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1.

Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.

Lenglez, Sandrine; Sablon, Ariane; Fénelon, Gilles; Boland, Anne; Deleuze, Jean-François; Boutoleau-Bretonnière, Claire; Nicolas, Gaël; Demoulin, Jean-Baptiste.

Hum Mol Genet ; 31(3): 399-409, 2022 02 03.

Artículo en Inglés | MEDLINE | ID: mdl-34494111

2.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K M; Rooney, Kathleen; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M; Vissers, Lisenka E L M; de Vries, Bert B A; Pfundt, Rolph; Elting, Mariet W; van Hagen, Johanna M; Verbeek, Nienke E; Jongmans, Marjolijn C J; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G M; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E; Ounap, Katrin; Hoffer, Mariëtte J V; Nezarati, Marjan M; van den Boogaard, Marie-José H; Tedder, Matthew L; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.

Hum Genet ; 2024 May 24.

Artículo en Inglés | MEDLINE | ID: mdl-38787418

3.

Recent advances in Alzheimer disease genetics.

Nicolas, Gaël.

Curr Opin Neurol ; 37(2): 154-165, 2024 04 01.

Artículo en Inglés | MEDLINE | ID: mdl-38235704

4.

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouvé, Chloé; Amiel, Jeanne; Attié-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; McConkey, Haley; Michaud, Vincent; Nicolas, Gaël; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlène; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie.

Genet Med ; 26(1): 101007, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37860968

5.

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

Nicolas, Gaël; Zaréa, Aline; Lacour, Morgane; Quenez, Olivier; Rousseau, Stéphane; Richard, Anne-Claire; Bonnevalle, Antoine; Schramm, Catherine; Olaso, Robert; Sandron, Florian; Boland, Anne; Deleuze, Jean-François; Andriuta, Daniela; Anthony, Pierre; Auriacombe, Sophie; Balageas, Anna-Chloé; Ballan, Guillaume; Barbay, Mélanie; Béjot, Yannick; Belliard, Serge; Benaiteau, Marie; Bennys, Karim; Bombois, Stéphanie; Boutoleau-Bretonnière, Claire; Branger, Pierre; Carlier, Jasmine; Cartz-Piver, Leslie; Cassagnaud, Pascaline; Ceccaldi, Mathieu-Pierre; Chauviré, Valérie; Chen, Yaohua; Cogez, Julien; Cognat, Emmanuel; Contegal-Callier, Fabienne; Corneille, Léa; Couratier, Philippe; Cretin, Benjamin; Crinquette, Charlotte; Dauriat, Benjamin; Dautricourt, Sophie; de la Sayette, Vincent; de Liège, Astrid; Deffond, Didier; Demurger, Florence; Deramecourt, Vincent; Derollez, Céline; Dionet, Elsa; Doco Fenzy, Martine; Dumurgier, Julien; Dutray, Anaïs.

Genet Med ; 26(5): 101082, 2024 May.

Artículo en Inglés | MEDLINE | ID: mdl-38281098

6.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Deshwar, Ashish R; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P; Noche, Ramil; Walker, Suzi; Scherer, Stephen W; Mahida, Sonal; Elitt, Christopher M; Nicolas, Gaël; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M; Drayson, Lucy; Barañano, Kristin W; Chassevent, Anna; Agre, Katie; Létard, Pascaline; Bilan, Frederic; Le Guyader, Gwenaël; Laquerrière, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L P; Blaser, Susan; Dowling, James J; Weksberg, Rosanna.

Brain ; 146(6): 2285-2297, 2023 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-36477332

7.

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Vezain, Myriam; Thauvin-Robinet, Christel; Vial, Yoann; Coutant, Sophie; Drunat, Séverine; Urtizberea, Jon Andoni; Rolland, Anne; Jacquin-Piques, Agnès; Fehrenbach, Séverine; Nicolas, Gaël; Lecoquierre, François; Saugier-Veber, Pascale.

Hum Genet ; 142(1): 125-138, 2023 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-36138164

8.

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Lecoquierre, François; Quenez, Olivier; Fourneaux, Steeve; Coutant, Sophie; Vezain, Myriam; Rolain, Marion; Drouot, Nathalie; Boland, Anne; Olaso, Robert; Meyer, Vincent; Deleuze, Jean-François; Dabbagh, Dana; Gilles, Isabelle; Gayet, Claire; Saugier-Veber, Pascale; Goldenberg, Alice; Guerrot, Anne-Marie; Nicolas, Gaël.

