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

Population-based, first-tier genomic newborn screening in the maternity ward

在产科病房开展基于人群的新生儿基因组筛查

Boemer, François; Hovhannesyan, Kristine; Piazzon, Flavia; Minner, Frédéric; Mni, Myriam; Jacquemin, Valérie; Mashhadizadeh, Davood; Benmhammed, Noor; Bours, Vincent; Jacquinet, Adeline; Harvengt, Julie; Bulk, Saskia; Dideberg, Vinciane; Helou, Laura; Palmeira, Leonor; Dangouloff, Tamara; Servais, Laurent

Analytical Validation of a Genomic Newborn Screening Workflow

新生儿基因组筛查工作流程的分析验证

Hovhannesyan, Kristine; Helou, Laura; Charloteaux, Benoit; Jacquemin, Valerie; Piazzon, Flavia; Mni, Myriam; Flohimont, Charlotte; Fasquelle, Corinne; Mashhadizadeh, Davood; Dangouloff, Tamara; Bours, Vincent; Servais, Laurent; Palmeira, Leonor; Boemer, François

Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium

在比利时南部一家妇产医院开展采用靶向二代测序技术的新生儿筛查项目的可行性和可接受性研究

Dangouloff, Tamara; Hovhannesyan, Kristine; Mashhadizadeh, Davood; Minner, Frederic; Mni, Myriam; Helou, Laura; Piazzon, Flavia; Palmeira, Leonor; Boemer, François; Servais, Laurent

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility

大规模测序鉴定出多个与克罗恩病易感性相关的基因和罕见变异

Sazonovs, Aleksejs; Stevens, Christine R; Venkataraman, Guhan R; Yuan, Kai; Avila, Brandon; Abreu, Maria T; Ahmad, Tariq; Allez, Matthieu; Ananthakrishnan, Ashwin N; Atzmon, Gil; Baras, Aris; Barrett, Jeffrey C; Barzilai, Nir; Beaugerie, Laurent; Beecham, Ashley; Bernstein, Charles N; Bitton, Alain; Bokemeyer, Bernd; Chan, Andrew; Chung, Daniel; Cleynen, Isabelle; Cosnes, Jacques; Cutler, David J; Daly, Allan; Damas, Oriana M; Datta, Lisa W; Dawany, Noor; Devoto, Marcella; Dodge, Sheila; Ellinghaus, Eva; Fachal, Laura; Farkkila, Martti; Faubion, William; Ferreira, Manuel; Franchimont, Denis; Gabriel, Stacey B; Ge, Tian; Georges, Michel; Gettler, Kyle; Giri, Mamta; Glaser, Benjamin; Goerg, Siegfried; Goyette, Philippe; Graham, Daniel; Hämäläinen, Eija; Haritunians, Talin; Heap, Graham A; Hiltunen, Mikko; Hoeppner, Marc; Horowitz, Julie E; Irving, Peter; Iyer, Vivek; Jalas, Chaim; Kelsen, Judith; Khalili, Hamed; Kirschner, Barbara S; Kontula, Kimmo; Koskela, Jukka T; Kugathasan, Subra; Kupcinskas, Juozas; Lamb, Christopher A; Laudes, Matthias; Lévesque, Chloé; Levine, Adam P; Lewis, James D; Liefferinckx, Claire; Loescher, Britt-Sabina; Louis, Edouard; Mansfield, John; May, Sandra; McCauley, Jacob L; Mengesha, Emebet; Mni, Myriam; Moayyedi, Paul; Moran, Christopher J; Newberry, Rodney D; O'Charoen, Sirimon; Okou, David T; Oldenburg, Bas; Ostrer, Harry; Palotie, Aarno; Paquette, Jean; Pekow, Joel; Peter, Inga; Pierik, Marieke J; Ponsioen, Cyriel Y; Pontikos, Nikolas; Prescott, Natalie; Pulver, Ann E; Rahmouni, Souad; Rice, Daniel L; Saavalainen, Päivi; Sands, Bruce; Sartor, R Balfour; Schiff, Elena R; Schreiber, Stefan; Schumm, L Philip; Segal, Anthony W; Seksik, Philippe; Shawky, Rasha; Sheikh, Shehzad Z; Silverberg, Mark S; Simmons, Alison; Skeiceviciene, Jurgita; Sokol, Harry; Solomonson, Matthew; Somineni, Hari; Sun, Dylan; Targan, Stephan; Turner, Dan; Uhlig, Holm H; van der Meulen, Andrea E; Vermeire, Séverine; Verstockt, Sare; Voskuil, Michiel D; Winter, Harland S; Young, Justine; Duerr, Richard H; Franke, Andre; Brant, Steven R; Cho, Judy; Weersma, Rinse K; Parkes, Miles; Xavier, Ramnik J; Rivas, Manuel A; Rioux, John D; McGovern, Dermot P B; Huang, Hailiang; Anderson, Carl A; Daly, Mark J

Dual-specificity phosphatase 3 deletion promotes obesity, non-alcoholic steatohepatitis and hepatocellular carcinoma

双特异性磷酸酶3缺失会促进肥胖、非酒精性脂肪性肝炎和肝细胞癌的发生。

Jacques, Sophie; Arjomand, Arash; Perée, Hélène; Collins, Patrick; Mayer, Alice; Lavergne, Arnaud; Wéry, Marie; Mni, Myriam; Hego, Alexandre; Thuillier, Virginie; Becker, Guillaume; Bahri, Mohamed Ali; Plenevaux, Alain; Di Valentin, Emmanuel; Oury, Cécile; Moutschen, Michel; Delvenne, Philippe; Paquot, Nicolas; Rahmouni, Souad

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes

IBD 风险位点富含多基因调控模块,包括假定的致病基因

Yukihide Momozawa, Julia Dmitrieva, Emilie Théâtre, Valérie Deffontaine, Souad Rahmouni, Benoît Charloteaux, François Crins, Elisa Docampo, Mahmoud Elansary, Ann-Stephan Gori, Christelle Lecut, Rob Mariman, Myriam Mni, Cécile Oury, Ilya Altukhov, Dmitry Alexeev, Yuri Aulchenko, Leila Amininejad, Ger

Fine-mapping inflammatory bowel disease loci to single-variant resolution

将炎症性肠病基因位点精细定位至单变异分辨率

Huang, Hailiang; Fang, Ming; Jostins, Luke; Umićević Mirkov, Maša; Boucher, Gabrielle; Anderson, Carl A; Andersen, Vibeke; Cleynen, Isabelle; Cortes, Adrian; Crins, François; D'Amato, Mauro; Deffontaine, Valérie; Dmitrieva, Julia; Docampo, Elisa; Elansary, Mahmoud; Farh, Kyle Kai-How; Franke, Andre; Gori, Ann-Stephan; Goyette, Philippe; Halfvarson, Jonas; Haritunians, Talin; Knight, Jo; Lawrance, Ian C; Lees, Charlie W; Louis, Edouard; Mariman, Rob; Meuwissen, Theo; Mni, Myriam; Momozawa, Yukihide; Parkes, Miles; Spain, Sarah L; Théâtre, Emilie; Trynka, Gosia; Satsangi, Jack; van Sommeren, Suzanne; Vermeire, Severine; Xavier, Ramnik J; Weersma, Rinse K; Duerr, Richard H; Mathew, Christopher G; Rioux, John D; McGovern, Dermot P B; Cho, Judy H; Georges, Michel; Daly, Mark J; Barrett, Jeffrey C