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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Author / Creator:Rouxel, Flavien ; Yauy, Kevin ; Boursier, Guilaine ; Gatinois, Vincent ; Barat-Houari, Mouna ; Sanchez, Elodie ; Lacombe, Didier ; Arpin, Stéphanie ; Giuliano, Fabienne ; Haye, Damien ; Rio, Marlène ; Toutain, Annick ; Dieterich, Klaus ; Brischoux-Boucher, Elise ; Julia, Sophie ; Nizon, Mathilde ; Afenjar, Alexandra ; Keren, Boris ; Jacquette, Aurelia ; Moutton, Sebastien ; Jacquemont, Marie-Line ; Duflos, Claire ; Capri, Yline ; Amiel, Jeanne ; Blanchet, Patricia ; Lyonnet, Stanislas ; Sanlaville, Damien ; Genevieve, David
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-06, Vol.30 (6), p.682-686
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Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome
Author / Creator:Geoffron, Sophie ; Abi Habib, Walid ; Chantot-Bastaraud, Sandra ; Dubern, Béatrice ; Steunou, Virginie ; Azzi, Salah ; Afenjar, Alexandra ; Busa, Tiffanny ; Canton, Ana P ; Chalouhi, Christel ; Dufourg, Marie-Noëlle ; Esteva, Blandine ; Fradin, Mélanie ; Geneviève, David ; Heide, Solveig ; Isidor, Bertrand ; Linglart, Agnès ; Morice Picard, Fanny ; Naud-Saudreau, Catherine ; Oliver Petit, Isabelle ; Philip, Nicole ; Pienkowski, Catherine ; Rio, Marlène ; Rossignol, Sylvie ; Tauber, Maithé ; Thevenon, Julien ; Vu-Hong, Thuy-Ai ; Harbison, Madeleine D ; Salem, Jennifer ; Brioude, Frédéric ; Netchine, Irène ; Giabicani, Eloïse
Publisher:United States: Copyright Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2018-07, Vol.103 (7), p.2436-2446
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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Author / Creator:Pennisi, Alessandra ; Rötig, Agnès ; Roux, Charles-Joris ; Lévy, Raphaël ; Henneke, Marco ; Gärtner, Jutta ; Teke Kisa, Pelin ; Sarioglu, Fatma Ceren ; Yiş, Uluç ; Konczal, Laura L ; Burkardt, Deepika D ; Wu, Sulin ; Gaignard, Pauline ; Besmond, Claude ; Hubert, Laurence ; Rio, Marlène ; Barcia, Giulia ; Munnich, Arnold ; Boddaert, Nathalie ; Schiff, Manuel
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-02, Vol.59 (2), p.204-208
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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Author / Creator:Gonçalves, Sara ; Patat, Julie ; Guida, Maria Clara ; Lachaussée, Noelle ; Arrondel, Christelle ; Helmstädter, Martin ; Boyer, Olivia ; Gribouval, Olivier ; Gubler, Marie-Claire ; Mollet, Geraldine ; Rio, Marlène ; Charbit, Marina ; Bole-Feysot, Christine ; Nitschke, Patrick ; Huber, Tobias B. ; Wheeler, Patricia G. ; Haynes, Devon ; Juusola, Jane ; Billette de Villemeur, Thierry ; Nava, Caroline ; Afenjar, Alexandra ; Keren, Boris ; Bodmer, Rolf ; Antignac, Corinne ; Simons, Matias
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2018-05, Vol.14 (5), p.e1007386-e1007386
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Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2015-12, Vol.18 (12), p.1731-1736
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Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders
Author / Creator:Vachin, Pauline ; Adda-Herzog, Elodie ; Chalouhi, Gihad ; Elie, Caroline ; Rio, Marlène ; Rondeau, Sophie ; Gigarel, Nadine ; Jabot Hanin, Fabienne ; Monnot, Sophie ; Borghese, Roxana ; Bengoa, Joana ; Ville, Yves ; Rotig, Agnes ; Munnich, Arnold ; Bonnefont, Jean-Paul ; Steffann, Julie
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-02, Vol.55 (2), p.131-136
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Select record 27
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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood
Author / Creator:Collet, Marie ; Assouline, Zahra ; Bonnet, Damien ; Rio, Marlène ; Iserin, Franck ; Sidi, Daniel ; Goldenberg, Alice ; Lardennois, Caroline ; Metodiev, Metodi Dimitrov ; Haberberger, Birgit ; Haack, Tobias ; Munnich, Arnold ; Prokisch, Holger ; Rötig, Agnès
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1112-1116
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Select record 28
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High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency
Author / Creator:de Beaurepaire, Isaure ; Grévent, David ; Rio, Marlène ; Desguerre, Isabelle ; de Lonlay, Pascale ; Levy, Raphaël ; Dangouloff-Ros, Volodia ; Bonnefont, Jean-Paul ; Barcia, Giulia ; Funalot, Benoit ; Besmond, Claude ; Metodiev, Metodi D ; Ruzzenente, Benedetta ; Assouline, Zahra ; Munnich, Arnold ; Rötig, Agnès ; Boddaert, Nathalie
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-06, Vol.55 (6), p.378-383
