Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy von Moreno-De-Luca, Andrés, Millan, Francisca, Pesacreta, Denis R, Elloumi, Houda Z, Oetjens, Matthew T, Teigen, Claire, Wain, Karen E, Scuffins, Julie, Myers, Scott M, Torene, Rebecca I, Gainullin, Vladimir G, Arvai, Kevin, Kirchner, H. Lester, Ledbetter, David H, Retterer, Kyle, Martin, Christa L

Volltext

Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome von Milner, Joshua D, Brenchley, Jason M, Laurence, Arian, Freeman, Alexandra F, Hill, Brenna J, Elias, Kevin M, Kanno, Yuka, Spalding, Christine, Elloumi, Houda Z, Paulson, Michelle L, Davis, Joie, Hsu, Amy, Asher, Ava I, O'Shea, John, Holland, Steven M, Paul, William E, Douek, Daniel C

Volltext

STAT3 Mutations in the Hyper-IgE Syndrome von Holland, Steven M, DeLeo, Frank R, Elloumi, Houda Z, Hsu, Amy P, Uzel, Gulbu, Brodsky, Nina, Freeman, Alexandra F, Demidowich, Andrew, Davis, Joie, Turner, Maria L, Anderson, Victoria L, Darnell, Dirk N, Welch, Pamela A, Kuhns, Douglas B, Frucht, David M, Malech, Harry L, Gallin, John I, Kobayashi, Scott D, Whitney, Adeline R, Voyich, Jovanka M, Musser, James M, Woellner, Cristina, Schäffer, Alejandro A, Puck, Jennifer M, Grimbacher, Bodo

Volltext

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia von Vinh, Donald C., Patel, Smita Y., Uzel, Gulbu, Anderson, Victoria L., Freeman, Alexandra F., Olivier, Kenneth N., Spalding, Christine, Hughes, Stephen, Pittaluga, Stefania, Raffeld, Mark, Sorbara, Lynn R., Elloumi, Houda Z., Kuhns, Douglas B., Turner, Maria L., Cowen, Edward W., Fink, Danielle, Long-Priel, Debra, Hsu, Amy P., Ding, Li, Paulson, Michelle L., Whitney, Adeline R., Sampaio, Elizabeth P., Frucht, David M., DeLeo, Frank R., Holland, Steven M.

Volltext

NFIL3 is a regulator of IL-12 p40 in macrophages and mucosal immunity von Kobayashi, Taku, Matsuoka, Katsuyoshi, Sheikh, Shehzad Z, Elloumi, Houda Z, Kamada, Nobuhiko, Hisamatsu, Tadakazu, Hansen, Jonathan J, Doty, Kevin R, Pope, Scott D, Smale, Stephen T, Hibi, Toshifumi, Rothman, Paul B, Kashiwada, Masaki, Plevy, Scott E

Volltext

Genetics and genomic medicine in Tunisia von Elloumi‐Zghal, Houda, Chaabouni Bouhamed, Habiba

Volltext

Mycobacterium abscessus and M. avium Trigger Toll-Like Receptor 2 and Distinct Cytokine Response in Human Cells von Sampaio, Elizabeth P, Elloumi, Houda Z, Zelazny, Adrian, Ding, Li, Paulson, Michelle L, Sher, Alan, Bafica, Andre L, Shea, Yvonne R, Holland, Steven M

Volltext

Genetic testing of >1300 patients with cerebral palsy reveals an etiology in one-third of cases, underscoring the need for broad genetic testing and a significant recurrence risk f... von Millan, Francisca, Elloumi, Houda, Teigen, Claire, Scuffins, Julie, Torene, Rebecca, McKnight, Dianalee

Volltext

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum von Pingault, Véronique, Neiva-Vaz, Cécilia, de Oliveira, Judite, Martínez-Gil, Núria, Lasa-Aranzasti, Amaia, Campos, Berta, Lakeman, Inge M M, Nibbeling, Esther A R, Stoeva, Radka, Jayakar, Parul, Dabir, Tabib, Elloumi, Houda Zghal, Strong, Alanna, Hanein, Sylvain, Picard, Arnaud, Ochsenbein, Francoise, Blanc, Pierre, Amiel, Jeanne

