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

CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus

CNV-Hub:一个基于多算法共识的集成式网络平台,用于CNV分类和解释。

Pillay, Vignesh Guru Victor; Mosca, Anne-Laure; Callegarin, Davide; Marle, Nathalie; Moro, Tristan; Opale, Mélodie; Maaziz, Nada; Egea, Gregory; Payet, Muriel; Ragon, Clémence; Mosnier, Julia; Bouzenard, Alison; Aho, Ludwig Serge; Faivre, Laurence; Callier, Patrick

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort

法国人群中严重非综合征性特定学习和语言障碍的外显子组测序

Viora-Dupont, Eléonore; Delanne, Julian; Garde, Aurore; Nambot, Sophie; Colin, Estelle; Bournez, Marie; Fauconnier-Fatus, Clémence; Racine, Caroline; Simao De Souza, Clément; Bernard, Céline; Maurer, Agnès; Espitalier, Aurélie; Binquet, Christine; Bouctot, Marion; Humbert, Marie-Laure; Briffaut, Anne-Sophie; Darmency, Véronique; Plumet, Patricia; Cotinaud-Ricou, Audrey; Relin, Noémie; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Tran Mau-Them, Frederic; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Vitobello, Antonio; Philippe, Christophe; Duffourd, Yannis; Bruel, Ange-Line; Thauvin-Robinet, Christel; Faivre, Laurence

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

SRSF1单倍体不足是导致一种与智力障碍相关的综合征性发育障碍的原因。

Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

1p36缺失综合征:回顾和定位,并进一步表征其表型,一项包含86例患者的新队列研究

Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot-Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; Dupont, Jean-Michel; Gatinois, Vincent; Gruchy, Nicolas; Guterman, Sarah; Heddar, Abdelkader; Herissant, Lucas; Heron, Delphine; Isidor, Bertrand; Jaeger, Pauline; Jouret, Guillaume; Keren, Boris; Kuentz, Paul; Le Caignec, Cedric; Levy, Jonathan; Lopez, Nathalie; Manssens, Zoe; Martin-Coignard, Dominique; Marey, Isabelle; Mignot, Cyril; Missirian, Chantal; Pebrel-Richard, Céline; Pinson, Lucile; Puechberty, Jacques; Redon, Sylvia; Sanlaville, Damien; Spodenkiewicz, Marta; Tabet, Anne-Claude; Verloes, Alain; Vieville, Gaelle; Yardin, Catherine; Vialard, François; Doco-Fenzy, Martine

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

将“极端表型方法”应用于男性乳腺癌,可以识别出ATR的罕见变异体,这些变异体可能是乳腺癌的易感基因。

Chevarin, Martin; Alcantara, Diana; Albuisson, Juliette; Collonge-Rame, Marie-Agnès; Populaire, Céline; Selmani, Zohair; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Callier, Patrick; Duffourd, Yannis; Jonveaux, Philippe; Bignon, Yves-Jean; Coupier, Isabelle; Cornelis, François; Cordier, Christophe; Mozelle-Nivoix, Monique; Rivière, Jean-Baptiste; Kuentz, Paul; Thauvin, Christel; Boidot, Romain; Ghiringhelli, François; O'Driscoll, Marc; Faivre, Laurence; Nambot, Sophie

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

Hi-C 与短读长和长读长基因组测序相结合,揭示了生殖系重排基因组的结构。

Schöpflin, Robert; Melo, Uirá Souto; Moeinzadeh, Hossein; Heller, David; Laupert, Verena; Hertzberg, Jakob; Holtgrewe, Manuel; Alavi, Nico; Klever, Marius-Konstantin; Jungnitsch, Julius; Comak, Emel; Türkmen, Seval; Horn, Denise; Duffourd, Yannis; Faivre, Laurence; Callier, Patrick; Sanlaville, Damien; Zuffardi, Orsetta; Tenconi, Romano; Kurtas, Nehir Edibe; Giglio, Sabrina; Prager, Bettina; Latos-Bielenska, Anna; Vogel, Ida; Bugge, Merete; Tommerup, Niels; Spielmann, Malte; Vitobello, Antonio; Kalscheuer, Vera M; Vingron, Martin; Mundlos, Stefan

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants

OMIXCARE:组学技术解决了约 33% 的患有异质性罕见神经发育障碍且外显子组测序结果为阴性的患者的问题,并识别出 13% 的额外候选变异。

Colin, Estelle; Duffourd, Yannis; Tisserant, Emilie; Relator, Raissa; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Delanne, Julian; Jean-Marçais, Nolwenn; Keren, Boris; Isidor, Bertrand; Vincent, Marie; Mignot, Cyril; Heron, Delphine; Afenjar, Alexandra; Heide, Solveig; Faudet, Anne; Charles, Perrine; Odent, Sylvie; Herenger, Yvan; Sorlin, Arthur; Moutton, Sébastien; Kerkhof, Jennifer; McConkey, Haley; Chevarin, Martin; Poë, Charlotte; Couturier, Victor; Bourgeois, Valentin; Callier, Patrick; Boland, Anne; Olaso, Robert; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Faivre, Laurence; Deleuze, Jean-François; Vitobello, Antonio

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells

从携带复杂遗传异常的不育男性体内获得的诱导多能干细胞(iPSCs)可以生成原始生殖样细胞。

Mouka, Aurélie; Arkoun, Brahim; Moison, Pauline; Drévillon, Loïc; Jarray, Rafika; Brisset, Sophie; Mayeur, Anne; Bouligand, Jérôme; Boland-Auge, Anne; Deleuze, Jean-François; Yates, Frank; Lemonnier, Thomas; Callier, Patrick; Duffourd, Yannis; Nitschke, Patrick; Ollivier, Emmanuelle; Bourdin, Arnaud; De Vos, John; Livera, Gabriel; Tachdjian, Gérard; Maouche-Chrétien, Leïla; Tosca, Lucie