Topographical and Temporal Diversity of the Human Skin Microbiome
Grice, Elizabeth A, Kong, Heidi H, Conlan, Sean, Deming, Clayton B, Davis, Joie, Young, Alice C, Bouffard, Gerard G, Blakesley, Robert W, Murray, Patrick R, Green, Eric D, Turner, Maria L, Segre, Julia A
Published in Science (American Association for the Advancement of Science) (29.05.2009)
Published in Science (American Association for the Advancement of Science) (29.05.2009)
Get full text
Journal Article
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
Woellner, Cristina, MSc, Gertz, E. Michael, PhD, Schäffer, Alejandro A., PhD, Lagos, Macarena, MD, Perro, Mario, MSc, Glocker, Erik-Oliver, MD, Pietrogrande, Maria C., MD, Cossu, Fausto, MD, Franco, José L., MD, PhD, Matamoros, Nuria, MD, Pietrucha, Barbara, MD, PhD, Heropolitańska-Pliszka, Edyta, MD, Yeganeh, Mehdi, MD, Moin, Mostafa, MD, Español, Teresa, MD, PhD, Ehl, Stephan, MD, Gennery, Andrew R., MD, Abinun, Mario, MD, PhD, Bręborowicz, Anna, MD, Niehues, Tim, MD, Kilic, Sara Sebnem, MD, Junker, Anne, MD, Turvey, Stuart E., MD, PhD, Plebani, Alessandro, MD, Sánchez, Berta, PhD, Garty, Ben-Zion, MD, Pignata, Claudio, MD, Cancrini, Caterina, MD, Litzman, Jiri, MD, Sanal, Özden, MD, Baumann, Ulrich, MD, Bacchetta, Rosa, MD, Hsu, Amy P., BA, Davis, Joie N., CRNP, Hammarström, Lennart, MD, Davies, E. Graham, MD, Eren, Efrem, MD, Arkwright, Peter D., MD, PhD, Moilanen, Jukka S., MD, PhD, Viemann, Dorothee, MD, Khan, Sujoy, MRCP, Maródi, László, MD, Cant, Andrew J., MD, Freeman, Alexandra F., MD, Puck, Jennifer M., MD, Holland, Steven M., MD, Grimbacher, Bodo, MD
Published in Journal of allergy and clinical immunology (01.02.2010)
Published in Journal of allergy and clinical immunology (01.02.2010)
Get full text
Journal Article
Comprehensive RNAi-based screening of human and mouse TLR pathways identifies species-specific preferences in signaling protein use
Sun, Jing, Li, Ning, Oh, Kyu-Seon, Dutta, Bhaskar, Vayttaden, Sharat J, Lin, Bin, Ebert, Thomas S, De Nardo, Dominic, Davis, Joie, Bagirzadeh, Rustam, Lounsbury, Nicolas W, Pasare, Chandrashekhar, Latz, Eicke, Hornung, Veit, Fraser, Iain D C
Published in Science signaling (05.01.2016)
Published in Science signaling (05.01.2016)
Get more information
Journal Article
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M.J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian
Published in Genetics in medicine (01.06.2016)
Published in Genetics in medicine (01.06.2016)
Get full text
Journal Article
Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD -related activated PI3K delta syndrome
Orellana, Halyn, Yan, Jia, Paul, Alex, Tokita, Mari, Ding, Yan, Ghosh, Rajarshi, Lewis, Katie L, Davis, Joie, Jamal, Leila, Jodarski, Colleen, Similuk, Morgan, Saucier, Nermina, Zhu, Zhanyang, Wang, Yihe, Wu, Sitao, Ruggieri, Jason, Su, Helen C, Uzel, Gulbu, Nahas, Shareef, Cooper, Megan, Walkiewicz, Magdalena A
Published in Frontiers in immunology (26.08.2024)
Published in Frontiers in immunology (26.08.2024)
Get full text
Journal Article
Causes of death in hyper-IgE syndrome
Freeman, Alexandra F., MD, Kleiner, David E., MD, Nadiminti, Hari, MD, Davis, Joie, APRN, APNG, Quezado, Martha, MD, Anderson, Victoria, MSN, CRNP, Puck, Jennifer M., MD, Holland, Steven M., MD
