A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature

por Chami, Hassan, Arbid, Samer Abou, Badra, Rebecca, Farra, Chantal
Publicado 2017

BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center

por Farra, Chantal, Dagher, Christelle, Hamadeh, Lama, El Saghir, Nagi, Mukherji, Deborah
Publicado 2019

Abdominal Wall Desmoid during Pregnancy: Diagnostic Challenges

por Awwad, Johnny, Hammoud, Nadine, Farra, Chantal, Fares, Farah, Abi Saad, George, Ghazeeri, Ghina
Publicado 2013

An unusual case of chronic lymphocytic leukemia with trisomy 12 and t(14;18) and a favorable response to ibrutinib

por Haddad, Fady Gh, Chebly, Alain, El Sett, Antoine, Kourie, Hampig Raphael, Farra, Chantal
Publicado 2021

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

por Farra, Chantal, Yunis, Khaled, Yazbeck, Nadine, Majdalani, Marianne, Charafeddine, Lama, Wakim, Rima, Awwad, Johnny
Publicado 2011

Dubowitz syndrome: common findings and peculiar urine odor

por Chehade, Cynthia, Awwad, Johnny, Yazbeck, Nadine, Majdalani, Marianne, Wakim, Rima, Tfayli, Hala, Farra, Chantal
Publicado 2013

Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study

por Farra, Chantal, Daher, Rose, Badra, Rebecca, el Rafei, Rym, Bejjany, Rachelle, Charafeddine, Lama, Yunis, Khalid
Publicado 2015

Pediatric M5 acute myeloid leukemia with MLL-SEPT6 fusion and a favorable outcome

por Chebly, Alain, Djambas Khayat, Claudia, Yammine, Tony, Korban, Rima, Semaan, Warde, Bou Zeid, Jessica, Farra, Chantal
Publicado 2021

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

por Valencia, Maria, Tabet, Lara, Yazbeck, Nadine, Araj, Alia, Ruiz-Perez, Victor L., Charaffedine, Khalil, Fares, Farah, Badra, Rebecca, Farra, Chantal
Publicado 2015

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants

por Daou, Melissa, Souaid, Mirna, Yammine, Tony, Khneisser, Issam, Mansour, Hicham, Salem, Nabiha, Nemr, Antony, Awwad, Johnny, Moukarzel, Adib, Farra, Chantal
Publicado 2023

A rare case of acute myeloid leukemia with t(12;19)(q13;q13)

por Chebly, Alain, Haddad, Fady Gh, Bassil, Josiane, Yammine, Tony, Korban, Rima, Semaan, Warde, El Karak, Fady, Kourie, Hampig Raphael, Farra, Chantal
Publicado 2020

Telomeric Repeat-Containing RNA (TERRA): A Review of the Literature and First Assessment in Cutaneous T-Cell Lymphomas

por Chebly, Alain, Ropio, Joana, Baldasseroni, Lyla, Prochazkova-Carlotti, Martina, Idrissi, Yamina, Ferrer, Jacky, Farra, Chantal, Beylot-Barry, Marie, Merlio, Jean-Philippe, Chevret, Edith
Publicado 2022

BRCA mutation screening and patterns among high-risk Lebanese subjects

por Farra, Chantal, Dagher, Christelle, Badra, Rebecca, Hammoud, Miza Salim, Alameddine, Raafat, Awwad, Johnny, Seoud, Muhieddine, Abbas, Jaber, Boulos, Fouad, El Saghir, Nagi, Mukherji, Deborah
Publicado 2019

Targeting Epigenetic Modifiers Can Reduce the Clonogenic Capacities of Sézary Cells

por Chebly, Alain, Prochazkova-Carlotti, Martina, Idrissi, Yamina, Bresson-Bepoldin, Laurence, Poglio, Sandrine, Farra, Chantal, Beylot-Barry, Marie, Merlio, Jean-Philippe, Tomb, Roland, Chevret, Edith
Publicado 2021

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR

por Trujillano, Daniel, Weiss, Maximilian E R, Köster, Julia, Papachristos, Efstathios B, Werber, Martin, Kandaswamy, Krishna Kumar, Marais, Anett, Eichler, Sabrina, Creed, Jenny, Baysal, Erol, Jaber, Iqbal Yousuf, Mehaney, Dina Ahmed, Farra, Chantal, Rolfs, Arndt
Publicado 2015

Exploring hTERT promoter methylation in cutaneous T‐cell lymphomas

por Chebly, Alain, Ropio, Joana, Peloponese, Jean‐Marie, Poglio, Sandrine, Prochazkova‐Carlotti, Martina, Cherrier, Floriane, Ferrer, Jacky, Idrissi, Yamina, Segal‐Bendirdjian, Evelyne, Chouery, Eliane, Farra, Chantal, Pham‐Ledard, Anne, Beylot‐Barry, Marie, Merlio, Jean‐Philippe, Tomb, Roland, Chevret, Edith
Publicado 2021

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

por Dafsari, Hormos Salimi, Pemberton, Joshua G., Ferrer, Elizabeth A., Yammine, Tony, Farra, Chantal, Mohammadi, Mohammad Hasan, Ghayoor Karimiani, Ehsan, Hashemi, Narges, Souaid, Mirna, Sabbagh, Sandra, Najarzadeh Torbati, Paria, Khan, Suliman, Roze, Emmanuel, Moreno‐De‐Luca, Andres, Bertoli‐Avella, Aida M., Houlden, Henry, Balla, Tamas, Maroofian, Reza
Publicado 2022

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

por Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmaña, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Blümcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Åke, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesús, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana M., Ehrencrona, Hans, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique C.R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne‐Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Gómez Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri‐Gonzaga, Aliana, Guillaud‐Bataille, Marine, Gutiérrez‐Enríquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas V.O., Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion, Kölbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, López‐Fernández, Adrià, Lucci‐Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles‐Fernández, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Müller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai‐ren, Pachter, Nicholas, Palmero, Edenir I., Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez‐Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl‐Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sánchez de Abajo, Ana María, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa‐Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean V., Teo, Soo H., Teulé, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Törngren, Therese, Torres‐Esquius, Sara, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana, Vargas‐Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang‐Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmüller, Lisa, Witzel, Isabell, Wöckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder‐Göß, Christine, Investigators, KConFab, Lázaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., Spurdle, Amanda B.
Publicado 2019