dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening

por Peng, Gang, Zhang, Yunxuan, Zhao, Hongyu, Scharfe, Curt
Publicado 2022

Forward Chemical Genetics in Yeast for Discovery of Chemical Probes Targeting Metabolism

por St.Onge, Robert, Schlecht, Ulrich, Scharfe, Curt, Evangelista, Marie
Publicado 2012

Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance

por Peng, Gang, Tang, Yishuo, Cowan, Tina M., Zhao, Hongyu, Scharfe, Curt
Publicado 2021

Multi-frequency impedance sensing for detection and sizing of DNA fragments

por Sui, Jianye, Gandotra, Neeru, Xie, Pengfei, Lin, Zhongtian, Scharfe, Curt, Javanmard, Mehdi
Publicado 2021

Nucleic Acid Quantification by Multi-Frequency Impedance Cytometry and Machine Learning

por Kokabi, Mahtab, Sui, Jianye, Gandotra, Neeru, Pournadali Khamseh, Arastou, Scharfe, Curt, Javanmard, Mehdi
Publicado 2023

Multiplex target capture with double-stranded DNA probes

por Shen, Peidong, Wang, Wenyi, Chi, Aung-Kyaw, Fan, Yu, Davis, Ronald W, Scharfe, Curt
Publicado 2013

Reducing False-Positive Results in Newborn Screening Using Machine Learning

por Peng, Gang, Tang, Yishuo, Cowan, Tina M., Enns, Gregory M., Zhao, Hongyu, Scharfe, Curt
Publicado 2020

The population genetics characteristics of a 90 locus panel of microhaplotypes

por Pakstis, Andrew J., Gandotra, Neeru, Speed, William C., Murtha, Michael, Scharfe, Curt, Kidd, Kenneth K.
Publicado 2021

Semi-Automated Library Preparation for High-Throughput DNA Sequencing Platforms

por Farias-Hesson, Eveline, Erikson, Jonathan, Atkins, Alexander, Shen, Peidong, Davis, Ronald W., Scharfe, Curt, Pourmand, Nader
Publicado 2010

Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns

por Peng, Gang, de Fontnouvelle, Christina A., Enns, Gregory M., Cowan, Tina M., Zhao, Hongyu, Scharfe, Curt
Publicado 2018

Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes

por Peng, Gang, Tang, Yishuo, Gandotra, Neeru, Enns, Gregory M., Cowan, Tina M., Zhao, Hongyu, Scharfe, Curt
Publicado 2020

Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances

por Peng, Gang, Pakstis, Andrew J., Gandotra, Neeru, Cowan, Tina M., Zhao, Hongyu, Kidd, Kenneth K., Scharfe, Curt
Publicado 2022

Validation of novel forensic DNA markers using multiplex microhaplotype sequencing

por Gandotra, Neeru, Speed, William C., Qin, Wenyi, Tang, Yishuo, Pakstis, Andrew J., Kidd, Kenneth K., Scharfe, Curt
Publicado 2020

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

por Chan, Kee, Hu, Zhanzhi, Bush, Lynn W., Cope, Heidi, Holm, Ingrid A., Kingsmore, Stephen F., Wilhelm, Kevin, Scharfe, Curt, Brower, Amy
Publicado 2023

Massively parallel discovery of human-specific substitutions that alter enhancer activity

por Uebbing, Severin, Gockley, Jake, Reilly, Steven K., Kocher, Acadia A., Geller, Evan, Gandotra, Neeru, Scharfe, Curt, Cotney, Justin, Noonan, James P.
Publicado 2021

Digital assay for rapid electronic quantification of clinical pathogens using DNA nanoballs

por Tayyab, Muhammad, Barrett, Donal, van Riel, Gijs, Liu, Shujing, Reinius, Björn, Scharfe, Curt, Griffin, Peter, Steinmetz, Lars M., Javanmard, Mehdi, Pelechano, Vicent
Publicado 2023

A functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system

por Schlecht, Ulrich, Suresh, Sundari, Xu, Weihong, Aparicio, Ana Maria, Chu, Angela, Proctor, Michael J, Davis, Ronald W, Scharfe, Curt, St Onge, Robert P
Publicado 2014

Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

por Scharfe, Curt, Lu, Henry Horng-Shing, Neuenburg, Jutta K., Allen, Edward A., Li, Guan-Cheng, Klopstock, Thomas, Cowan, Tina M., Enns, Gregory M., Davis, Ronald W.
Publicado 2009

Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

por Peng, Gang, Shen, Peidong, Gandotra, Neeru, Le, Anthony, Fung, Eula, Jelliffe-Pawlowski, Laura, Davis, Ronald W., Enns, Gregory M., Zhao, Hongyu, Cowan, Tina M., Scharfe, Curt
Publicado 2018

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing

por Wang, Wenyi, Shen, Peidong, Thiyagarajan, Sreedevi, Lin, Shengrong, Palm, Curtis, Horvath, Rita, Klopstock, Thomas, Cutler, David, Pique, Lynn, Schrijver, Iris, Davis, Ronald W., Mindrinos, Michael, Speed, Terence P., Scharfe, Curt
Publicado 2011