Inference of Diagnostic Markers and Therapeutic Targets From CSF Proteomics for the Treatment of Hydrocephalus

由 Horowitz, Arie, Saugier-Veber, Pascale, Gilard, Vianney
發表在 Front Cell Neurosci (2020)

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

由 Friocourt, Gaëlle, Marcorelles, Pascale, Saugier-Veber, Pascale, Quille, Marie-Lise, Marret, Stephane, Laquerrière, Annie
出版 2010

Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies

由 Corral, Edgardo, Barrios, Andres, Isnard, Monica, Saugier-Veber, Pascale, Fortier, Sophie M., Durrin, Sarah, Sepulveda, Waldo
發表在 Case Rep Obstet Gynecol (2015)

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

由 Tordjman, Sylvie, Anderson, George M, Cohen, David, Kermarrec, Solenn, Carlier, Michèle, Touitou, Yvan, Saugier-Veber, Pascale, Lagneaux, Céline, Chevreuil, Claire, Verloes, Alain
出版 2013

Refined Characterization of the Expression and Stability of the SMN Gene Products

由 Vitte, Jérémie, Fassier, Coralie, Tiziano, Francesco D., Dalard, Cécile, Soave, Sabrina, Roblot, Natacha, Brahe, Christine, Saugier-Veber, Pascale, Bonnefont, Jean Paul, Melki, Judith
出版 2007

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

由 Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel
出版 2011

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

由 Marguet, Florent, Vezain, Myriam, Marcorelles, Pascale, Audebert-Bellanger, Séverine, Cassinari, Kévin, Drouot, Nathalie, Chambon, Pascal, Gonzalez, Bruno J., Horowitz, Arie, Laquerriere, Annie, Saugier-Veber, Pascale
發表在 Acta Neuropathol Commun (2021)

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

由 Tordjman, Sylvie, Anderson, George M., Botbol, Michel, Toutain, Annick, Sarda, Pierre, Carlier, Michèle, Saugier-Veber, Pascale, Baumann, Clarisse, Cohen, David, Lagneaux, Céline, Tabet, Anne-Claude, Verloes, Alain
出版 2012

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

由 Dabaj, Ivana, Sudrié-Arnaud, Bénédicte, Lecoquierre, François, Raymond, Kimiyo, Ducatez, Franklin, Guerrot, Anne-Marie, Snanoudj, Sarah, Coutant, Sophie, Saugier-Veber, Pascale, Marret, Stéphane, Nicolas, Gaël, Tebani, Abdellah, Bekri, Soumeya
發表在 Life (Basel) (2021)

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

由 Saugier-Veber, Pascale, Marguet, Florent, Lecoquierre, François, Adle-Biassette, Homa, Guimiot, Fabien, Cipriani, Sara, Patrier, Sophie, Brasseur-Daudruy, Marie, Goldenberg, Alice, Layet, Valérie, Capri, Yline, Gérard, Marion, Frébourg, Thierry, Laquerrière, Annie
發表在 Acta Neuropathol Commun (2017)

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

由 Gaildrat, Pascaline, Lebbah, Said, Tebani, Abdellah, Sudrié‐Arnaud, Bénédicte, Tostivint, Isabelle, Bollee, Guillaume, Tubeuf, Hélène, Charles, Thomas, Bertholet‐Thomas, Aurelia, Goldenberg, Alice, Barbey, Frederic, Martins, Alexandra, Saugier‐Veber, Pascale, Frébourg, Thierry, Knebelmann, Bertrand, Bekri, Soumeya
發表在 Mol Genet Genomic Med (2017)

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalos...

由 Vezain, Myriam, Lecuyer, Matthieu, Rubio, Marina, Dupé, Valérie, Ratié, Leslie, David, Véronique, Pasquier, Laurent, Odent, Sylvie, Coutant, Sophie, Tournier, Isabelle, Trestard, Laetitia, Adle-Biassette, Homa, Vivien, Denis, Frébourg, Thierry, Gonzalez, Bruno J, Laquerrière, Annie, Saugier-Veber, Pascale
發表在 Acta Neuropathol Commun (2018)

Murine MPDZ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

由 Yang, Junning, Simonneau, Claire, Kilker, Robert, Oakley, Laura, Byrne, Matthew D, Nichtova, Zuzana, Stefanescu, Ioana, Pardeep‐Kumar, Fnu, Tripathi, Sushil, Londin, Eric, Saugier‐Veber, Pascale, Willard, Belinda, Thakur, Mathew, Pickup, Stephen, Ishikawa, Hiroshi, Schroten, Horst, Smeyne, Richard, Horowitz, Arie
發表在 EMBO Mol Med (2018)

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce...