Published in Journal of allergy and clinical immunology (01.05.2007)
Published in Journal of allergy and clinical immunology (01.05.2007)
Get full text
Journal Article
Immunogenetics associated with severe coccidioidomycosis
Hsu, Amy P, Korzeniowska, Agnieszka, Aguilar, Cynthia C, Gu, Jingwen, Karlins, Eric, Oler, Andrew J, Chen, Gang, Reynoso, Glennys V, Davis, Joie, Chaput, Alexandria, Peng, Tao, Sun, Ling, Lack, Justin B, Bays, Derek J, Stewart, Ethan R, Waldman, Sarah E, Powell, Daniel A, Donovan, Fariba M, Desai, Jigar V, Pouladi, Nima, Long Priel, Debra A, Yamanaka, Daisuke, Rosenzweig, Sergio D, Niemela, Julie E, Stoddard, Jennifer, Freeman, Alexandra F, Zerbe, Christa S, Kuhns, Douglas B, Lussier, Yves A, Olivier, Kenneth N, Boucher, Richard C, Hickman, Heather D, Frelinger, Jeffrey, Fierer, Joshua, Shubitz, Lisa F, Leto, Thomas L, Thompson, 3rd, George R, Galgiani, John N, Lionakis, Michail S, Holland, Steven M
Published in JCI insight (22.11.2022)
Published in JCI insight (22.11.2022)
Get full text
Journal Article
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism
Hsu, Amy P., BA, Sowerwine, Kathryn J., MD, Lawrence, Monica G., MD, Davis, Joie, APRN, APNG, Henderson, Carolyn J., BA, Zarember, Kol A., PhD, Garofalo, Mary, RN, BSN, Gallin, John I., MD, Kuhns, Douglas B., PhD, Heller, Theo, MD, Milner, Joshua D., MD, Puck, Jennifer M., MD, Freeman, Alexandra F., MD, Holland, Steven M., MD
Published in Journal of allergy and clinical immunology (01.06.2013)
Published in Journal of allergy and clinical immunology (01.06.2013)
Get full text
Journal Article
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
Lenardo, Michael J, Chun, Hyung J, Zheng, Lixin, Ahmad, Manzoor, Wang, Jin, Speirs, Christina K, Siegel, Richard M, Dale, Janet K, Puck, Jennifer, Davis, Joie, Hall, Craig G, Skoda-Smith, Suzanne, Atkinson, T. Prescott, Straus, Stephen E
Published in Nature (London) (26.09.2002)
Published in Nature (London) (26.09.2002)
Get full text
Journal Article
Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome
Caminha, Iusta, MD, Fleisher, Thomas A., MD, Hornung, Ronald L., PhD, Dale, Janet K., RN, MPH, Niemela, Julie E., MLS (ASCP), Price, Susan, RN, Davis, Joie, CRNP, Perkins, Katie, CRNP, Dowdell, Kennichi C., PhD, Brown, Margaret R., MLS (ASCP), Rao, V. Koneti, MD, Oliveira, João Bosco, MD, PhD
Published in Journal of allergy and clinical immunology (01.04.2010)
Published in Journal of allergy and clinical immunology (01.04.2010)
Get full text
Journal Article
Coronary Artery Abnormalities in Hyper-IgE Syndrome
Freeman, Alexandra F., Avila, Elizabeth Mannino, Shaw, Pamela A., Davis, Joie, Hsu, Amy P., Welch, Pamela, Matta, Jatin R., Hadigan, Colleen, Pettigrew, Roderic I., Holland, Steven M., Gharib, Ahmed M.
Published in Journal of clinical immunology (01.06.2011)
Published in Journal of clinical immunology (01.06.2011)
Get full text
Journal Article
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance
Hsu, Amy P., Dowdell, Kennichi C., Davis, Joie, Niemela, Julie E., Anderson, Stacie M., Shaw, Pamela A., Rao, V. Koneti, Puck, Jennifer M.
