A novel nonsense variant in POGZ expanding the spectrum of White-Sutton syndrome: A case report von Chebly, Alain, Salem, Nabiha, Moussallem, Romy, Moukarzel, Adib

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Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever von Feghali, Rudy, Ibrahim, José-Noel, Salem, Nabiha, Moussallem, Romy, Hijazi, Ghina, Attieh, Charbel, Yammine, Tony, Chebly, Alain

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

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Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants von Daou, Melissa, Souaid, Mirna, Yammine, Tony, Khneisser, Issam, Mansour, Hicham, Salem, Nabiha, Nemr, Antony, Awwad, Johnny, Moukarzel, Adib, Farra, Chantal

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A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness von Yasunaga, Shin'ichiro, Grati, M'hamed, Cohen-Salmon, Martine, El-Amraoui, Aziz, Mustapha, Mirna, Salem, Nabiha, El-Zir, Elie, Loiselet, Jacques, Petit, Christine

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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C von Verpy, Elisabeth, Leibovici, Michel, Zwaenepoel, Ingrid, Liu, Xue-Zhong, Gal, Andreas, Salem, Nabiha, Mansour, Ahmad, Blanchard, Stéphane, Kobayashi, Ichiro, Keats, Bronya J.B., Slim, Rima, Petit, Christine

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Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon von Jalkh, Nadine, Nassar-Slaba, Jinane, Chouery, Eliane, Salem, Nabiha, Uhrchammer, Nancy, Golmard, Lisa, Stoppa-Lyonnet, Domique, Bignon, Yves-Jean, Mégarbané, André

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Novel SCN9A variant associated with congenital insensitivity to pain von Yammine, Tony, Aprahamian, Raffi, Souaid, Mirna, Salem, Nabiha, Awwad, Johnny, Farra, Chantal

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A homozygous missense variant in PTPN2 with early-onset Crohn’s disease, growth failure and dysmorphic features in an infant: a case report von AWWAD, JOHNNY, SOUAID, MIRNA, YAMMINE, TONY, CHEBLY, ALAIN, SALEM, NABIHA, ESBER, RITA, FARRA, CHANTAL

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Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects von Medlej-Hashim, Myrna, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Rawashdeh, Mohammed, Lefranc, Gérard, Loiselet, Jacques, Mégarbané, André

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Ex vivo PBMC cytokine profile in familial Mediterranean fever patients: Involvement of IL-1β, IL-1α and Th17-associated cytokines and decrease of Th1 and Th2 cytokines von Ibrahim, José-Noel, Jounblat, Rania, Delwail, Adriana, Abou-Ghoch, Joelle, Salem, Nabiha, Chouery, Eliane, Megarbane, André, Medlej-Hashim, Myrna, Lecron, Jean-Claude

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molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene von Abifadel, Marianne, Rabès, Jean-Pierre, Jambart, Sélim, Halaby, Georges, Gannagé-Yared, Marie-Hélène, Sarkis, Antoine, Beaino, Ghada, Varret, Mathilde, Salem, Nabiha, Corbani, Sandra, Aydénian, Hermine, Junien, Claudine, Munnich, Arnold, Boileau, Catherine

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FokI vitamin D receptor gene polymorphism and serum 25-hydroxyvitamin D in patients with cardiovascular risk von Nakhl, Sahar, Sleilaty, Ghassan, Chouery, Eliane, Salem, Nabiha, Chahine, Ramez, Farès, Nassim

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Fok I vitamin D receptor gene polymorphism and serum 25-hydroxyvitamin D in patients with cardiovascular risk von Nakhl, Sahar, Sleilaty, Ghassan, Chouery, Eliane, Salem, Nabiha, Chahine, Ramez, Farès, Nassim

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CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592 von Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Levy, Nicolas, Mégarbané, André, Delague, Valérie

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Heterozygous and Homozygous Mutations in PITX3 in a Large Lebanese Family with Posterior Polar Cataracts and Neurodevelopmental Abnormalities von Bidinost, Carla, Matsumoto, Masayuki, Chung, Daniel, Salem, Nabiha, Zhang, Kang, Stockton, David W, Khoury, Antoine, Megarbane, Andre, Bejjani, Bassem A, Traboulsi, Elias I

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Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype–genotype correlation von Mattit, Hanadi, Joma, Muhidin, Al-Cheikh, Salwa, El-Khateeb, Mohammed, Medlej-Hashim, Myrna, Salem, Nabiha, Delague, Valérie, Mégarbané, André

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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients von Choucair, Nancy, Ghoch, Joelle Abou, Corbani, Sandra, Cacciagli, Pierre, Mignon-Ravix, Cecile, Salem, Nabiha, Jalkh, Nadine, El Sabbagh, Sandra, Fawaz, Ali, Ibrahim, Tony, Villard, Laurent, Mégarbané, André, Chouery, Eliane

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CAMOS, a non-progressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant Zinc-Finger protein, ZNF592 von Delague, Valérie, Nicolas, Elsa, Poitelon, Yannick, Chouery, Eliane, Salem, Nabiha, Lévy, Nicolas, Mégarbané, André

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Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism von Laurier, Virginie, Stoetzel, Corinne, Muller, Jean, Thibault, Christelle, Corbani, Sandra, Jalkh, Nadine, Salem, Nabiha, Chouery, Eliane, Poch, Olivier, Licaire, Serge, Danse, Jean-Marc, Amati-Bonneau, Patricia, Bonneau, Dominique, Mégarbané, André, Mandel, Jean-Louis, Dollfus, Hélène

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