Volltext

Novel variants in the SOX11 gene: clinical description of seven new patients von Schincariol-Manhe, Beatriz, Campagnolo, Érica, Spineli-Silva, Samira, de Leeuw, Nicole, Correia-Costa, Gabriela Roldão, Pessoa, André, de Souza, Carolina Fischinger Moura, Stevens, Cathy, Javaher, Poupak, Scallet, Helena Fabbri, Mohr, Julia, Biskup, Saskia, Herkert, Johanna C., Pfundt, Rolph, Mehta, Lakshmi, Rekab, Aisha, Elloumi, Houda Zghal, Sanyoura, May, Maciel-Guerra, Andréa Trevas, Gil-da-Silva-Lopes, Vera Lúcia, dos Santos, Ana Mondadori, Vieira, Társis Paiva

Volltext

Early-onset phenotype of bi-allelic GRN mutations von Neuray, Caroline, Sultan, Tipu, Alvi, Javeira Raza, Franca, Marcondes C., Assmann, Birgit, Wagner, Matias, Canafoglia, Laura, Franceschetti, Silvana, Rossi, Giacomina, Santana, Isabel, Macario, Maria C., Almeida, Maria R., Kamate, Mahesh, Parikh, Sumit, Elloumi, Houda Zghal, Murphy, David, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry

Volltext

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein von de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske

Volltext

The commercial genetic testing landscape for Parkinson's disease von Cook, Lola, Schulze, Jeanine, Verbrugge, Jennifer, Beck, James C., Marder, Karen S., Saunders-Pullman, Rachel, Klein, Christine, Naito, Anna, Alcalay, Roy N., Brice, Alexis, Kumeh, Amasi, West, Andrew B., Singleton, Andrew, Naito, Anna, Schüle, Birgitt, Fiske, Brian, Gabbert, Carolin, Marras, Connie, Blauwendraat, Cornelis, Thaxton, Courtney, Alessi, Dario, Craig, David, Fon, Edward A., Forbes, Emily, Valente, Enza Maria, Sammler, Esther, Chao, Gill, Riboldi, Giulietta, Elloumi, Houda Zghal, Mata, Ignacio, Beck, James C., Fong, Jamie C., Corvol, Jean-Christophe, Schulze, Jeanine, Verbrugge, Jennifer, Shulman, Joshua, Peterschmitt, Judith, Marder, Karen, Lohmann, Katja, Nudelman, Kelly, Lange, Lara, Cook, Lola, Cookson, Mark R., Nance, Martha, Farrer, Matthew, Grigorian, Melina, Schwarzschild, Michael A., Mencacci, Niccolo, Ross, Owen, Mistry, Pramod, Hodges, Priscila, Blake, Rachel, Saunders-Pullman, Rachel, Alcalay, Roy N., Sardi, S. Pablo, Farhan, Sali, Strom, Samuel, Padmanabhan, Shalini, Mohan, Shruthi, Longerich, Simonne, Schneider, Susanne, Lesage, Suzanne, Bardakjian, Tanya, Foroud, Tatiana, Courtin, Thomas, Tropea, Thomas, Liu, Yunlong, Gan-Or, Ziv, Shalash, Ali S., Hall, Anne, Thaler, Avner, Sue, Carolyn M., Mascalzoni, Deborah, Raymond, Deborah, Gatto, Emilia Mabel, Pal, Gian D., König, Inke, Novakovic, Ivana, Merello, Marcelo, Salari, Mehri, Mencacci, Niccolo Emanuele, Hattori, Nobutaka, Suchowersky, Oksana, Bardien, Soraya, Chung, Sun Ju, Simuni, Tatyana, Lynch, Timothy, Bonifati, Vincenzo

Volltext

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants von Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau‐Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman‐Keemink, Yvonne, Hoffer, Mariette J. V., Lakeman, Inge M. M., Brischoux‐Boucher, Elise, Kinali, Maria, Zhao, Xiaonan, Lalani, Seema R., Scott, Daryl A.

