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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

3D Printing of Air

空气的3D打印

Gupta, Deepak; Piva, Henrique Luis; Pal, Vaibhav; Liu, Suihong; Rizvi, Syed Hasan Askari; Alioglu, Mecit Altan; Yilmaz, Yasar Ozer; Smith, Annie; Haugh, Logan; Robazzi, Joao Vitor Silva; Sency, Jade; Kim, Myoung Hwan; Neuberger, Thomas; Costanzo, Francesco; Ozbolat, Ibrahim T

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

GRIA3基因的功能获得性变异和功能丧失性变异会导致不同的神经发育表型。

Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; Sully, Krystal; Murali, Chaya N; Burrage, Lindsay C; Plaud Gonzalez, Julie Ana; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jérémie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Mélanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Ayala Valenzuela, Fernando Eduardo; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Patron Romero, Leslie; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortüm, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Møller, Rikke S; Tümer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R; Shi, Yun Stone; Kristensen, Anders S

Characterization of a novel variant in KCNJ16, encoding K(ir)5.1 channel

对编码 K(ir)5.1 通道的 KCNJ16 基因中的一种新型变体进行表征

Xu, Biyang; Levchenko, Vladislav; Bohovyk, Ruslan; Ahrari, Ameneh; Geurts, Aron M; Sency, Valerie; Xin, Baozhong; Wang, Heng; Staruschenko, Alexander

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

胆汁酸输出泵缺陷中截断突变 p.E297G 和 p.D482G 的基因型-表型关系

Felzen, Antonia; van Wessel, Daan B E; Gonzales, Emmanuel; Thompson, Richard J; Jankowska, Irena; Shneider, Benjamin L; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipiński, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B F; Serranti, Daniele; Arikan, Cigdem; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsőfi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J; Kamath, Binita M; Wang, Jian-She; Li, Liting; Durmaz, Özlem; Kerkar, Nanda; Jørgensen, Marianne Hørby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordoñez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey-Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M; Sokol, Ronald J; Suchy, Frederick J; Loomes, Kathleen M; McKiernan, Patrick J; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A; Wang, Kasper; Hansen, Bettina E; Verkade, Henkjan J

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

蛋白磷酸酶 1 调节亚基 3F (PPP1R3F) 的半合子变异与神经发育障碍有关,其特征是发育迟缓、智力障碍和自闭症

Zhigang Liu, Baozhong Xin, Iris N Smith, Valerie Sency, Julia Szekely, Anna Alkelai, Alan Shuldiner, Stephanie Efthymiou, Farrah Rajabi, Stephanie Coury, Catherine A Brownstein, Sabine Rudnik-Schöneborn, Ange-Line Bruel, Julien Thevenon, Shimriet Zeidler, Parul Jayakar, Axel Schmidt, Kirsten Cremer,

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

基因型、血清胆汁酸和外科胆道改道对FIC1缺陷患者自体肝脏存活率的影响

van Wessel, Daan B E; Thompson, Richard J; Gonzales, Emmanuel; Jankowska, Irena; Shneider, Benjamin L; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipiński, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Algoufi, Talal; Mazhar, Nejat; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B F; Serranti, Daniele; Arikan, Cigdem; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsőfi, Antal; Luigi Calvo, Pier; Krebs-Schmitt, Dorothee; Hartleif, Steffen; van der Woerd, Wendy L; Wang, Jian-She; Li, Li-Ting; Durmaz, Özlem; Kerkar, Nanda; Hørby Jørgensen, Marianne; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noémie; Targa Ferreira, Cristina; Ordonez, Felipe; Wang, Heng; Sency, Valerie; Mo Kim, Kyung; Chen, Huey-Ling; Carvalho, Elisa; Fabre, Alexandre; Quintero Bernabeu, Jesus; Alonso, Estella M; Sokol, Ronald J; Suchy, Frederick J; Loomes, Kathleen M; McKiernan, Patrick J; Rosenthal, Philip; Turmelle, Yumirle; Rao, Girish S; Horslen, Simon; Kamath, Binita M; Rogalidou, Maria; Karnsakul, Wikrom W; Hansen, Bettina; Verkade, Henkjan J

Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion

嵌合体个体中 DNMT3A 突变克隆的组织偏向性扩增与保守的表观遗传侵蚀有关

Ayala Tovy, Jaime M Reyes, Michael C Gundry, Lorenzo Brunetti, Henry Lee-Six, Mia Petljak, Hyun Jung Park, Anna G Guzman, Carina Rosas, Aaron R Jeffries, Emma Baple, Jonathan Mill, Andrew H Crosby, Valerie Sency, Baozhong Xin, Heather E Machado, Danielle Castillo, Jeffrey N Weitzel, Wei Li, Michael

Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency

口服神经节苷脂补充剂可改善神经节苷脂GM3合成酶缺乏症患者的生长发育

Wang, Heng; Sency, Valerie; McJarrow, Paul; Bright, Alicia; Huang, Qianyang; Cechner, Karen; Szekely, Julia; Brace, JoAnn; Wang, Andi; Liu, Danting; Rowan, Angela; Wiznitzer, Max; Zhou, Aimin; Xin, Baozhong