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Select record 29
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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
Author / Creator:Nava, Caroline ; Hanna, Nadine ; Michot, Caroline ; Pereira, Sabrina ; Pouvreau, Nathalie ; Niihori, Tetsuya ; Aoki, Yoko ; Matsubara, Yoichi ; Arveiler, Benoit ; Lacombe, Didier ; Pasmant, Eric ; Parfait, Béatrice ; Baumann, Clarisse ; Héron, Delphine ; Sigaudy, Sabine ; Toutain, Annick ; Rio, Marlène ; Goldenberg, Alice ; Leheup, Bruno ; Verloes, Alain ; Cavé, Hélène
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2007-12, Vol.44 (12), p.763-771
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Select record 30
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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.57-57, Article 57
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Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies
Author / Creator:Barcia, Giulia ; Chemaly, Nicole ; Gobin‐Limballe, Stéphanie ; Losito, Emma ; Aubart, Mélodie ; Sarda, Eugénie ; Assouline, Zahra ; Plante‐Bordeneuve, Pauline ; Hully, Marie ; Barrois, Remi ; Barnerias, Christine ; Sareidaki, Doxa ; Zeitoun, Delphine Coste ; Eisermann, Monika ; Fourrage, Cécile ; Hanein, Sylvain ; Rio, Marlène ; Boddaert, Nathalie ; Desguerre, Isabelle ; Kaminska, Anna ; Steffann, Julie ; Nabbout, Rima
Publisher:United States
Journal title:Epilepsia open, 2025-05
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Select record 32
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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
Author / Creator:Mignot, Cyril ; Apartis, Emmanuelle ; Durr, Alexandra ; Marques Lourenço, Charles ; Charles, Perrine ; Devos, David ; Moreau, Caroline ; de Lonlay, Pascale ; Drouot, Nathalie ; Burglen, Lydie ; Kempf, Nadine ; Nourisson, Elsa ; Chantot-Bastaraud, Sandra ; Lebre, Anne-Sophie ; Rio, Marlène ; Chaix, Yves ; Bieth, Eric ; Roze, Emmanuel ; Bonnet, Isabelle ; Canaple, Sandrine ; Rastel, Coralie ; Brice, Alexis ; Rötig, Agnès ; Desguerre, Isabelle ; Tranchant, Christine ; Koenig, Michel ; Anheim, Mathieu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-10, Vol.8 (1), p.173-173, Article 173
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Select record 33
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Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation
Author / Creator:Molinari, Florence ; Rio, Marlène ; Meskenaite, Virginia ; Encha-Razavi, Férechté ; Augé, Joelle ; Bacq, Delphine ; Briault, Sylvain ; Vekemans, Michel ; Munnich, Arnold ; Attié-Bitach, Tania ; Sonderegger, Peter ; Colleaux, Laurence
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2002-11, Vol.298 (5599), p.1779-1781
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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Author / Creator:Juven, Aurélien ; Nambot, Sophie ; Piton, Amélie ; Jean-Marçais, Nolwenn ; Masurel, Alice ; Callier, Patrick ; Marle, Nathalie ; Mosca-Boidron, Anne-Laure ; Kuentz, Paul ; Philippe, Christophe ; Chevarin, Martin ; Duffourd, Yannis ; Gautier, Elodie ; Munnich, Arnold ; Rio, Marlène ; Rondeau, Sophie ; El Chehadeh, Salima ; Schaefer, Élise ; Gérard, Bénédicte ; Bouquillon, Sonia ; Delorme, Catherine Vincent ; Francannet, Christine ; Laffargue, Fanny ; Gouas, Laetitia ; Isidor, Bertrand ; Vincent, Marie ; Blesson, Sophie ; Giuliano, Fabienne ; Pichon, Olivier ; Le Caignec, Cédric ; Journel, Hubert ; Perrin-Sabourin, Laurence ; Fabre-Teste, Jennifer ; Martin, Dominique ; Vieville, Gaelle ; Dieterich, Klaus ; Lacombe, Didier ; Denommé-Pichon, Anne-Sophie ; Thauvin-Robinet, Christel ; Faivre, Laurence
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1044-1055
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Select record 35
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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
Author / Creator:El Chehadeh-Djebbar, Salima ; Blair, Edward ; Holder-Espinasse, Muriel ; Moncla, Anne ; Frances, Anne-Marie ; Rio, Marlène ; Debray, François-Guillaume ; Rump, Patrick ; Masurel-Paulet, Alice ; Gigot, Nadège ; Callier, Patrick ; Duplomb, Laurence ; Aral, Bernard ; Huet, Frédéric ; Thauvin-Robinet, Christel ; Faivre, Laurence
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.736-742
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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia
