Contiguous mutation syndrome in the era of high-throughput sequencing

Yazar: Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M S, Barouki, Robert, Amiel, Jeanne, Colleaux, Laurence
Yayımlandı Mol Genet Genomic Med (2015)

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

Yazar: Nguyen, Lam Son, Lepleux, Marylin, Makhlouf, Mélanie, Martin, Christelle, Fregeac, Julien, Siquier-Pernet, Karine, Philippe, Anne, Feron, François, Gepner, Bruno, Rougeulle, Claire, Humeau, Yann, Colleaux, Laurence
Yayımlandı Mol Autism (2016)

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

Yazar: Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Laurence, Malan, Valérie
Yayımlandı Eur J Hum Genet (2018)

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Yazar: Nguyen, Lam Son, Schneider, Taiane, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Verny, Florine, Boddaert, Nathalie, Desguerre, Isabelle, Munich, Arnold, Rosa, José Luis, Cormier-Daire, Valérie, Colleaux, Laurence
Yayımlandı Eur J Hum Genet (2016)

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Yazar: Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisson, Nadia, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Colleaux, Laurence, Cantagrel, Vincent
Yayımlandı Orphanet J Rare Dis (2016)

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Yazar: Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Reis, Andre, Sticht, Heinrich, Al-Sanna’a, Nouriya, Rolfs, Arndt, Kulik, Akos, Schulte, Uwe, Colleaux, Laurence, Abou Jamra, Rami, Fakler, Bernd
Yayımlandı Nat Commun (2017)

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Yazar: Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon
Yayımlandı Am J Hum Genet (2016)

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Yazar: Mircsof, Dennis, Langouët, Maéva, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Bole-Feysot, Christine, Cagnard, Nicolas, Nitschke, Patrick, Gaspar, Ludmila, Žnidarič, Matej, Alibeu, Olivier, Fritz, Ann-Kristina, Wolfer, David P, Schröter, Aileen, Bosshard, Giovanna, Rudin, Markus, Koester, Christina, Crestani, Florence, Seebeck, Petra, Boddaert, Nathalie, Prescott, Katrina, Hines, Rochelle, Moss, Steven J, Fritschy, Jean-Marc, Munnich, Arnold, Amiel, Jeanne, Brown, Steven A, Tyagarajan, Shiva K, Colleaux, Laurence
Yayımlandı Nat Neurosci (2015)

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Yazar: Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry
Yayımlandı Brain (2019)

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Yazar: Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana
Yayımlandı Am J Hum Genet (2020)

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Yazar: Pant, Devesh C., Dorboz, Imen, Schluter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera-Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas, Carlos, Willis, Mary J., Ruiz, Montserrat, Ville, Dorothée, Lesca, Gaetan, Siquier-Pernet, Karine, Desguerre, Isabelle, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Brady, Lauren, Tarnopolsky, Mark, Cornet, Carles, Rubbini, Davide, Terriente, Javier, James, Kiely N., Musaev, Damir, Zaki, Maha S., Patterson, Marc C., Lanpher, Brendan C., Klee, Eric W., Pinto e Vairo, Filippo, Wohler, Elizabeth, Sobreira, Nara Lygia de M., Cohen, Julie S., Maroofian, Reza, Galehdari, Hamid, Mazaheri, Neda, Shariati, Gholamreza, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G., Pujades, Cristina, Fatemi, Ali, Boespflug-Tanguy, Odile, Pujol, Aurora
Yayımlandı J Clin Invest (2019)