Hum Genet ; 142(6): 773-783, 2023 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-37076692

9.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Aref-Eshghi, Erfan; Kerkhof, Jennifer; Pedro, Victor P; Barat-Houari, Mouna; Ruiz-Pallares, Nathalie; Andrau, Jean-Christophe; Lacombe, Didier; Van-Gils, Julien; Fergelot, Patricia; Dubourg, Christèle; Cormier-Daire, Valerie; Rondeau, Sophie; Lecoquierre, François; Saugier-Veber, Pascale; Nicolas, Gaël; Lesca, Gaetan; Chatron, Nicolas; Sanlaville, Damien; Vitobello, Antonio; Faivre, Laurence; Thauvin-Robinet, Christel; Laumonnier, Frederic; Raynaud, Martine; Alders, Mariëlle; Mannens, Marcel; Henneman, Peter; Hennekam, Raoul C; Velasco, Guillaume; Francastel, Claire; Ulveling, Damien; Ciolfi, Andrea; Pizzi, Simone; Tartaglia, Marco; Heide, Solveig; Héron, Delphine; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Afenjar, Alexandra; Bienvenu, Thierry; Campeau, Philippe M; Rousseau, Justine; Levy, Michael A; Brick, Lauren; Kozenko, Mariya; Balci, Tugce B; Siu, Victoria Mok; Stuart, Alan; Kadour, Mike; Masters, Jennifer.

Am J Hum Genet ; 106(3): 356-370, 2020 03 05.

Artículo en Inglés | MEDLINE | ID: mdl-32109418

10.

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Duval, Romain; Nicolas, Gaël; Willemetz, Alexandra; Murakami, Yoshiko; Mikdar, Mahmoud; Vrignaud, Cedric; Megahed, Hisham; Cartron, Jean-Pierre; Masson, Cecile; Wehbi, Samer; Koehl, Bérengere; Hully, Marie; Siquier, Karine; Chemlay, Nicole; Rotig, Agnes; Lyonnet, Stanislas; Colin, Yves; Barcia, Giulia; Cantagrel, Vincent; Le Van Kim, Caroline; Hermine, Olivier; Kinoshita, Taroh; Peyrard, Thierry; Azouzi, Slim.

Blood ; 137(26): 3660-3669, 2021 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-33763700

11.

Prenatal Alcohol Exposure Impairs the Placenta-Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways.

Sautreuil, Camille; Lecointre, Maryline; Derambure, Céline; Brasse-Lagnel, Carole; Leroux, Philippe; Laquerrière, Annie; Nicolas, Gaël; Gil, Sophie; Savage, Daniel D; Marret, Stéphane; Marguet, Florent; Falluel-Morel, Anthony; Gonzalez, Bruno J.

Int J Mol Sci ; 24(17)2023 Aug 30.

Artículo en Inglés | MEDLINE | ID: mdl-37686296

12.

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Coursimault, Juliette; Rovelet-Lecrux, Anne; Cassinari, Kévin; Brischoux-Boucher, Elise; Saugier-Veber, Pascale; Goldenberg, Alice; Lecoquierre, François; Drouot, Nathalie; Richard, Anne-Claire; Vera, Gabriella; Coutant, Sophie; Quenez, Olivier; Rolain, Marion; Bonnet, Céline; Bronner, Myriam; Lecourtois, Magalie; Nicolas, Gaël.

Hum Mutat ; 43(9): 1239-1248, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35446447

13.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Coursimault, Juliette; Cassinari, Kévin; Lecoquierre, François; Quenez, Olivier; Coutant, Sophie; Derambure, Céline; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anaïs; Doray, Bérénice; Lambert, Laëtitia; Ghoumid, Jamal; Smol, Thomas; Rama, Mélanie; Legendre, Marine; Lacombe, Didier; Fergelot, Patricia; Olaso, Robert; Boland, Anne; Deleuze, Jean-François; Goldenberg, Alice; Saugier-Veber, Pascale; Nicolas, Gaël.

Hum Mutat ; 43(12): 1882-1897, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-35842780

14.

The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover.