Author / Creator:Cavé, Hélène ; Caye, Aurélie ; Ghedira, Nehla ; Capri, Yline ; Pouvreau, Nathalie ; Fillot, Natacha ; Trimouille, Aurélien ; Vignal, Cédric ; Fenneteau, Odile ; Alembik, Yves ; Alessandri, Jean-Luc ; Blanchet, Patricia ; Boute, Odile ; Bouvagnet, Patrice ; David, Albert ; Dieux Coeslier, Anne ; Doray, Bérénice ; Dulac, Olivier ; Drouin-Garraud, Valérie ; Gérard, Marion ; Héron, Delphine ; Isidor, Bertrand ; Lacombe, Didier ; Lyonnet, Stanislas ; Perrin, Laurence ; Rio, Marlène ; Roume, Joëlle ; Sauvion, Sylvie ; Toutain, Annick ; Vincent-Delorme, Catherine ; Willems, Marjorie ; Baumann, Clarisse ; Verloes, Alain
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1124-1131
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Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease
Author / Creator:Mafi, Sarah ; Laroche-Raynaud, Cécile ; Chazelas, Pauline ; Lia, Anne-Sophie ; Derouault, Paco ; Sturtz, Franck ; Baaj, Yasser ; Froget, Rachel ; Rio, Marlène ; Benoist, Jean-François ; Poumeaud, François ; Favreau, Frédéric ; Faye, Pierre-Antoine
Publisher:MDPI AG
Journal title:Brain sciences, 2020-11, Vol.10 (11), p.762
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients
Author / Creator:Michot, Caroline ; Le Goff, Carine ; Mahaut, Clémentine ; Afenjar, Alexandra ; Brooks, Alice S ; Campeau, Philippe M ; Destree, Anne ; Di Rocco, Maja ; Donnai, Dian ; Hennekam, Raoul ; Heron, Delphine ; Jacquemont, Sébastien ; Kannu, Peter ; Lin, Angela E ; Manouvrier-Hanu, Sylvie ; Mansour, Sahar ; Marlin, Sandrine ; McGowan, Ruth ; Murphy, Helen ; Raas-Rothschild, Annick ; Rio, Marlène ; Simon, Marleen ; Stolte-Dijkstra, Irene ; Stone, James R ; Sznajer, Yves ; Tolmie, John ; Touraine, Renaud ; van den Ende, Jenneke ; Van der Aa, Nathalie ; van Essen, Ton ; Verloes, Alain ; Munnich, Arnold ; Cormier-Daire, Valérie
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-11, Vol.22 (11), p.1272-1277
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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
Author / Creator:Rouzier, Cécile ; Chaussenot, Annabelle ; Serre, Valérie ; Fragaki, Konstantina ; Bannwarth, Sylvie ; Ait-El-Mkadem, Samira ; Attarian, Shahram ; Kaphan, Elsa ; Cano, Aline ; Delmont, Emilien ; Sacconi, Sabrina ; de Camaret, Bénédicte Mousson ; Rio, Marlène ; Lebre, Anne-Sophie ; Jardel, Claude ; Deschamps, Romain ; Richelme, Christian ; Pouget, Jean ; Chabrol, Brigitte ; Paquis-Flucklinger, Véronique
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.542-550
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Environmental Antimicrobial Resistance in a Small Urban Mediterranean River: A Focus on Endemic Beta-Lactamases in Clinically Relevant Bacteria
Author / Creator:Aujoulat, Fabien ; Ragot, Rose ; Toubiana, Mylène ; Bancon-Montigny, Chrystelle ; Monfort, Patrick ; Salles, Christian ; Masnou, Agnès ; Delpoux, Sophie ; Rio, Marlène ; Tournoud, Marie-George ; Marchand, Pierre ; Jumas-Bilak, Estelle ; Licznar-Fajardo, Patricia
Publisher:Basel: MDPI AG
Journal title:Water (Basel), 2021-08, Vol.13 (15), p.2010
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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

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Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome

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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

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A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

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

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Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders

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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

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High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency

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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

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

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Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

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Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

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Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients

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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

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Environmental Antimicrobial Resistance in a Small Urban Mediterranean River: A Focus on Endemic Beta-Lactamases in Clinically Relevant Bacteria

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