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

The Genetic Architecture of Congenital Diarrhea and Enteropathy

先天性腹泻和肠病的遗传结构

Gaibee, Zeenat; Warner, Neil; Bugda Gwilt, Katlynn; Li, Wenjuan; Guan, Rei; Yourshaw, Michael; Whittaker Hawkins, Ryder; Zorbas, Christiane; St-Germain, Jonathan; Tabatabaie, Mahdi; Mao, Suli; Pinsk, Vered; Yerushalmi, Baruch; Wang, Lee-Kai; Nelson, Stanley F; Wozniak, Laura; Shouval, Dror S; Matar, Manar; Assa, Amit; Frost, Nathaniel; Jimenez, Lissette; Acra, Sari; Walters, Thomas; Mouat, Stephen; Li, Michael; Lafontaine, Denis L J; Tyska, Matthew; Raught, Brian; Avitzur, Yaron; Lencer, Wayne I; Goldenring, James R; Martín, Martín G; Thiagarajah, Jay R; Muise, Aleixo M

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

联合、多方面的基因组分析能够诊断各种极其罕见的单基因疾病。

Kobren, Shilpa Nadimpalli; Moldovan, Mikhail A; Reimers, Rebecca; Traviglia, Daniel; Li, Xinyun; Barnum, Danielle; Veit, Alexander; Corona, Rosario I; Carvalho Neto, George de V; Willett, Julian; Berselli, Michele; Ronchetti, William; Nelson, Stanley F; Martinez-Agosto, Julian A; Sherwood, Richard; Krier, Joel; Kohane, Isaac S; Sunyaev, Shamil R

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

DDX53基因的遗传变异与Xp22.11位点相关的自闭症谱系障碍有关。

Scala, Marcello; Bradley, Clarrisa A; Howe, Jennifer L; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S; Anagnostou, Evdokia; MacDonald, Jeffrey R; Ko, Sangyoon Y; Frankland, Paul W; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V; Douine, Emilie D; Corona, Rosario Ivetth; Russell, Bianca E; Nelson, Stanley F; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2

开发疾病特异性的、易于获取的转录特征作为2型眼动失用性共济失调的生物标志物

Ngo, Kathie J; Wong, Darice Y; Huang, Alden Y; Lee, Hane; Nelson, Stanley F; Fogel, Brent L

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 缺陷:一种伴有癫痫的神经发育障碍的机制基础和表型谱

Dore Rhys, Chang Chu-Ting, Declève Amber, Brunori Gloria, Ludlam W Grant, Huang Alden, Movahedinia Mojtaba, Damseh Nadirah S, Anwar Ijaz, Vahidi Mehrjardi Mohammad Yahya, Ny Annelii, Khorrami Mehdi, Kheirollahi Majid, Frederiksen Helen, Eghbal Fatemeh, Mirjalili Mohammad Reza, Dehghani Mohammadreza, Karimiani Ehsan Ghayoor, Oreshkov Sergey, Alves Cesar, Striano Pasquale, Suri Mohnish, Martinez-Agosto Julian, Ansar Muhammad, Zahid Muhammad, Akram Samra, Ansar Muhammad, Nelson Stanley F, Antonarakis Stylianos E, Houlden Henry, Copmans Daniëlle, Martemyanov Kirill A, Maroofian Reza

Real-world treatment and health care utilization among patients with Duchenne muscular dystrophy by race and ethnicity in a Medicaid population

在医疗补助人群中,杜氏肌营养不良症患者按种族和族裔划分的真实世界治疗和医疗保健利用情况

Posner, Nathaniel; Manjelievskaia, Janna; Talaga, Anna K; Richards, Megan; Lew, Carolyn R; Merla, Valeria; Alvir, Jose Maria Jimenez; Nelson, Stanley F

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects

高通量基因组学鉴定出与严重新生儿马凡综合征和先天性心脏缺陷相关的新型FBN1/2变异

Zodanu, Gloria K E; Hwang, John H; Mehta, Zubin; Sisniega, Carlos; Barsegian, Alexander; Kang, Xuedong; Biniwale, Reshma; Si, Ming-Sing; Satou, Gary M; Halnon, Nancy; Ucla Congenital Heart Defect BioCore Faculty; Grody, Wayne W; Van Arsdell, Glen S; Nelson, Stanley F; Touma, Marlin

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

对RNA测序数据的重新分析结束了漫长的诊断历程,并扩展了先天性肌联蛋白病的表型谱。

McNamee, Lucy; Schoch, Kelly; Huang, Alden; Lee, Hane; Wang, Lee-Kai; Smith, Edward C; Lark, Robert K; Buckley, Anne F; Jobanputra, Vaidehi; Nelson, Stanley F; Shashi, Vandana

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

利用全长同工型测序解析夏科-马里-图斯病2A型的分子基础

Stergachis, Andrew B; Blue, Elizabeth E; Gillentine, Madelyn A; Wang, Lee-Kai; Schwarze, Ulrike; Cortés, Adriana Sedeño; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y; Khan, Alyna T; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H; Rosenthal, Elisabeth A; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Tran, Thao T; Wener, Mark H; Byers, Peter H H; Nelson, Stanley F; Bamshad, Michael J; Dipple, Katrina M; Jarvik, Gail P; Hoppins, Suzanne; Hisama, Fuki M

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

DDX53基因的遗传变异与Xp22.11位点相关的自闭症谱系障碍有关。

Scala, Marcello; Bradley, Clarrisa A; Howe, Jennifer L; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Reuter, Miriam S; MacDonald, Jeffrey R; Ko, Sangyoon Y; Frankland, Paul W; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V; Douine, Emilie D; Russell, Bianca E; Nelson, Stanley F; Zara, Federico; Scherer, Stephen W