CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Por Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Levy, Nicolas, Mégarbané, André, Delague, Valérie
Publicado em 2010

VarAFT: a variant annotation and filtration system for human next generation sequencing data

Por Desvignes, Jean-Pierre, Bartoli, Marc, Delague, Valérie, Krahn, Martin, Miltgen, Morgane, Béroud, Christophe, Salgado, David
Publicado no Nucleic Acids Res (2018)

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

Por Medlej-Hashim, Myrna, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Rawashdeh, Mohammed, Lefranc, Gérard, Loiselet, Jacques, Mégarbané, André
Publicado em 2004

Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

Por Adaimy, Lynn , Chouery, Eliane , Mégarbané, Hala , Mroueh, Salman , Delague, Valérie , Nicolas, Elsa , Belguith, Hanen , de Mazancourt, Philippe , Mégarbané, André 
Publicado em 2007

Mapping of a New Locus for Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease to 19q13.1-13.3 in a Large Consanguineous Lebanese Family: Exclusion of MAG as a Candidate...

Por Delague, Valérie, Bareil, Corinne, Tuffery, Sylvie, Bouvagnet, Patrice, Chouery, Eliane, Koussa, Salam, Maisonobe, Thierry, Loiselet, Jacques, Mégarbané, André, Claustres, Mireille
Publicado em 2000

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

Por Nair, Pratibha, Lama, Maher, El-Hayek, Stephany, Abou Sleymane, Gretta, Stora, Samantha, Obeid, Marc, Al-Ali, Mahmoud T., Delague, Valérie, Mégarbané, André
Publicado no Mol Syndromol (2019)

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

Por Nair, Pratibha, El-Bazzal, Lara, Mansour, Hicham, Sabbagh, Sandra, Al-Ali, Mahmoud Taleb, Gambarini, Alicia, Delague, Valerie, El-Hayek, Stephany, Mégarbané, André
Publicado no J Pediatr Genet (2019)

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

Por Auguste, Yasmina, Delague, Valérie, Desvignes, Jean-Pierre, Longepied, Guy, Gnisci, Audrey, Besnier, Pierre, Levy, Nicolas, Beroud, Christophe, Megarbane, André, Metzler-Guillemain, Catherine, Mitchell, Michael J.
Publicado no Am J Hum Genet (2018)

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Por Delague, Valérie , Jacquier, Arnaud , Hamadouche, Tarik , Poitelon, Yannick , Baudot, Cécile , Boccaccio, Irène , Chouery, Eliane , Chaouch, Malika , Kassouri, Nora , Jabbour, Rosette , Grid, Djamel , Mégarbané, André , Haase, Georg , Lévy, Nicolas 
Publicado em 2007

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

Por Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André
Publicado em 2014

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Por Jaouadi, Hager, Chehida, Amel Ben, Kraoua, Lilia, Etchevers, Heather C., Argiro, Laurent, Kasdallah, Nadia, Blibech, Sonia, Delague, Valérie, Lévy, Nicolas, Tebib, Néji, Mrad, Ridha, Abdelhak, Sonia, Benkhalifa, Rym, Zaffran, Stéphane
Publicado no Genet Res (Camb) (2019)

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Por Chikhaoui, Asma, Elouej, Sahar, Nabouli, Imen, Jones, Meriem, Lagarde, Arnaud, Ben Rekaya, Meriem, Messaoud, Olfa, Hamdi, Yosr, Zghal, Mohamed, Delague, Valerie, Levy, Nicolas, De Sandre-Giovannoli, Annachiara, Abdelhak, Sonia, Yacoub-Youssef, Houda
Publicado no Front Genet (2019)

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Por Ghedira, Nehla, Lagarde, Arnaud, Ben Ameur, Karim, Elouej, Sahar, Sakka, Rania, Kerkeni, Emna, Chioukh, Fatma-Zohra, Olschwang, Sylviane, Desvignes, Jean-Pierre, Abdelhak, Sonia, Delague, Valerie, Lévy, Nicolas, Monastiri, Kamel, De Sandre-Giovannoli, Annachiara
Publicado no BMC Pediatr (2018)

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Por Bacquet, Juliette, Stojkovic, Tanya, Boyer, Amandine, Martini, Nathalie, Audic, Frédérique, Chabrol, Brigitte, Salort-Campana, Emmanuelle, Delmont, Emilien, Desvignes, Jean-Pierre, Verschueren, Annie, Attarian, Shahram, Chaussenot, Annabelle, Delague, Valérie, Levy, Nicolas, Bonello-Palot, Nathalie
Publicado no BMJ Open (2018)

FANCA Gene Mutations in North African Fanconi Anemia Patients

Por Ben Haj Ali, Abir, Messaoud, Olfa, Elouej, Sahar, Talmoudi, Faten, Ayed, Wiem, Mellouli, Fethi, Ouederni, Monia, Hadiji, Sondes, De Sandre-Giovannoli, Annachiara, Delague, Valérie, Lévy, Nicolas, Bogliolo, Massimo, Surrallés, Jordi, Abdelhak, Sonia, Amouri, Ahlem
Publicado no Front Genet (2021)

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Por Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., Cohen, Monika, Chouery, Eliane, Adaimy, Lynn, Ghanem, Ismat, Delague, Valerie, Boltshauser, Eugen, Talim, Beril, Horvath, Rita, Robinson, Peter N., Lochmüller, Hanns, Hübner, Christoph, Mundlos, Stefan
Publicado em 2006

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Por Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Publicado em 2011

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415

Por Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Publicado em 2012

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Por Jalkh, Nadine, Corbani, Sandra, Haidar, Zahraa, Hamdan, Nadine, Farah, Elias, Abou Ghoch, Joelle, Ghosn, Rouba, Salem, Nabiha, Fawaz, Ali, Djambas Khayat, Claudia, Rajab, Mariam, Mourani, Chebl, Moukarzel, Adib, Rassi, Simon, Gerbaka, Bernard, Mansour, Hicham, Baassiri, Malek, Dagher, Rawane, Breich, David, Mégarbané, André, Desvignes, Jean Pierre, Delague, Valérie, Mehawej, Cybel, Chouery, Eliane
Publicado no BMC Med Genomics (2019)

WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease

Por Vodopiutz, Julia, Seidl, Rainer, Prayer, Daniela, Khan, M. Imran, Mayr, Johannes A., Streubel, Berthold, Steiß, Jens-Oliver, Hahn, Andreas, Csaicsich, Dagmar, Castro, Christel, Assoum, Mirna, Müller, Thomas, Wieczorek, Dagmar, Mancini, Grazia M. S., Sadowski, Carolin E., Levy, Nicolas, Mégarbané, André, Godbole, Koumudi, Schanze, Denny, Hildebrandt, Friedhelm, Delague, Valérie, Janecke, Andreas R., Zenker, Martin
Publicado no Hum Mutat (2015)