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

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

WSB2基因中编码E3泛素连接酶底物受体的隐性变异是神经发育综合征的病因。

Luo, Shiyu; Gailus-Durner, Valérie; McGivern, Bobbi; Li, Qifei; Kottmeier, Jessica; Ho, Mai-Lan; Mor-Shaked, Hagar; Elpeleg, Orly; Aref-Eshghi, Erfan; Brodeur, Amanda C; Schmitz-Abe, Klaus; Genetti, Casie A; Picker, Jonathan; Shi, Jiahai; Bux, Reem Ibrahim; Ben-Omran, Tawfeg; Fuchs, Helmut; Harel, Tamar; de Angelis, Martin Hrabě; Agrawal, Pankaj B

Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU

质量改进计划旨在优化四级新生儿重症监护室中快速基因组测序的使用。

D'Gama, Alissa M; Hu, Rachel S; Del Rosario, Maya C; Hills, Sonia; Park, Hannah J; Mehra, Anna-Thérèse; Tannenbaum, Laura S; Morton, Sarah U; Agrawal, Pankaj B; Wojcik, Monica H

A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy

一种导致儿童间质性肺病的粒蛋白前体变异体,对TNF-α抑制剂生物疗法有反应。

Kennedy, John C; Vargas, Sara O; Fishman, Martha P; Alesi, Nicola; Baek, Seung-Han; Khabibillin, Damir; Platt, Craig D; Garcia-de-Alba, Carolina; Agrawal, Pankaj B; Carmichael, Nikkola E; Henderson, Lauren A; Wehrman, Andrew; Boland, Sebastian; Walther, Tobias; Farese, Robert V Jr; Casey, Alicia M H; Manis, John P; Collen, Lauren V; Lvova, Maria; Barbieri, Alessandro; Sullivan, Brendan; Raby, Benjamin A

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study

利用外显子组和基因组测序诊断新生儿肌张力低下的遗传基础:一项国际联盟研究

Morton, Sarah U; Costain, Gregory; French, Courtney E; Wakeling, Emma; Szuto, Anna; Christodoulou, John; Cohn, Ronald; Darras, Basil T; Wojcik, Monica H; D'Gama, Alissa M; Dowling, James J; Lunke, Sebastian; Muntoni, Francesco; Raymond, Lucy; Rowitch, David; Beggs, Alan H; Stark, Zornitza; Agrawal, Pankaj B

Unique signatures of highly constrained genes across publicly available genomic databases

公开基因组数据库中高度受限基因的独特特征

Schmitz-Abe, Klaus; Li, Qifei; Greene, Sunny; Borrelli, Michela; Luo, Shiyu; Ramesh, Madesh C; Agrawal, Pankaj B

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis

超越皮肤层面:ALOX12B相关常染色体隐性先天性鱼鳞病的免疫学特征和感染并发症

Sefer, Asena Pinar; Catak, Mehmet Cihangir; An, Isa; Keser Ozturk, Necmiye; Baykal Selcuk, Leyla; Dincer, Oguz Salih; Benamar, Mehdi; Getachew, Feven; Schmitz-Abe, Klaus; Agrawal, Pankaj B; Bayram Catak, Feyza; Erman, Baran; Bilgic Eltan, Sevgi; Karakoc Aydiner, Elif; Ozen, Ahmet; Chatila, Talal; Baris, Safa

Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation

基因组测序技术在罕见病主流医疗保健中的应用现状

Mackley, Michael P; Agrawal, Pankaj B; Ali, Sara S; Archibald, Alison D; Dawson-McClaren, Belinda; Ellard, Holly; Freeman, Lucinda; Gu, Yuanyuan; Jayasinghe, Kushani; Jiang, Shan; Kirk, Edwin P; Lewis, Celine; McEwen, Alison; Nisselle, Amy; Quinlan, Catherine; Terrill, Bronwyn; Tutty, Erin; McNeill, Alisdair

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

长读长测序是色素失禁症精准诊断的必要条件。

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda P G; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophie H R; Anderson, Zachary B; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer T; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E

Implementation of multi-omics in diagnosis of pediatric rare diseases

多组学在儿童罕见病诊断中的应用

Ali, Sara S; Li, Qifei; Agrawal, Pankaj B

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

长读长测序是色素失禁症精准诊断的必要条件

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda Pg; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophia Hr; Anderson, Zach; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E