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

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Clinical and Genetic Heterogeneity of Inherited Autosomal Recessive Susceptibility to Disseminated Mycobacterium bovis Bacille Calmette-Guérin Infection by Elloumi-Zghal, Houda, Barbouche, Mohamed Ridha, Chemli, Jalel, Béjaoui, Mohamed, Harbi, Abdelaziz, Snoussi, Noureddine, Abdelhak, Sonia, Dellagi, Koussay

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Inherited IL-12p40 Deficiency: Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds by 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

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Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum by 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

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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum by Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, André, Zweier, Christiane

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Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype by Garber, Alison, Weingarten, Lisa S., Abreu, Nicolas J., Elloumi, Houda Zghal, Haack, Tobias, Hildebrant, Clara, Martínez‐Gil, Núria, Mathews, Jennifer, Müller, Amelie Johanna, Valenzuela Palafoll, Irene, Steigerwald, Connolly, Chung, Wendy K.

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Novel variants in the SOX11 gene: clinical description of seven new patients by 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

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Early-onset phenotype of bi-allelic GRN mutations by 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

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The commercial genetic testing landscape for Parkinson's disease by 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

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Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate by Ouadani, Hanen, Ben-Mustapha, Imen, Ben-ali, Meriem, Larguèche, Beya, Jovanic, Tihana, Garcia, Sylvie, Arcangioli, Benoit, Elloumi-Zghal, Houda, Fathallah, Dahmani, Hachicha, Mongia, Masmoudi, Hatem, Rougeon, François, Barbouche, Mohamed-Ridha

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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants by 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.

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Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome by 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.

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A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients by Ben-Mustapha, Imen, Ben-Ali, Meriem, Mekki, Najla, Patin, Etienne, Harmant, Christine, Bouguila, Jihène, Elloumi-Zghal, Houda, Harbi, Abdelaziz, Béjaoui, Mohamed, Boughammoura, Lamia, Chemli, Jalel, Barbouche, Mohamed-Ridha

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Complex regulation of human cathelicidin gene expression: novel splice variants and 5'UTR negative regulatory element by Elloumi, Houda Zghal, Holland, Steven M

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

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Lack of association between the angiotensin-converting enzyme gene (I/D) polymorphism and diabetic nephropathy in Tunisian type 2 diabetic patients by Arfa, Imen, Abid, Abdelmajid, Nouira, Sonia, Elloumi-Zghal, Houda, Malouche, Dhafer, Mannai, Imen, Zorgati, Mohamed Majdi, Ben Alaya, Nissaf, Rebai, Ahmed, Zouari, Béchir, Ben Ammar, Slim, Ben Rayana, Mohamed Chiheb, Hmida, Slama, Blousa-Chabchoub, Samira, Abdelhak, Sonia

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