Volltext

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome von Steele, Jacqueline L., Morrow, Michelle M., Sarnat, Harvey B., Alkhunaizi, Ebba, Brandt, Tracy, Chitayat, David A., DeFilippo, Colette P., Douglas, Ganka V., Dubbs, Holly A., Elloumi, Houda Zghal, Glassford, Megan R., Hannibal, Mark C., Héron, Bénédicte, Kim, Linda E., Marco, Elysa J., Mignot, Cyril, Monaghan, Kristin G., Myers, Kenneth A., Parikh, Sumit, Quinonez, Shane C., Rajabi, Farrah, Shankar, Suma P., Shinawi, Marwan S., van de Kamp, Jiddeke J.P., Veerapandiyan, Aravindhan, Waldman, Amy T., Graf, William D.

Volltext

Differential Cytokine Response Induced by M. Avium and M. Abscessus in Human Macrophages is Mediated Through p38 MapKinase Signalling Pathway and Partially Dependent on TLR2 Activa... von Sampaio, Elizabeth, Senior Visiting Investigator, NIAID, NIH, Bethesda, MD, Elloumi, Houda, Postdoctoral Fellow, NIH/NIAID, Bethesda, MD, Zelazny, Adrian, Staff Scientist, NIH/NIAID, Bethesda, MD, Shea, Yvonne, Laboratory Supervisor, NIAID/NIH, Bethesda, MD, Ding, Li, Lab Manager, NIAID/NIH, Bethesda, MD, Holland, Steven, Lab Chief, NIH/NIAID, Bethesda, MD

Volltext

Complex regulation of human cathelicidin gene expression: Novel splice variants and 5′UTR negative regulatory element von Elloumi, Houda Zghal, Holland, Steven M.

Volltext

Diagnostic Assays for Chronic Granulomatous Disease and Other Neutrophil Disorders von Elloumi, Houda Zghal, Holland, Steven M.

Volltext

Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds von Prando, Carolina, Samarina, Arina, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Cobat, Aurelie, Picard, Capucine, AlSum, Zobaida, Al-Jumaah, Suliman, Al-Hajjar, Sami, Frayha, Husn, Al-Mousa, Hamoud, Ben-Mustapha, Imen, Adimi, Parisa, Feinberg, Jacqueline, de Suremain, Maylis, Jannière, Lucile, Filipe-Santos, Orchidée, Mansouri, Nahal, Stephan, Jean-Louis, Nallusamy, Revathy, Kumararatne, Dinakantha S., Bloorsaz, Mohamad Reza, Ben-Ali, Meriem, Elloumi-Zghal, Houda, Chemli, Jalel, Bouguila, Jihene, Bejaoui, Mohamed, Alaki, Emadia, AlFawaz, Tariq S., Al Idrissi, Eman, ElGhazali, Gehad, Pollard, Andrew J., Murugasu, Belinda, Wah Lee, Bee, Halwani, Rabih, Al-Zahrani, Mohammed, Al Shehri, Mohammed A., Al-Zahrani, Mofareh, Bin-Hussain, Ibrahim, Mahdaviani, Seyed Alireza, Parvaneh, Nima, Abel, Laurent, Mansouri, Davood, Barbouche, Ridha, Al-Muhsen, Saleh, Casanova, Jean-Laurent

Volltext

Functional deficits in IL ‐10 and Phosphatidyl Inositol‐3 Kinase (PI3K) contribute to the development of severe colitis von Uno, Jennifer K, Matsuoka, Katsuyoshi, Sheikh, Shehzad Z, Elloumi, Houda, Li, Fengling, Plevy, Scott E.

Volltext