由 Le Meur, Nathalie, Holder-Espinasse, Muriel, Jaillard, Sylvie, Goldenberg, Alice, Joriot, Sylvie, Amati-Bonneau, Patrizia, Guichet, Agnès, Barth, Magalie, Charollais, Aude, Journel, Hubert, Auvin, Stéphane, Boucher, Cécile, Kerckaert, Jean-Pierre, David, Véronique, Manouvrier-Hanu, Sylvie, Saugier-Veber, Pascale, Frébourg, Thierry, Dubourg, Christèle, Andrieux, Joris, Bonneau, Dominique
出版 2010

SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients

由 Humbert, Linda, Dubucquoi, Sylvain, Kemp, Elizabeth, Saugier-Veber, Pascale, Fabien, Nicole, Isabelle, Raymond Top, Cardot-Bauters, Catherine, Maciejewski Cartigny, Maryse, Delemer, Brigitte, Docao, Christine, Carel, Jean-Claude, Guignat, Laurence, Kerlan, Veronique, Lefevre, Herve, Vanhove, Laura, Sendid, Boualem, Souchon, Pierre-François, Weill, Jacques, Vantyghem, Marie-Christine, Wemeau, Jean-Louis, Proust Lemoine, Emmanuelle
發表在 J Endocr Soc (2019)

Searching for secondary findings: considering actionability and preserving the right not to know

由 Isidor, Bertrand, Julia, Sophie, Saugier-Veber, Pascale, Weil-Dubuc, Paul-Loup, Bézieau, Stéphane, Bieth, Eric, Bonnefont, Jean-Paul, Munnich, Arnold, Bourdeaut, Franck, Bourgain, Catherine, Chassaing, Nicolas, Corradini, Nadège, Haye, Damien, Plaisancie, Julie, Dupin-Deguine, Delphine, Calvas, Patrick, Mignot, Cyril, Cogné, Benjamin, Manouvrier, Sylvie, Pasquier, Laurent, Héron, Delphine, Boycott, Kym M, Turrini, Mauro, Vears, Danya F., Nizon, Mathilde, Vincent, Marie
發表在 Eur J Hum Genet (2019)

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

由 Husson, Thomas, Lecoquierre, François, Cassinari, Kevin, Charbonnier, Camille, Quenez, Olivier, Goldenberg, Alice, Guerrot, Anne-Marie, Richard, Anne-Claire, Drouin-Garraud, Valérie, Brehin, Anne-Claire, Soleimani, Maryam, Taton, Romain, Rotharmel, Maud, Rosier, Antoine, Chambon, Pascal, Le Meur, Nathalie, Joly-Helas, Géraldine, Saugier-Veber, Pascale, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Frebourg, Thierry, Nicolas, Gael, Guillin, Olivier, Campion, Dominique
發表在 Transl Psychiatry (2020)

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

由 Guilmatre, Audrey, Dubourg, Christèle, Mosca, Anne-Laure, Legallic, Solenn, Goldenberg, Alice, Drouin-Garraud, Valérie, Layet, Valérie, Rosier, Antoine, Briault, Sylvain, Bonnet-Brilhault, Frédérique, Laumonnier, Frédéric, Odent, Sylvie, Le Vacon, Gael, Joly-Helas, Géraldine, David, Véronique, Bendavid, Claude, Pinoit, Jean-Michel, Henry, Céline, Impallomeni, Caterina, Germano, Eva, Tortorella, Gaetano, Di Rosa, Gabriella, Barthelemy, Catherine, Andres, Christian, Faivre, Laurence, Frébourg, Thierry, Saugier Veber, Pascale, Campion, Dominique
出版 2009

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

由 Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, Faivre, Laurence
發表在 Eur J Hum Genet (2016)

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

由 Quenez, Olivier, Cassinari, Kevin, Coutant, Sophie, Lecoquierre, François, Le Guennec, Kilan, Rousseau, Stéphane, Richard, Anne-Claire, Vasseur, Stéphanie, Bouvignies, Emilie, Bou, Jacqueline, Lienard, Gwendoline, Manase, Sandrine, Fourneaux, Steeve, Drouot, Nathalie, Nguyen-Viet, Virginie, Vezain, Myriam, Chambon, Pascal, Joly-Helas, Géraldine, Le Meur, Nathalie, Castelain, Mathieu, Boland, Anne, Deleuze, Jean-François, Tournier, Isabelle, Charbonnier, Françoise, Kasper, Edwige, Bougeard, Gaëlle, Frebourg, Thierry, Saugier-Veber, Pascale, Baert-Desurmont, Stéphanie, Campion, Dominique, Rovelet-Lecrux, Anne, Nicolas, Gaël
發表在 Eur J Hum Genet (2020)