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

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases

外显子组测序可对 10% 的早发性或家族性系统性红斑狼疮病例进行分子诊断。

Tusseau, Maud; Khaldi-Plassart, Samira; Labalme, Audrey; Mathieu, Anne-Laure; Riller, Quentin; Molitor, Corentin; Simonet, Thomas; Viel, Sebastien; Gaboriaud, Christine; Thielens, Nicole; Heiser, Lionel; Chopin, Emilie; Rouvet, Isabelle; Fabien, Nicole; Goncalves, David; Fremeaux-Bacchi, Véronique; El-Sissy, Carine; Pottier, Nicolas; Larrue, Romain; Ranchin, Bruno; Laurent, Audrey; Fouillet-Desjonqueres, Marine; Jouret, Maurine; Mekinian, Arsène; Yamashita, Motoi; Morio, Tomohiro; Hachulla, Eric; Melki, Isabelle; Kone-Paut, Isabelle; Ballot, Claire; Reumaux, Heloise; Pillet, Pascal; Harambat, Jerome; Richez, Christophe; Richer, Olivier; Hatchuel, Yves; Louillet, Ferielle; Lega, Jean-Christophe; Durieu, Isabelle; Welfringer-Morin, Anne; Picard, Capucine; Messadi, Wassila; Sarrot-Reynauld, Françoise; Sanlaville, Damien; Bader-Meunier, Brigitte; Walzer, Thierry; Lesca, Gaëtan; Rieux-Laucat, Frédéric; Belot, Alexandre

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

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

CIROZ在脊椎动物祖先中并非必需,但对人类的左右模式形成至关重要。

Emmanuelle Szenker-Ravi ,Tim Ott ,Amirah Yusof ,Maya Chopra ,Muznah Khatoo ,Beatrice Pak ,Wei Xuan Goh ,Anja Beckers ,Angela F Brady ,Lisa J Ewans ,Nabila Djaziri ,Naif A M Almontashiri ,Malak Ali Alghamdi ,Essa Alharby ,Majed Dasouki ,Lindsay Romo ,Wen-Hann Tan ,Sateesh Maddirevula ,Fowzan S Alkuraya ,Jessica L Giordano ,Anna Alkelai ,Ronald J Wapner ,Karen Stals ,Majid Alfadhel ,Abdulrahman Faiz Alswaid ,Susanne Bogusch ,Anna Schafer-Kosulya ,Sebastian Vogel ,Philipp Vick ,Axel Schweickert ,Matthew Wakeling ,Anne Moreau de Bellaing ,Aisha M Alshamsi ,Damien Sanlaville ,Hamdi Mbarek ,Chadi Saad ,Sian Ellard ,Frank Eisenhaber ,Kornelia Tripolszki ,Christian Beetz ,Peter Bauer ,Achim Gossler ,Birgit Eisenhaber ,Martin Blum ,Patrice Bouvagnet ,Aida Bertoli-Avella ,Jeanne Amiel ,Christopher T Gordon ,Bruno Reversade

View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children

医疗保健专业人员对超快速基因组测序及其在危重儿童临床实践中未来应用的看法

Caillot, Claire; Javouhey, Etienne; Hays, Stéphane; Gouy, Evan; Monin, Pauline; Lesca, Gaetan; Sanlaville, Damien; Chatron, Nicolas

