Effects of the implementation of second-line prenatal cell-free DNA testing on termination of pregnancy in a French perinatal network
Duvillier, Clémence, Dard, Rodolphe, Hervé, Bérénice, Cohen, Camille, Vialard, François, Quibel, Thibaud
Published in European journal of obstetrics & gynecology and reproductive biology (01.12.2021)
Published in European journal of obstetrics & gynecology and reproductive biology (01.12.2021)
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Journal Article
Are de novo rea(21;21) chromosomes really de novo?
Hervé, Bérénice, Quibel, Thibaud, Taieb, Stéphane, Ruiz, Mireille, Molina‐Gomes, Denise, Vialard, François
Published in Clinical case reports (01.10.2015)
Published in Clinical case reports (01.10.2015)
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Journal Article
Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations
Bellil, Hela, Molina-Gomes, Denise, Quibel, Thibaud, Roy, Sophie, Dard, Rodolphe, Vialard, François, Herve, Bérénice
Published in European journal of medical genetics (01.08.2020)
Published in European journal of medical genetics (01.08.2020)
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Journal Article
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François
Published in Prenatal diagnosis (01.08.2015)
Published in Prenatal diagnosis (01.08.2015)
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Journal Article
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Testard, Quentin, Vanhoye, Xavier, Yauy, Kevin, Naud, Marie-Emmanuelle, Vieville, Gaelle, Rousseau, Francis, Dauriat, Benjamin, Marquet, Valentine, Bourthoumieu, Sylvie, Geneviève, David, Gatinois, Vincent, Wells, Constance, Willems, Marjolaine, Coubes, Christine, Pinson, Lucile, Dard, Rodolphe, Tessier, Aude, Hervé, Bérénice, Vialard, François, Harzallah, Ines, Touraine, Renaud, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Pichon, Olivier, Laudier, Béatrice, Mesnard, Laurent, Doreille, Alice, Busa, Tiffany, Missirian, Chantal, Satre, Véronique, Coutton, Charles, Celse, Tristan, Harbuz, Radu, Raymond, Laure, Taly, Jean-François, Thevenon, Julien
Published in Journal of medical genetics (01.12.2022)
Published in Journal of medical genetics (01.12.2022)
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Journal Article
Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?
Jordan, Pénélope, Verebi, Camille, Hervé, Bérénice, Perol, Sandrine, Bernard, Valérie, Karila, Daphné, Jali, Eva, Brac de la Perrière, Aude, Grouthier, Virginie, Jonard-Catteau, Sophie, Touraine, Philippe, Fouveaut, Corinne, Plu-Bureau, Geneviève, Michel Dupont, Jean, Bachelot, Anne, Christin-Maitre, Sophie, Bienvenu, Thierry
Published in Gene (15.11.2024)
Published in Gene (15.11.2024)
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Journal Article
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology
Jordan, Pénélope, Verebi, Camille, Hervé, Bérénice, Perol, Sandrine, Chakhtoura, Zeina, Courtillot, Carine, Bachelot, Anne, Karila, Daphné, Renard, Céline, Grouthier, Virginie, Croix, Stanislas Mulot, Bernard, Valérie, Fouveaut, Corinne, Perrière, Aude Brac, Jonard‐Catteau, Sophie, Touraine, Philippe, Plu‐Bureau, Geneviève, Dupont, Jean Michel, Christin‐Maitre, Sophie, Bienvenu, Thierry
Published in Clinical genetics (01.07.2024)
Published in Clinical genetics (01.07.2024)
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Journal Article
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
Hureaux, Marguerite, Guterman, Sarah, Hervé, Bérénice, Till, Marianne, Jaillard, Sylvie, Redon, Sylvie, Valduga, Myléne, Coutton, Charles, Missirian, Chantal, Prieur, Fabienne, Simon‐Bouy, Brigitte, Beneteau, Claire, Kuentz, Paul, Rooryck, Caroline, Gruchy, Nicolas, Marle, Nathalie, Plutino, Morgane, Tosca, Lucie, Dupont, Celine, Puechberty, Jacques, Schluth‐Bolard, Caroline, Salomon, Laurent, Sanlaville, Damien, Malan, Valérie, Vialard, François
Published in Prenatal diagnosis (01.05.2019)
Published in Prenatal diagnosis (01.05.2019)
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Journal Article
A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report
Bellil, Hela, Herve, Bérenice, Herzog, Elodie, Ayoubi, Jean-Marc, Vialard, François, Poulain, Marine
Published in Journal of assisted reproduction and genetics (01.03.2020)
Published in Journal of assisted reproduction and genetics (01.03.2020)
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Journal Article
First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review
Guterman, Sarah, Hervé, Bérénice, Rivière, Julie, Fauvert, Delphine, Clement, Patrice, Vialard, François
Published in The journal of obstetrics and gynaecology research (01.03.2018)
Published in The journal of obstetrics and gynaecology research (01.03.2018)
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Journal Article
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review
Bouassida, Malek, Egloff, Matthieu, Levy, Jonathan, Chatron, Nicolas, Bernardini, Laura, Le Guyader, Gwenaël, Tabet, Anne-Claude, Schluth-Bolard, Caroline, Brancati, Francesco, Giuffrida, Maria Grazia, Dard, Rodolphe, Clorennec, Juliette, Coursimault, Juliette, Vialard, François, Hervé, Bérénice
