Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

Por Maffucci, Patrick, Filion, Charles A., Boisson, Bertrand, Itan, Yuval, Shang, Lei, Casanova, Jean-Laurent, Cunningham-Rundles, Charlotte
Publicado no Front Immunol (2016)

Interferon Signature in the Blood in Inflammatory Common Variable Immune Deficiency

Por Park, Joon, Munagala, Indira, Xu, Hui, Blankenship, Derek, Maffucci, Patrick, Chaussabel, Damien, Banchereau, Jacques, Pascual, Virginia, Cunningham-Rundles, Charlotte
Publicado em 2013

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency

Por Requena, David, Maffucci, Patrick, Bigio, Benedetta, Shang, Lei, Abhyankar, Avinash, Boisson, Bertrand, Stenson, Peter D., Cooper, David N., Cunningham-Rundles, Charlotte, Casanova, Jean-Laurent, Abel, Laurent, Itan, Yuval
Publicado no Front Immunol (2018)

Hyper IgM Syndrome: a Report from the USIDNET Registry

Por Leven, Emily A., Maffucci, Patrick, Ochs, Hans D., Scholl, Paul R., Buckley, Rebecca H., Fuleihan, Ramsay L., Geha, Raif S., Cunningham, Coleen K., Bonilla, Francisco A., Conley, Mary Ellen, Ferdman, Ronald M., Hernandez-Trujillo, Vivian, Puck, Jennifer M., Sullivan, Kathleen, Secord, Elizabeth A., Ramesh, Manish, Cunningham-Rundles, Charlotte
Publicado no J Clin Immunol (2016)