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

法国多中心队列研究中2563例癫痫患者接受基因诊断的临床和遗传特征

de Sainte Agathe, Jean-Madeleine; Monin, Pauline; Riccardi, Florence; Nava, Caroline; Arnaud, Lionel; Mignot, Cyril; Ville, Dorothée; Auvin, Stéphane; Tardieu, Sandrine; Larcher, Kathy; Gourfinkel-An, Isabelle; Canon, Mathilde; Navarro, Vincent; Héron, Bénédicte; Julia, Sophie; Doummar, Diane; Jacquemont, Marie-Line; Maurey, Hélène; Dozières-Puyravel, Blandine; Perrin, Laurence; Pasquier, Laurent; Dubourg, Christèle; Odent, Sylvie; Bouazzaoui, Abdelhakim; Carre, Wilfrid; Fradin, Mélanie; Demurger, Florence; Chatron, Nicolas; Sanlaville, Damien; Essid, Miriam; Portes, Vincent des; Panagiotakaki, Eleni; Poulat, Anne-Lise; Rivier, Clotilde; Sarret, Catherine; Remerand, Ganaëlle; Altuzarra, Cecilia; Stoeva, Radka; Nguyen, Sylvie; Piard, Juliette; Boucher, Élise; Flurin, Vincent; Guerrot, Anne-Marie; Joriot, Sylvie; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Camus, Caroline Hachon-Le; Villard, Laurent; Faoucher, Marie; Milh, Mathieu; Lesca, Gaëtan; Leguern, Éric

Transposable element expression is associated with sex chromosome number in humans

转座元件的表达与人类的性染色体数目相关。

Teoli, Jordan; Merenciano, Miriam; Fablet, Marie; Necsulea, Anamaria; Siqueira-de-Oliveira, Daniel; Brandulas-Cammarata, Alessandro; Labalme, Audrey; Lejeune, Hervé; Lemaitre, Jean-François; Gueyffier, François; Sanlaville, Damien; Bardel, Claire; Vieira, Cristina; Marais, Gabriel Ab; Plotton, Ingrid

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome

转录组长读长测序揭示突尼斯科尔舒特-滕茨综合征家族中一种新型ROGDI剪接变异体的分子复杂性

Essid, Miriam; Karoui, Sana; Zribi, Mouna; Ben Younes, Thouraya; Januel, Louis; Lafont, Estelle; Labalme, Audrey; Ben Hafsa, Meriem; Hun Seo, Go; Khatrouch, Safa; Boudabous, Hela; Ben Chehida, Amel; Sanlaville, Damien; Jilani, Houweyda; Benjemaa, Lamia; Kraoua, Ichraf; Lesca, Gaetan; Chatron, Nicolas

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene

由 lncRNA 基因 CHASERR 缺失引起的神经发育障碍

Ganesh, Vijay S; Riquin, Kevin; Chatron, Nicolas; Yoon, Esther; Lamar, Kay-Marie; Aziz, Miriam C; Monin, Pauline; O'Leary, Melanie C; Goodrich, Julia K; Garimella, Kiran V; England, Eleina; Weisburd, Ben; Aguet, François; Bacino, Carlos A; Murdock, David R; Dai, Hongzheng; Rosenfeld, Jill A; Emrick, Lisa T; Ketkar, Shamika; Sarusi, Yael; Sanlaville, Damien; Kayani, Saima; Broadbent, Brian; Pengam, Alisée; Isidor, Bertrand; Bezieau, Stéphane; Cogné, Benjamin; MacArthur, Daniel G; Ulitsky, Igor; Carvill, Gemma L; O'Donnell-Luria, Anne

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

DNA甲基化分析在遗传未明的儿童癫痫诊断中的应用及CHD2表观遗传特征的完善

LaFlamme, Christy W; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E; Russ-Hall, Sophie J; Schneider, Amy L; Bonkowski, Emily S; Almanza Fuerte, Edith P; Allan, Talia J; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B; Nyaga, Denis M; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V; Darnell, Daniel; Olsen, Scott R; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L; Gupta, Sachin; Jones, Elizabeth A; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C; Rosenfeld, Jill A; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L; Wang, Zhaoming; Berkovic, Samuel F; Sadleir, Lynette G; Miller, Danny E; Scheffer, Ingrid E; Sadikovic, Bekim; Mefford, Heather C

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

人们获取ES次要研究结果的期望、需求和中期结果:法国第一项混合研究(FIND研究)

Viora-Dupont, Eléonore; Robert, Françoise; Chassagne, Aline; Pélissier, Aurore; Staraci, Stéphanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sébastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Héron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence