank, Alexander, Boisson, Bertrand, Bottino, Cristina, Brigida, Immacolata, Caorsi, Roberta, Casanova, Jean-Laurent, Chiesa, Sabrina, Chinn, Ivan Kingyue, Dückers, Gregor, Enders, Anselm, Erichsen, Hans Christian, Forbes, Lisa R., Gambin, Tomasz, Gattorno, Marco, Karimiani, Ehsan Ghayoor, Giliani, Silvia, Gold, Michael S., Jacobsen, Eva-Maria, Jansen, Machiel H., King, Jovanka R., Laxer, Ronald M., Lupski, James R., Mace, Emily, Marcenaro, Stefania, Maroofian, Reza, Meijer, Alexander B., Niehues, Tim, Notarangelo, Luigi D., Orange, Jordan, Pannicke, Ulrich, Pearson, Chris, Picco, Paolo, Quinn, Patrick J., Schulz, Ansgar, Seeborg, Filiz, Stray-Pedersen, Asbjørg, Tawamie, Hasan, van Leeuwen, Ester M. M., Aiuti, Alessandro, Yeung, Rae, Schwarz, Klaus, Kuijpers, Taco W.
Cyhoeddwyd yn J Allergy Clin Immunol (2019)

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

gan Lam, Michael T., Coppola, Simona, Krumbach, Oliver H.F., Prencipe, Giusi, Insalaco, Antonella, Cifaldi, Cristina, Brigida, Immacolata, Zara, Erika, Scala, Serena, Di Cesare, Silvia, Martinelli, Simone, Di Rocco, Martina, Pascarella, Antonia, Niceta, Marcello, Pantaleoni, Francesca, Ciolfi, Andrea, Netter, Petra, Carisey, Alexandre F., Diehl, Michael, Akbarzadeh, Mohammad, Conti, Francesca, Merli, Pietro, Pastore, Anna, Levi Mortera, Stefano, Camerini, Serena, Farina, Luciapia, Buchholzer, Marcel, Pannone, Luca, Cao, Tram N., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Basso-Ricci, Luca, Chiriaco, Maria, Dvorsky, Radovan, Putignani, Lorenza, Carsetti, Rita, Janning, Petra, Stray-Pedersen, Asbjorg, Erichsen, Hans Christian, Horne, AnnaCarin, Bryceson, Yenan T., Torralba-Raga, Lamberto, Ramme, Kim, Rosti, Vittorio, Bracaglia, Claudia, Messia, Virginia, Palma, Paolo, Finocchi, Andrea, Locatelli, Franco, Chinn, Ivan K., Lupski, James R., Mace, Emily M., Cancrini, Caterina, Aiuti, Alessandro, Ahmadian, Mohammad R., Orange, Jordan S., De Benedetti, Fabrizio, Tartaglia, Marco
Cyhoeddwyd yn J Exp Med (2019)

Primary immunodeficiency diseases – genomic approaches delineate heterogeneous Mendelian disorders

gan 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.
Cyhoeddwyd yn J Allergy Clin Immunol (2016)