Published in European journal of human genetics : EJHG (01.08.2023)
Published in European journal of human genetics : EJHG (01.08.2023)
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Journal Article
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling
Bouassida, Malek, Molina‐Gomes, Denise, Koraichi, Fairouz, Hervé, Bérénice, Lhuilier, Morgane, Duvillier, Clémence, Le Gall, Jessica, Gauthier‐Villars, Marion, Serazin, Valérie, Quibel, Thibaud, Dard, Rodolphe, Vialard, François
Published in Molecular genetics & genomic medicine (01.04.2024)
Published in Molecular genetics & genomic medicine (01.04.2024)
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Journal Article
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
Lesieur‐Sebellin, Marion, Till, Marianne, Khau Van Kien, Philippe, Herve, Bérénice, Bourgon, Nicolas, Dupont, Céline, Tabet, Anne‐Claude, Barrois, Mathilde, Coussement, Aurélie, Loeuillet, Laurence, Mousty, Eve, Ea, Vuthy, Assal, Amal, Mary, Laura, Jaillard, Sylvie, Beneteau, Claire, Le Vaillant, Claudine, Coutton, Charles, Devillard, Françoise, Goumy, Carole, Delabaere, Amélie, Redon, Sylvia, Laurent, Yves, Lamouroux, Audrey, Massardier, Jérôme, Turleau, Catherine, Sanlaville, Damien, Cantagrel, Vincent, Sonigo, Pascale, Vialard, François, Salomon, Laurent J., Malan, Valérie
Published in Prenatal diagnosis (01.01.2022)
Published in Prenatal diagnosis (01.01.2022)
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Journal Article
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies: Prevalence of recurrent pathogenic copy number in prenatal population
Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François
Published in Prenatal diagnosis (01.08.2015)
Published in Prenatal diagnosis (01.08.2015)
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Journal Article
Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature
Capron, Céline, Januel, Louis, Vieville, Gaëlle, Jaillard, Sylvie, Kuentz, Paul, Salaun, Gaëlle, Nadeau, Gwenaël, Clement, Patrice, Brechard, Marie Pierre, Herve, Bérénice, Dupont, Jean Michel, Gruchy, Nicolas, Chambon, Pascal, Abdelhedi, Fatma, Dahlen, Eric, Vago, Philippe, Harbuz, Radu, Plotton, Ingrid, Coutton, Charles, Belaud‐Rotureau, Marc‐Antoine, Schluth‐Bolard, Caroline, Vialard, François
Published in Andrology (Oxford) (01.11.2022)
Published in Andrology (Oxford) (01.11.2022)
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Journal Article
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype
Dard, Rodolphe, Herve, Bérénice, Leblanc, Thierry, de Villartay, Jean-Pierre, Collopy, Laura, Vulliami, Tom, Drunat, Severine, Gorde, Stephanie, Babik, Abel, Souchon, Pierre-François, Agadr, Aomar, Abilkassem, Rachid, Elalloussi, Mustapha, Verloes, Alain, Doco-Fenzy, Martine
Published in Pediatric allergy and immunology (01.05.2017)
Published in Pediatric allergy and immunology (01.05.2017)
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Journal Article
Physiopathologie des aneuploïdies : conséquences du déséquilibre chromosomique sur l’organisation nucléaire et l’expression globale du génome
Hervé, Bérénice, Coussement, Aurélie, Guilbert, Thomas, Dumont, Florent, Jacques, Sébastien, Cuisset, Laurence, Chicard, Mathieu, Bourdoncle, Pierre, Letourneur, Franck, Choiset, Agnès, Dupont, Jean-Michel
Published in Morphologie (01.12.2015)
Published in Morphologie (01.12.2015)
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Journal Article
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
Lesieur-Sebellin, Marion, Till, Marianne, Khau van Kien, Philippe, Herve, Bérénice, Bourgon, Nicolas, Dupont, Céline, Tabet, Anne‐claude, Barrois, Mathilde, Coussement, Aurélie, Loeuillet, Laurence, Mousty, Eve, Ea, Vuthy, Assal, Amal, Mary, Laura, Jaillard, Sylvie, Beneteau, Claire, Le Vaillant, Claudine, Coutton, Charles, Devillard, Françoise, Goumy, Carole, Delabaere, Amélie, Redon, Sylvia, Laurent, Yves, Lamouroux, Audrey, Massardier, Jérôme, Turleau, Catherine, Sanlaville, Damien, Cantagrel, Vincent, Sonigo, Pascale, Vialard, François, Salomon, Laurent, Malan, Valérie
Published in Prenatal diagnosis (01.01.2022)
Published in Prenatal diagnosis (01.01.2022)
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Journal Article
DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype
Dard, Rodolphe, Herve, Bérénice, Leblanc, Thierry, Villartay, Jean‐Pierre, Collopy, Laura, Vulliami, Tom, Drunat, Severine, Gorde, Stephanie, Babik, Abel, Souchon, Pierre‐François, Agadr, Aomar, Abilkassem, Rachid, Elalloussi, Mustapha, Verloes, Alain, Doco‐Fenzy, Martine
Published in Pediatric allergy and immunology (01.05.2017)
Published in Pediatric allergy and immunology (01.05.2017)
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Journal Article
Are de novo rea(21;21) chromosomes really de novo?
Hervé, Bérénice, Quibel, Thibaud, Taieb, Stéphane, Ruiz, Mireille, Molina-Gomes, Denise, Vialard, François
Published in Clinical case reports (01.10.2015)
Published in Clinical case reports (01.10.2015)
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