Published in Genetics in medicine (2012)
Published in Genetics in medicine (2012)
Get full text
Journal Article
Prompt Diagnosis of Autosomal Dominant Hyper IgE Syndrome Leads to Reduced Infection and Improved Clinical Phenotype
Williams, Kelli W., MD, MPH, McGowan, Katherine, BS, Sowerwine, Kathryn J., MD, Davis, Joie, PNP, Holland, Steven M., MD, Freeman, Alexandra F., MD
Published in Journal of allergy and clinical immunology (01.02.2015)
Published in Journal of allergy and clinical immunology (01.02.2015)
Get full text
Journal Article
West Nile virus encephalitis in GATA2 deficiency
Rosa, Jaime S, Kappagoda, Shanthi, Hsu, Amy P, Davis, Joie, Holland, Steven M, Liu, Anne Y
Published in Allergy, asthma, and clinical immunology (24.01.2019)
Published in Allergy, asthma, and clinical immunology (24.01.2019)
Get full text
Journal Article
In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation
Hansford, Jordan R, Pal, Manika, Poplawski, Nicola, Haan, Eric, Boog, Bernadette, Ferrante, Antonio, Davis, Joie, Niemela, Julie E, Rao, V Koneti, Suppiah, Ram
Published in Haematologica (Roma) (01.04.2013)
Published in Haematologica (Roma) (01.04.2013)
Get full text
Journal Article
Stickler syndrome: Clinical characteristics and diagnostic criteria
Rose, Peter S., Levy, Howard P., Liberfarb, Ruth M., Davis, Joie, Szymko-Bennett, Y., Rubin, Benjamin I., Tsilou, Ekaterini, Griffith, Andrew J., Francomano, Clair A.
Published in American journal of medical genetics. Part A (15.10.2005)
Published in American journal of medical genetics. Part A (15.10.2005)
Get full text
Journal Article
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience
Gall, Timothy, Valkanas, Elise, Bello, Christofer, Markello, Thomas, Adams, Christopher, Bone, William P, Brandt, Alexander J, Brazill, Jennifer M, Carmichael, Lynn, Davids, Mariska, Davis, Joie, Diaz-Perez, Zoraida, Draper, David, Elson, Jeremy, Flynn, Elise D, Godfrey, Rena, Groden, Catherine, Hsieh, Cheng-Kang, Fischer, Roxanne, Golas, Gretchen A, Guzman, Jessica, Huang, Yan, Kane, Megan S, Lee, Elizabeth, Li, Chong, Links, Amanda E, Maduro, Valerie, Malicdan, May Christine V, Malik, Fayeza S, Nehrebecky, Michele, Park, Joun, Pemberton, Paul, Schaffer, Katherine, Simeonov, Dimitre, Sincan, Murat, Smedley, Damian, Valivullah, Zaheer, Wahl, Colleen, Washington, Nicole, Wolfe, Lynne A, Xu, Karen, Zhu, Yi, Gahl, William A, Tifft, Cynthia J, Toro, Camillo, Adams, David R, He, Miao, Robinson, Peter N, Haendel, Melissa A, Zhai, R Grace, Boerkoel, Cornelius F
Published in Frontiers in medicine (26.05.2017)
Published in Frontiers in medicine (26.05.2017)
Get full text
Journal Article
Thoracolumbar spinal abnormalities in Stickler syndrome
Rose, P S, Ahn, N U, Levy, H P, Ahn, U M, Davis, J, Liberfarb, R M, Nallamshetty, L, Sponseller, P D, Francomano, C A
Published in Spine (Philadelphia, Pa. 1976) (15.02.2001)
Published in Spine (Philadelphia, Pa. 1976) (15.02.2001)
Get more information
Journal Article
Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein
Ho, Nicola, Punturieri, Antonello, Wilkin, Douglas, Szabo, Jinny, Johnson, Maureen, Whaley, Justine, Davis, Joie, Clark, Alison, Weiss, Stephen, Francomano, Clair
Published in Journal of bone and mineral research (01.10.1999)
Published in Journal of bone and mineral research (01.10.1999)
Get full text
Journal Article