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

Development of a comprehensive cardiovascular disease genetic risk assessment test

开发一种全面的心血管疾病遗传风险评估测试

Amendola, Laura M; Coffey, Alison J; Lowry, Josh; Avecilla, James; Malhotra, Alka; Chawla, Aditi; Thacker, Stetson; Taylor, Julie P; Rajkumar, Revathi; Brown, Carolyn M; Golden-Grant, Katie; Hejja, Rueben; Kalista, Tasha; Lee, Jennifer A; Medrano, Phillip; Milewski, Becky; Mullen, Felipe; Walker, Andrew; Huertas-Vazquez, Adriana; Longoni, Mauro; Robinson, Keisha; Perry, Denise L; Hostin, Damon; Ajay, Subramanian S; Kesari, Akanchha; Strom, Samuel P; Margulies, Elliott; Belmont, John; Lanfear, David E; Taft, Ryan J

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES

利用全基因组测序(WGS)与全外显子组测序(WES)对临床异质性儿科队列进行更精细的基因组表征。

Brashear, Awtum M; Gustafson, Anxhela G; Quitadamo, Andrew; Evangelista, Emily; Quinn, Daelyn; Strom, Samuel P; Snyder, Holly L; Longoni, Mauro; Shazand, Kamran

Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases

指南指导的基因检测在遗传性心血管疾病中的实际应用

Longoni, Mauro; Bhasin, Kanchan; Ward, Andrew; Lee, Donghyun; Nisson, McKenna; Bhatt, Sucheta; Rodriguez, Fatima; Dash, Rajesh

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia

对与先天性膈疝相关的拷贝数变异进行系统分析

Zhu, Qihui; High, Frances A; Zhang, Chengsheng; Cerveira, Eliza; Russell, Meaghan K; Longoni, Mauro; Joy, Maliackal P; Ryan, Mallory; Mil-Homens, Adam; Bellfy, Lauren; Coletti, Caroline M; Bhayani, Pooja; Hila, Regis; Wilson, Jay M; Donahoe, Patricia K; Lee, Charles

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

NAA15 的截断变异与不同程度的智力障碍、自闭症谱系障碍和先天性异常有关。

Cheng, Hanyin; Dharmadhikari, Avinash V; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E; Crews, Sarah R; Eldomery, Mohammad K; Akdemir, Zeynep Coban; Lewis, Andrea M; Sutton, Vernon R; Rosenfeld, Jill A; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A; van Slegtenhorst, Marjon A; Mancini, Grazia M S; Finnila, Candice R; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S; Bernier, Raphael A; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J; de Vries, Bert B A; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K; Boycott, Kym M; Person, Richard; Willaert, Rebecca; Eichler, Evan E; Kooy, R Frank; Yang, Yaping; Wu, Joseph C; Lupski, James R; Arnesen, Thomas; Cooper, Gregory M; Chung, Wendy K; Gecz, Jozef; Stessman, Holly A F; Meng, Linyan; Lyon, Gholson J

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

先天性膈疝中的新生变异将MYRF鉴定为一种新的综合征,并揭示了其与其他发育障碍的遗传重叠。

Qi, Hongjian; Yu, Lan; Zhou, Xueya; Wynn, Julia; Zhao, Haoquan; Guo, Yicheng; Zhu, Na; Kitaygorodsky, Alexander; Hernan, Rebecca; Aspelund, Gudrun; Lim, Foong-Yen; Crombleholme, Timothy; Cusick, Robert; Azarow, Kenneth; Danko, Melissa E; Chung, Dai; Warner, Brad W; Mychaliska, George B; Potoka, Douglas; Wagner, Amy J; ElFiky, Mahmoud; Wilson, Jay M; Nickerson, Debbie; Bamshad, Michael; High, Frances A; Longoni, Mauro; Donahoe, Patricia K; Chung, Wendy K; Shen, Yufeng

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance

152例特纳综合征患者的双重诊断:了解第二种疾病可能有助于调整治疗方案和/或监测措施。

Jones, Kelly L; McNamara, Erin A; Longoni, Mauro; Miller, Danny E; Rohanizadegan, Mersedeh; Newman, Laura A; Hayes, Frances; Levitsky, Lynne L; Herrington, Betty L; Lin, Angela E

Use of oxidized regenerated cellulose to achieve hemostasis during laparoscopic cholecystectomy: a retrospective cohort analysis

氧化再生纤维素在腹腔镜胆囊切除术中止血的应用:一项回顾性队列分析

Masci, Emilia; Faillace, Giuseppe; Longoni, Mauro

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia

孤立性和复杂性先天性膈疝患者中致病性新生变异的全基因组富集

Longoni, Mauro; High, Frances A; Qi, Hongjian; Joy, Maliackal P; Hila, Regis; Coletti, Caroline M; Wynn, Julia; Loscertales, Maria; Shan, Linshan; Bult, Carol J; Wilson, Jay M; Shen, Yufeng; Chung, Wendy K; Donahoe, Patricia K

Erratum to: Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation

更正:IV型胶原蛋白驱动肺泡上皮-内皮细胞关联和隔膜形态发生运动

Loscertales, Maria; Nicolaou, Fotini; Jeanne, Marion; Longoni, Mauro; Gould, Douglas B; Sun, Yunwei; Maalouf, Faouzi I; Nagy, Nandor; Donahoe, Patricia K