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

Benchmark of computational methods to detect digenism in sequencing data

用于检测测序数据中基因型差异的计算方法基准测试

Ogloblinsky, Marie-Sophie C; Conrad, Donald F; Baudot, Anaïs; Tournier-Lasserve, Elisabeth; Génin, Emmanuelle; Marenne, Gaëlle

Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformations

儿童脑脊髓海绵状血管畸形的临床和分子特征

Benichi, Sandro; Balducci, Estelle; Benzakoun, Joseph; Ghannam, Boulos; Attieh, Christian; Metais, Alice; Bourgeois, Marie; Guida, Lelio; Kaltenbach, Sophie; Tauziede-Espariat, Arnault; Riant, Florence; Villarese, Patrick; Lefevre, Coline; Roux, Charles-Joris; Puget, Stéphanie; Naggara, Olivier; Oppenheim, Catherine; Nabbout, Rima; Boddaert, Nathalie; Beccaria, Kévin; Tournier-Lasserve, Elisabeth; Kossorotoff, Manoëlle; Varlet, Pascale; Asnafi, Vahid; Canaud, Guillaume; Blauwblomme, Thomas

PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

PSAP-基因组区域:一种利用群体数据对全基因组测序中的编码和非编码变异进行优先级排序以用于罕见病诊断的方法

Ogloblinsky, Marie-Sophie C; Bocher, Ozvan; Aloui, Chaker; Leutenegger, Anne-Louise; Ozisik, Ozan; Baudot, Anaïs; Tournier-Lasserve, Elisabeth; Castillo-Madeen, Helen; Lewinsohn, Daniel; Conrad, Donald F; Génin, Emmanuelle; Marenne, Gaëlle

Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case report

伴有脑白质病变的晚发性痴呆与COL4A2基因变异:因果关系还是偶然关联?病例报告

Garnier-Crussard, Antoine; Bani-Sadr, Alexandre; Quadrio, Isabelle; Formaglio, Maïté; Desestret, Virginie; Tournier-Lasserve, Elisabeth; Coste, Thibault

Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice

小鼠脑血管收缩力缺陷、淋巴系统功能障碍和神经退行性变是由Notch3的年龄相关性缺失引起的。

Romay, Milagros C; Knutsen, Russell H; Ma, Feiyang; Mompeón, Ana; Hernandez, Gloria E; Salvador, Jocelynda; Mirkov, Snezana; Batra, Ayush; Sullivan, David P; Procissi, Daniele; Buchanan, Samuel; Kronquist, Elise; Ferrante, Elisa A; Muller, William A; Walshon, Jordain; Steffens, Alicia; McCortney, Kathleen; Horbinski, Craig; Tournier-Lasserve, Elisabeth; Sonabend, Adam M; Sorond, Farzaneh A; Wang, Michael M; Boehm, Manfred; Kozel, Beth A; Iruela-Arispe, M Luisa

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease

COL4A1 3'UTR 中的 AluYa5 插入与脑小血管病

Aloui, Chaker; Neumann, Lisa; Bergametti, Françoise; Sartori, Eric; Herbreteau, Marc; Maillard, Arnaud; Coste, Thibault; Morel, Hélène; Hervé, Dominique; Chabriat, Hugues; Timsit, Serge; Viakhireva, Irina; Denoyer, Yves; Allibert, Rémi; Demurger, Florence; Gollion, Cedric; Vermersch, Patrick; Marchelli, Florence; Blugeon, Corinne; Lemoine, Sophie; Tourtier-Bellosta, Claire; Brouazin, Alexis; Leutenegger, Anne-Louise; Pipiras, Eva; Tournier-Lasserve, Elisabeth

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations

CCM2 cDNA杂合性缺失揭示了一种导致多发性脑海绵状血管畸形的结构变异

Chaussenot, Annabelle; Ayrignac, Xavier; Chatron, Nicolas; Granchon-Riolzir, Terry; Labauge, Pierre; Tournier-Lasserve, Elisabeth; Riant, Florence

Input of exome sequencing in early-onset cerebral amyloid angiopathy

外显子组测序在早发性脑淀粉样血管病中的应用

Grangeon, Lou; Charbonnier, Camille; Rousseau, Stéphane; Richard, Anne Claire; Quenez, Olivier; Zarea, Aline; Boland, Anne; Olaso, Robert; Deleuze, Jean-François; Tournier-Lasserve, Elisabeth; Nicolas, Gael; Wallon, David

Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease

编码钙激活氯离子通道的ANO1基因的罕见变异会使人易患烟雾病。

Pinard, Amélie; Ye, Wenlei; Fraser, Stuart M; Rosenfeld, Jill A; Pichurin, Pavel; Hickey, Scott E; Guo, Dongchuan; Cecchi, Alana C; Boerio, Maura L; Guey, Stéphanie; Aloui, Chaker; Lee, Kwanghyuk; Kraemer, Markus; Alyemni, Saleh Omar; Bamshad, Michael J; Nickerson, Deborah A; Tournier-Lasserve, Elisabeth; Haider, Shozeb; Jin, Sheng Chih; Smith, Edward R; Kahle, Kristopher T; Jan, Lily Yeh; He, Mu; Milewicz, Dianna M

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

ESAM紧密连接基因的双等位基因变异会导致一种与胎儿颅内出血相关的神经发育障碍。

Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R; Errichiello, Edoardo