Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies
Kuehn, Hye Sun, Niemela, Julie E., Stoddard, Jennifer, Mannurita, Sara Ciullini, Shahin, Tala, Goel, Shubham, Hintermeyer, Mary, Heredia, Raul Jimenez, Garofalo, Mary, Lucas, Laura, Singh, Smriti, Tondo, Annalisa, Jacobs, Zachary, Gahl, William A., Latour, Sylvain, Verbsky, James, Routes, John, Cunningham-Rundles, Charlotte, Boztug, Kaan, Gambineri, Eleonora, Fleisher, Thomas A., Chandrakasan, Shanmuganathan, Rosenzweig, Sergio D.
Published in Blood (21.01.2021)
Published in Blood (21.01.2021)
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Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
Nunes-Santos, Cristiane J., Kuehn, HyeSun, Boast, Brigette, Hwang, SuJin, Kuhns, Douglas B., Stoddard, Jennifer, Niemela, Julie E., Fink, Danielle L., Pittaluga, Stefania, Abu-Asab, Mones, Davies, John S., Barr, Valarie A., Kawai, Tomoki, Delmonte, Ottavia M., Bosticardo, Marita, Garofalo, Mary, Carneiro-Sampaio, Magda, Somech, Raz, Gharagozlou, Mohammad, Parvaneh, Nima, Samelson, Lawrence E., Fleisher, Thomas A., Puel, Anne, Notarangelo, Luigi D., Boisson, Bertrand, Casanova, Jean-Laurent, Derfalvi, Beata, Rosenzweig, Sergio D.
Published in Nature communications (22.06.2023)
Published in Nature communications (22.06.2023)
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TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome
Myles, Ian A, Anderson, Erik D, Earland, Noah J, Zarember, Kol A, Sastalla, Inka, Williams, Kelli W, Gough, Portia, Moore, Ian N, Ganesan, Sundar, Fowler, Cedar J, Laurence, Arian, Garofalo, Mary, Kuhns, Douglas B, Kieh, Mark D, Saleem, Arhum, Welch, Pamela A, Darnell, Dirk A, Gallin, John I, Freeman, Alexandra F, Holland, Steven M, Datta, Sandip K
Published in The Journal of clinical investigation (01.08.2018)
Published in The Journal of clinical investigation (01.08.2018)
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Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis
Hartman, Heather N., Niemela, Julie, Hintermeyer, Mary K., Garofalo, Mary, Stoddard, Jennifer, Verbsky, James W., Rosenzweig, Sergio D., Routes, John M.
Published in Journal of clinical immunology (01.01.2015)
Published in Journal of clinical immunology (01.01.2015)
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Florence Nightingale (1820–1910): Feminism and Hospital Reform
Garofalo, Mary E., Fee, Elizabeth
Published in American journal of public health (1971) (01.09.2010)
Published in American journal of public health (1971) (01.09.2010)
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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)
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The Use of Radiolabelled 18-F-2-Deoxy-2-Fluro-Glucose (18-FDG) in Combined Positron Emission Tomography-Computed Tomography (PET-CT) to Evaluate Infection: Lessons Learned from a Case Series of 23 Patients with Chronic Granulomatous Disease (CGD)
Rudman Spergel, Amanda K., MD, Chen, Clara C., MD, Beegle, Cheryl Ann, JD, CRA, Littel, Patricia, RN, BSN, Garofalo, Mary, RN, BSN, Anaya-O'Brien, Sandra, RN, MSN, Marquesen, Martha, CRNP, Bagci, Ulas, PhD, Mollura, Daniel J., MD, Gallin, John I., MD, Malech, Harry L., MD
Published in Journal of allergy and clinical immunology (01.02.2015)
Published in Journal of allergy and clinical immunology (01.02.2015)
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AMD3100 is a potent antagonist at CXCR4R334X, a hyperfunctional mutant chemokine receptor and cause of WHIM syndrome
McDermott, David H., Lopez, Joseph, Deng, Francis, Liu, Qian, Ojode, Teresa, Chen, Haoqian, Ulrick, Jean, Kwatemaa, Nana, Kelly, Corin, Anaya‐O’Brien, Sandra, Garofalo, Mary, Marquesen, Martha, Hilligoss, Dianne, DeCastro, Rosamma, Malech, Harry L., Murphy, Philip M.
