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

Single vs dual genetic disease in children with congenital anomalies and solid tumors

儿童先天性畸形和实体瘤中的单一基因疾病与双重基因疾病

Watson, Deborah J; Saeidian, Amir Hossein; Wang, Xiang; Harr, Margaret H; Liu, Yichuan; Li, Yun Rose; Terek, Shannon; de Barcelos, Isabella Peixoto; Nesbitt, Addie; Nguyen, Kenny; Chang, Xiao; Connolly, John; Hou, Cuiping; Slaby, Isabella; Wang, Fengxiang; Snyder, James; Qiu, Haijun; Qu, Huiqi; March, Michael E; Zhao, Xiaonan; Mentch, Frank; Sleiman, Patrick; Glessner, Joseph; Hakonarson, Hakon

N-Acetylcysteine for Hereditary Cystatin C Amyloid Angiopathy: A Nonrandomized Clinical Trial

N-乙酰半胱氨酸治疗遗传性胱抑素C淀粉样血管病:一项非随机临床试验

Snorradottir, Asbjorg Osk; Gutierrez-Uzquiza, Alvaro; Bragado, Paloma; March, Michael E; Kao, Charlly; Arkink, Enrico Bernardo; Jonsdottir, Solveig; Sigurdardottir, Arna; Isaksson, Helgi J; Mariasdóttir, Hekla Liv; Bjorgvinsdottir, Olga Yr; Kowal, Natalia M; Heimisdottir, Hugrun L; Sverrisdottir, Astros; Palsdottir, Astridur; Bjornsson, Hans Tomas; Hakonarson, Hakon

Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis.

GWAS、QTL 和角质形成细胞功能检测的整合揭示了特应性皮炎的分子机制

Oliva Meritxell, Sarkar Mrinal K, March Michael E, Saeidian Amir Hossein, Mentch Frank D, Hsieh Chen-Lin, Tang Fanying, Uppala Ranjitha, Patrick Matthew T, Li Qinmengge, Bogle Rachael, Kahlenberg J Michelle, Watson Deborah, Glessner Joseph T, Youssefian Leila, Vahidnezhad Hassan, Tsoi Lam C, Hakonarson Hakon, Gudjonsson Johann E, Smith Kathleen M, Riley-Gillis Bridget

Genetic modifiers of asthma response to air pollution in children: An African ancestry GWAS and PM(2.5) polygenic risk score study

儿童哮喘对空气污染反应的遗传修饰因素:一项基于非洲血统的全基因组关联研究和PM2.5多基因风险评分研究

Kelchtermans, Jelte; March, Michael E; Mentch, Frank; Qu, Huiqi; Liu, Yichuan; Nguyen, Kenny; Hakonarson, Hakon

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能障碍会导致具有重叠特征的神经发育障碍。

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

对哈迪卡综合征的表型谱和发病机制的新见解

Strong Alanna, March Michael E, Cardinale Christopher J, Liu Yichuan, Battig Mark R, Finoti Livia Sertori, Matsuoka Leticia S, Watson Deborah, Sridhar Sindura, Jarrett James F, Cannon India, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Rand Elizabeth B, Wenger Tara, Lerman Bruce B, Shikany Amy, Weaver K Nicole, Hakonarson Hakon

Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children

表型关联研究发现儿童支气管肺发育不良与嗜酸性粒细胞增多症相关

Kelchtermans, Jelte; March, Michael E; Hakonarson, Hakon; McGrath-Morrow, Sharon A

Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders

神经发育障碍儿童代谢型谷氨酸受体相互作用基因中罕见的复发性拷贝数变异

Glessner, Joseph T; Khan, Munir E; Chang, Xiao; Liu, Yichuan; Otieno, F George; Lemma, Maria; Slaby, Isabella; Hain, Heather; Mentch, Frank; Li, Jin; Kao, Charlly; Sleiman, Patrick M A; March, Michael E; Connolly, John; Hakonarson, Hakon

Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis

通过整合遗传分析鉴定幼年特发性关节炎亚型共有的新基因位点

Li, Jin; Li, Yun R; Glessner, Joseph T; Yang, Jie; March, Michael E; Kao, Charlly; Vaccaro, Courtney N; Bradfield, Jonathan P; Li, Junyi; Mentch, Frank D; Qu, Hui-Qi; Qi, Xiaohui; Chang, Xiao; Hou, Cuiping; Abrams, Debra J; Qiu, Haijun; Wei, Zhi; Connolly, John J; Wang, Fengxiang; Snyder, James; Flatø, Berit; Thompson, Susan D; Langefeld, Carl D; Lie, Benedicte A; Munro, Jane E; Wise, Carol; Sleiman, Patrick M A; Hakonarson, Hakon

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

内质网质量控制甘露糖苷酶基因EDEM3的双等位基因变异会导致先天性糖基化障碍。

Polla, Daniel L; Edmondson, Andrew C; Duvet, Sandrine; March, Michael E; Sousa, Ana Berta; Lehman, Anna; Niyazov, Dmitriy; van Dijk, Fleur; Demirdas, Serwet; van Slegtenhorst, Marjon A; Kievit, Anneke J A; Schulz, Celine; Armstrong, Linlea; Bi, Xin; Rader, Daniel J; Izumi, Kosuke; Zackai, Elaine H; de Franco, Elisa; Jorge, Paula; Huffels, Sophie C; Hommersom, Marina; Ellard, Sian; Lefeber, Dirk J; Santani, Avni; Hand, Nicholas J; van Bokhoven, Hans; He, Miao; de Brouwer, Arjan P M