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

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

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

染色质构象捕获技术在临床中的应用:4C-seq/HiC 可区分 GPR101 位点的致病性重复和中性重复

Daly, Adrian F; Dunnington, Leslie A; Rodriguez-Buritica, David F; Spiegel, Erica; Brancati, Francesco; Mantovani, Giovanna; Rawal, Vandana M; Faucz, Fabio Rueda; Hijazi, Hadia; Caberg, Jean-Hubert; Nardone, Anna Maria; Bengala, Mario; Fortugno, Paola; Del Sindaco, Giulia; Ragonese, Marta; Gould, Helen; Cannavò, Salvatore; Pétrossians, Patrick; Lania, Andrea; Lupski, James R; Beckers, Albert; Stratakis, Constantine A; Levy, Brynn; Trivellin, Giampaolo; Franke, Martin

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

选择性交配和父母遗传相关性导致可变表达变异的致病性

Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope

COVID-associated complications after reconstructive breast surgery: a retrospective cohort study

COVID-19相关并发症在乳房重建手术后的影响:一项回顾性队列研究

Bubberman, J M; Claessen, J; Feijen, M M W; Meesters-Caberg, M A J; Van Kuijk, S M J; Van der Hulst, R R W J; Tuinder, S M H

HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome

HIDEA综合征:一例新病例报告,强调其与ROHHAD综合征的相似之处

Harvengt, J; Lumaka, A; Fasquelle, C; Caberg, J H; Mastouri, M; Janssen, A; Palmeira, L; Bours, V

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

选择性交配和父母遗传相关性驱动可变表达变异的致病性

Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

BCKDK 中的新型功能丧失变异可导致可治疗的发育性和癫痫性脑病

François Boemer, Claire Josse, Géraldine Luis, Emmanuel Di Valentin, Jérôme Thiry, Christophe Cello, Jean-Hubert Caberg, Caroline Dadoumont, Julie Harvengt, Aimé Lumaka, Vincent Bours, François-Guillaume Debray

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

比利时南部为期三年的脊髓性肌萎缩症新生儿筛查试点项目已正式启动。

Boemer, François; Caberg, Jean-Hubert; Beckers, Pablo; Dideberg, Vinciane; di Fiore, Samantha; Bours, Vincent; Marie, Sandrine; Dewulf, Joseph; Marcelis, Lionel; Deconinck, Nicolas; Daron, Aurore; Blasco-Perez, Laura; Tizzano, Eduardo; Hiligsmann, Mickaël; Lombet, Jacques; Pereira, Tatiana; Lopez-Granados, Lucia; Shalchian-Tehran, Sarvnaz; van Assche, Véronique; Willems, Arabelle; Huybrechts, Sofie; Mast, Bénédicte; van Olden, Rudolf; Dangouloff, Tamara; Servais, Laurent

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

评估 15Q11.2 BP1-BP2 缺失的影响程度及其对神经发育症状的影响:实践建议

Jønch, Aia Elise; Douard, Elise; Moreau, Clara; Van Dijck, Anke; Passeggeri, Marzia; Kooy, Frank; Puechberty, Jacques; Campbell, Carolyn; Sanlaville, Damien; Lefroy, Henrietta; Richetin, Sonia; Pain, Aurelie; Geneviève, David; Kini, Usha; Le Caignec, Cédric; Lespinasse, James; Skytte, Anne-Bine; Isidor, Bertrand; Zweier, Christiane; Caberg, Jean-Hubert; Delrue, Marie-Ange; Møller, Rikke Steensbjerre; Bojesen, Anders; Hjalgrim, Helle; Brasch-Andersen, Charlotte; Lemyre, Emmanuelle; Ousager, Lilian Bomme; Jacquemont, Sébastien

Surgical removal of fibrous axillary seroma pocket and closing of dead space using a lattisimus dorsi flap

手术切除腋窝纤维性浆液瘤囊袋,并使用背阔肌皮瓣封闭死腔。

van Bastelaar, J; van Roozendaal, L M; Meesters-Caberg, M