Published in Journal of cellular and molecular medicine (01.10.2011)
Published in Journal of cellular and molecular medicine (01.10.2011)
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CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease
De Ravin, Suk See, Li, Linhong, Wu, Xiaolin, Choi, Uimook, Allen, Cornell, Koontz, Sherry, Lee, Janet, Theobald-Whiting, Narda, Chu, Jessica, Garofalo, Mary, Sweeney, Colin, Kardava, Lela, Moir, Susan, Viley, Angelia, Natarajan, Pachai, Su, Ling, Kuhns, Douglas, Zarember, Kol A, Peshwa, Madhusudan V, Malech, Harry L
Published in Science translational medicine (11.01.2017)
Published in Science translational medicine (11.01.2017)
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Faculty Development: Mission and Methods for Practical Integration
Garofalo, Linda, Nourse, Danute M, Garofalo, Mary
Published in Journal of Catholic higher education (2021)
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Published in Journal of Catholic higher education (2021)
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Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype
Kuehn, Hye Sun, Niemela, Julie E., Sreedhara, Karthik, Stoddard, Jennifer L., Grossman, Jennifer, Wysocki, Christian A., de la Morena, M.Teresa, Garofalo, Mary, Inlora, Jingga, Snyder, Michael P., Lewis, David B., Stratakis, Constantine A., Fleisher, Thomas A., Rosenzweig, Sergio D.
Published in Blood (28.09.2017)
Published in Blood (28.09.2017)
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T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients
Kuehn, Hye Sun, Chang, Jingjie, Yamashita, Motoi, Niemela, Julie E, Zou, Chengcheng, Okuyama, Kazuki, Harada, Junji, Stoddard, Jennifer L, Nunes-Santos, Cristiane J, Boast, Brigette, Baxter, Ryan M, Hsieh, Elena W Y, Garofalo, Mary, Fleisher, Thomas A, Morio, Tomohiro, Taniuchi, Ichiro, Dutmer, Cullen M, Rosenzweig, Sergio D
Published in The Journal of experimental medicine (06.12.2021)
Published in The Journal of experimental medicine (06.12.2021)
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Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections
Sadat, Mohammed A, Moir, Susan, Chun, Tae-Wook, Lusso, Paolo, Kaplan, Gerardo, Wolfe, Lynne, Memoli, Matthew J, He, Miao, Vega, Hugo, Kim, Leo J.Y, Huang, Yan, Hussein, Nadia, Nievas, Elma, Mitchell, Raquel, Garofalo, Mary, Louie, Aaron, Ireland, Derek C, Grunes, Claire, Cimbro, Raffaello, Patel, Vyomesh, Holzapfel, Genevieve, Salahuddin, Daniel, Bristol, Tyler, Adams, David, Marciano, Beatriz E, Hegde, Madhuri, Li, Yuxing, Calvo, Katherine R, Stoddard, Jennifer, Justement, J. Shawn, Jacques, Jerome, Long Priel, Debra A, Murray, Danielle, Sun, Peter, Kuhns, Douglas B, Boerkoel, Cornelius F, Chiorini, John A, Di Pasquale, Giovanni, Verthelyi, Daniela, Rosenzweig, Sergio D
Published in The New England journal of medicine (24.04.2014)
Published in The New England journal of medicine (24.04.2014)
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Pulmonary Nontuberculous Mycobacterial Disease: Prospective Study of a Distinct Preexisting Syndrome
Kim, Richard D, Greenberg, David E, Ehrmantraut, Mary E, Guide, Shireen V, Ding, Li, Shea, Yvonne, Brown, Margaret R, Chernick, Milica, Steagall, Wendy K, Glasgow, Connie G, Lin, JingPing, Jolley, Clara, Sorbara, Lynn, Raffeld, Mark, Hill, Suvimol, Avila, Nilo, Sachdev, Vandana, Barnhart, Lisa A, Anderson, Victoria L, Claypool, Reginald, Hilligoss, Dianne M, Garofalo, Mary, Fitzgerald, Alan, Anaya-O'Brien, Sandra, Darnell, Dirk, DeCastro, Rosamma, Menning, Heather M, Ricklefs, Stacy M, Porcella, Stephen F, Olivier, Kenneth N, Moss, Joel, Holland, Steven M
Published in American journal of respiratory and critical care medicine (15.11.2008)
Published in American journal of respiratory and critical care medicine (15.11.2008)
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