Rondelli, Catherine M; Perfetto, Mark; Danoff, Aidan; Bergonia, Hector; Gillis, Samantha; O'Neill, Leah; Jackson, Laurie; Nicolas, Gael; Puy, Herve; West, Richard; Phillips, John D; Yien, Yvette Y.

J Biol Chem ; 297(2): 100972, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-34280433

15.

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.

Mirmiran, Arienne; Schmitt, Caroline; Lefebvre, Thibaud; Manceau, Hana; Daher, Raêd; Oustric, Vincent; Poli, Antoine; Lacapère, Jean-Jacques; Moulouel, Boualem; Puy, Hervé; Karim, Zoubida; Peoc'h, Katell; Lenglet, Hugo; Simonin, Sylvie; Deybach, Jean-Charles; Nicolas, Gaël; Gouya, Laurent.

Am J Hum Genet ; 104(2): 341-347, 2019 02 07.

Artículo en Inglés | MEDLINE | ID: mdl-30712775

16.

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.

Yauy, Kevin; Lecoquierre, François; Baert-Desurmont, Stéphanie; Trost, Detlef; Boughalem, Aicha; Luscan, Armelle; Costa, Jean-Marc; Geromel, Vanna; Raymond, Laure; Richard, Pascale; Coutant, Sophie; Broutin, Mélanie; Lanos, Raphael; Fort, Quentin; Cackowski, Stenzel; Testard, Quentin; Diallo, Abdoulaye; Soirat, Nicolas; Holder, Jean-Marc; Duforet-Frebourg, Nicolas; Bouge, Anne-Laure; Beaumeunier, Sacha; Bertrand, Denis; Audoux, Jerome; Genevieve, David; Mesnard, Laurent; Nicolas, Gael; Thevenon, Julien; Philippe, Nicolas.

Genet Med ; 24(6): 1316-1327, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35311657

17.

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation.

Azouzi, Slim; Mikdar, Mahmoud; Hermand, Patricia; Gautier, Emilie-Fleur; Salnot, Virginie; Willemetz, Alexandra; Nicolas, Gaël; Vrignaud, Cédric; Raneri, Alexandre; Mayeux, Patrick; Bole-Feysot, Christine; Nitschké, Patrick; Cartron, Jean-Pierre; Colin, Yves; Hermine, Olivier; Jedlitschky, Gabriele; Cloutier, Marc; Constanzo-Yanez, Jessica; Ethier, Carole; Robitaille, Nancy; St-Louis, Maryse; Le Van Kim, Caroline; Peyrard, Thierry.

Blood ; 135(6): 441-448, 2020 02 06.

Artículo en Inglés | MEDLINE | ID: mdl-31826245

18.

Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis.

López-Sánchez, Uriel; Tury, Sandrine; Nicolas, Gaël; Wilson, Miranda S; Jurici, Snejana; Ayrignac, Xavier; Courgnaud, Valérie; Saiardi, Adolfo; Sitbon, Marc; Battini, Jean-Luc.

J Biol Chem ; 295(28): 9366-9378, 2020 07 10.

Artículo en Inglés | MEDLINE | ID: mdl-32393577

19.

Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.

Wallon, David; Boluda, Susana; Rovelet-Lecrux, Anne; Thierry, Manon; Lagarde, Julien; Miguel, Laetitia; Lecourtois, Magalie; Bonnevalle, Antoine; Sarazin, Marie; Bottlaender, Michel; Mula, Mathieu; Marty, Serge; Nakamura, Natsuko; Schramm, Catherine; Sellal, François; Jonveaux, Thérèse; Heitz, Camille; Le Ber, Isabelle; Epelbaum, Stéphane; Magnin, Eloi; Zarea, Aline; Rousseau, Stéphane; Quenez, Olivier; Hannequin, Didier; Clavaguera, Florence; Campion, Dominique; Duyckaerts, Charles; Nicolas, Gaël.

Acta Neuropathol ; 142(2): 259-278, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-34095977

20.

Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.

Balck, Alexander; Schaake, Susen; Kuhnke, Neele Sophie; Domingo, Aloysius; Madoev, Harutyun; Margolesky, Jason; Dobricic, Valerija; Alvarez-Fischer, Daniel; Laabs, Björn-Hergen; Kasten, Meike; Luo, Wei; Nicolas, Gael; Marras, Connie; Lohmann, Katja; Klein, Christine; Westenberger, Ana.

Mov Disord ; 36(11): 2468-2480, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34432325

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