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

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Smith-Magenis综合征和Potocki-Lupski综合征的DNA甲基化表观遗传特征:镜像视角

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

MRGPRX2-expressing mast cells are increased in the GI tract of individuals with active inflammatory bowel disease and hereditary α-tryptasemia

在患有活动性炎症性肠病和遗传性α-胰蛋白酶血症的个体中,胃肠道内表达MRGPRX2的肥大细胞数量增加。

Galeas-Pena, Michelle; Lyons, Jonathan J; Llivichuzhca-Loja, Dhana; Everman, Steve; Yaghi, Ghina; White, Katelyn; Sutradhar, Sangita; Robinson, Tanya O; Owings, Anna H; Dhaliwal, Neha S; Carlye, Alexander; Konnikova, Liza; Ali, Hydar; Glover, Sarah C

MRGPRX2-expressing mast cells are increased in the GI tract of individuals with active inflammatory bowel disease and hereditary α-tryptasemia

在患有活动性炎症性肠病和遗传性α-胰蛋白酶血症的个体中,胃肠道内表达MRGPRX2的肥大细胞数量增加。

Galeas-Pena, Michelle; Lyons, Jonathan J; Llivichuzhca-Loja, Dhana; Everman, Steve; Yaghi, Ghina; White, Katelyn; Sutradhar, Sangita; Robinson, Tanya O; Owings, Anna H; Dhaliwal, Neha S; Carlye, Alexander; Konnikova, Liza; Ali, Hydar; Glover, Sarah C

The PRIMERO birth cohort: Design and baseline characteristics

PRIMERO出生队列:设计和基线特征

Witonsky, Jonathan I; Elhawary, Jennifer R; Eng, Celeste; Oh, Sam S; Salazar, Sandra; Contreras, Maria G; Medina, Vivian; Secor, Elizabeth A; Zhang, Priscilla; Everman, Jamie L; Fairbanks-Mahnke, Ana; Pruesse, Elmar; Sajuthi, Satria P; Chang, Chih-Hao; Guerrero, Tsunami Rosado; Fuentes, Keyshla Canales; Lopez, Natalie; Montañez-López, Chris Angely; Morales, Emily Vazquez; Morales, Nicole Vazquez; Otero, Richeliz Alfonso; Rivera, Raymarie Colon; Rodriguez, Leysha; Vazquez, Gabriela; Hu, Donglei; Huntsman, Scott; Jackson, Nathan D; Li, Yingchun; Morin, Andrew; Nieves, Natalie A; Rios, Cydney; Serrano, Gonzalo; Williams, Blake J M; Ziv, Elad; Moore, Camille M; Sheppard, Dean; Burchard, Esteban González; Seibold, Max A; Rodríguez-Santana, Jose R

A common polymorphism in the Intelectin-1 gene influences mucus plugging in severe asthma

Intelectin-1 基因的常见多态性影响严重哮喘的粘液堵塞

Jamie L Everman, Satria P Sajuthi, Maude A Liegeois, Nathan D Jackson, Erik H Collet, Michael C Peters, Maurizio Chioccioli, Camille M Moore, Bhavika B Patel, Nathan Dyjack, Roger Powell, Cydney Rios, Michael T Montgomery, Celeste Eng, Jennifer R Elhawary, Angel C Y Mak, Donglei Hu, Scott Huntsman, 

Human Epidemiology and Response to SARS-CoV-2 (HEROS): objectives, design, and enrollment results of a 12-city remote observational surveillance study of households with children, using direct-to-participant methods

人类流行病学与SARS-CoV-2应对(HEROS):一项针对12个城市有儿童家庭的远程观察监测研究的目标、设计和入组结果,采用直接参与者招募方法

Fulkerson, Patricia C; Lussier, Stephanie J; Bendixsen, Casper G; Castina, Sharon M; Gebretsadik, Tebeb; Marlin, Jessica S; Russell, Patty B; Seibold, Max A; Everman, Jamie L; Moore, Camille M; Snyder, Brittney M; Thompson, Kathy; Tregoning, George S; Wellford, Stephanie; Arbes, Samuel J; Bacharier, Leonard B; Calatroni, Agustin; Camargo, Carlos A Jr; Dupont, William D; Furuta, Glenn T; Gruchalla, Rebecca S; Gupta, Ruchi S; Hershey, Gurjit Khurana; Jackson, Daniel J; Johnson, Christine C; Kattan, Meyer; Liu, Andrew H; Murrison, Liza; O'Connor, George T; Phipatanakul, Wanda; Rivera-Spoljaric, Katherine; Rothenberg, Marc E; Seroogy, Christine M; Teach, Stephen J; Zoratti, Edward M; Togias, Alkis; Hartert, Tina V; Heros Study Team, On Behalf Of The

Atopic Dermatitis Complicated by Recurrent Eczema Herpeticum Is Characterized by Multiple, Concurrent Epidermal Inflammatory Endotypes

复发性疱疹性湿疹并发特应性皮炎的特点是同时存在多种表皮炎症内型

Nathan D Jackson, Nathan Dyjack, Elena Goleva, Lianghua Bin, Michael T Montgomery, Cydney Rios, Jamie L Everman, Patricia Taylor, Caroline Bronchick, Brittany N Richers, Donald Y M Leung, Max A Seibold

Gene expression variation underlying tissue-specific responses to copper stress in Drosophila melanogaster

果蝇对铜胁迫的组织特异性反应的基因表达变异

Elizabeth R Everman, Stuart J Macdonald

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

PRDM1 DNA 结合锌指结构域是正常肢体发育所必需的,在手足分裂畸形中被破坏

Brittany T Truong, Lomeli C Shull, Ezra Lencer, Eric G Bend, Michael Field, Elizabeth E Blue, Michael J Bamshad, Cindy Skinner, David Everman, Charles E Schwartz, Heather Flanagan-Steet, Kristin B Artinger