日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

在自闭症谱系障碍患者中发现了KDM5A的单等位基因和双等位基因变异。

El Hayek Lauretta, Gogate Ashlesha, Chen Wei-Chen, Kaur Kiran, Zaki Maha S, De Wachter Matthias, Van Schil Kristof, Dublin-Ryan Leeran, Zamani Mina, Bartos Meghan N, Hiatt Susan M, Courdier Cécile, Michaud Vincent, Kenny Janna, Day Michael, Pang Lewis, Nasab Mahya Ebrahimi, Madani Manshadi Seyed Ali, Eslahi Atieh, Rasoul Masoomeh Ale, Sanchez-Mendoza Eduardo Humberto, DeLuca Charles, Marafi Dana, Stevens Servi J C, Ivanovski Ivan, Frey Tanja, Steindl Katharina, Rauch Anita, O'Connor Kaitlyn, Velinov Milen, Shen Xiaoming, Janssen Etienne J M, Sedighzadeh Sahar, Kordi-Tamandani Dor Mohammad, Khajeh Ali, Elshafie Reem M, Bastaki Laila, Misra Vinod K, Firoozfar Zahra, Goldenberg Paula C, Toosi Mehran Beiraghi, Mojarrad Majid, Kavanagh Karl, Koboldt Daniel C, Margot Henri, Hurst Anna C E, Weber Axel, Bergmann Carsten, Houlden Henry, Maroofian Reza, Weis Denisa, Ceulemans Berten, Chahrour Maria H

Genomic analysis of putative hybrids between Potamochoerus spp. and domestic pigs from sympatric areas in West Africa and Madagascar

对来自西非和马达加斯加同域分布区的河豚属(Potamochoerus spp.)与家猪的疑似杂交种进行基因组分析

Rakotoarivony, Rianja; Mary, Nicolas; Bahleman, Farid; Beckmann, Jörg; Blome, Sandra; Friedrichs, Virginia; Oebel, Horst; Jourdan-Pineau, Hélène; Mamiarisoa, Anjaranirina Marcel; Michaud, Vincent; Michaux, Johan; Netherton, Christopher L; Raliniaina, Modestine; Randriamparany, Tantely; Zouaoui, Anissa; Massanas, Ferran Jori

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

在法国医疗保健体系中,以基因组测序诊断智力障碍作为罕见病诊断的范例:前瞻性 DEFIDIAG 研究

El Chehadeh, Salima; Heide, Solveig; Quélin, Chloé; Rio, Marlène; Margot, Henri; Geneviève, David; Isidor, Bertrand; Goldenberg, Alice; Guégan, Caroline; Lesca, Gaëtan; Willems, Marjolaine; Ormières, Clothilde; Caumes, Roseline; Busa, Tiffany; Bonneau, Dominique; Guerrot, Anne-Marie; Marey, Isabelle; Vera, Gabriella; Marzin, Pauline; Philippe, Anaïs; Garde, Aurore; Coubes, Christine; Vincent, Marie; Michaud, Vincent; Mignot, Cyril; Charles, Perrine; Sigaudy, Sabine; Edery, Patrick; Lacombe, Didier; Boland, Anne; Nowak, Frédérique; Bouctot, Marion; Humbert-Asensio, Marie-Laure; Simon, Alban; Chennen, Kirsley; Sabour, Niki; Delmas, Christelle; Nicolas, Gaël; Saugier-Veber, Pascale; Lecoquierre, François; Cassinari, Kévin; Keren, Boris; Courtin, Thomas; De Sainte Agathe, Jean-Madeleine; Malan, Valérie; Barcia, Giulia; Tran Mau-Them, Frédéric; Safraou, Hana; Philippe, Christophe; Thévenon, Julien; Chatron, Nicolas; Januel, Louis; Piton, Amélie; Haushalter, Virginie; Gérard, Bénédicte; Lejeune, Catherine; Faivre, Laurence; Sanlaville, Damien; Héron, Delphine; Odent, Sylvie; Nitschké, Patrick; Schluth-Bolard, Caroline; Lyonnet, Stanislas; Deleuze, Jean-François; Binquet, Christine; Dollfus, Hélène

Phenotype Spectrum of TRPM3-Associated Disorders

TRPM3相关疾病的表型谱

Jolitz, Laura; Helbig, Ingo; Fitzgerald, Mark P; McKeown Ruggiero, Sarah; Cohen, Stacey; Angelini, Chloe; Vallespin, Elena; Michaud, Vincent; Gerasimenko, Anna; Cogne, Benjamin; Isidor, Bertrand; Keren, Boris; Dyment, David; Heron, Delphine; Karstensen, Helena Gásdal; Cuppen, Inge; Christodoulou, John; Wilson, Meredith; Lake, Nicole J; Biskup, Saskia; Syrbe, Steffen; Mori, Takayasu; Becker, Lena-Luise; Kaindl, Angela M

Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome

探索RBFOX2单倍体功能不全:与左心发育不全综合征的新遗传联系

Sauvestre, Clément; Bouchatal, Amel; Beneteau, Claire; Michaud, Vincent; Blanc, Pierre; Bouvagnet, Patrice; Chung, Wendy K; Marcadier, Julien; Thomas, Mary Ann; Karstensen, Helena Gásdal; Born, Alfred Peter; Breen, Catherine; Xiong, Shiyi; Ades, Lesley C; Dixit, Abhijit; Fradin, Mélanie; Rooryck, Caroline

Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8

眼皮肤白化病8型中的视交叉交叉

Rateaux, Maxence; Hadj-Rabia, Smaïl; Barrois, Rémi; Zambrowski, Olivia; Michaud, Vincent; Moreno-Artero, Ester; Bremond-Gignac, Dominique; Javerzat, Sophie; Robert, Matthieu P

A patient with TPCN2-related hypopigmentation and ocular phenotype

一名患有TPCN2相关色素减退和眼部表型的患者

Courdier, Cécile; Michaud, Vincent; Diallo, Modibo; Plaisant, Claudio; Lasseaux, Eulalie; Helot, Isabelle; Philippe, Elodie; Vrielynck, Els; Willems, Marjolaine; Arveiler, Benoit

From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation

从苍白到白化病:OCA2 外显子 10 跳跃对色素减退的影响

Mercier, Elina; Trégouët, David-Alexandre; Campagne, Sébastien; Michaud, Vincent; Green, David J; Mesdaghi, Shahram; Le Gallais, Orane; Jouannigot-Castano, Orphée; Rigden, Daniel J; Estay-Ahumada, Catherine; Hicks, David; Sergouniotis, Panagiotis I; Arveiler, Benoit; Javerzat, Sophie

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

TYR 和 OCA2 基因的遗传变异同时出现会使个体易患白化病。

Green, David J; Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Fitzgerald, Tomas; Birney, Ewan; Black, Graeme C; Arveiler, Benoît; Sergouniotis, Panagiotis I