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American Journal of Human Genetics|July 3, 2018
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical ExomesJung Hoon Son, Gangcai Xie, Chi Yuan, et al.
Scientific Reports|December 6, 2023
The diagnostic yield of exome sequencing in liver diseases from a curated gene panelXiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, et al.
Arxiv|January 30, 2023
Beyond the exome: what's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
American Journal of Human Genetics|August 4, 2023
Beyond the exome: What's next in diagnostic testing for Mendelian conditionsMonica H Wojcik, Chloe M Reuter, Shruti Marwaha, et al.
Clinical Journal of the American Society of Nephrology : CJASN|April 18, 2020
Pilot Study of Return of Genetic Results to Patients in Adult NephrologyJordan G Nestor, Maddalena Marasa, Hila Milo-Rasouly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panelTheodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
The New England Journal of Medicine|December 27, 2018
Diagnostic Utility of Exome Sequencing for Kidney DiseaseEmily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, et al.
Nature Communications|August 7, 2025
Exome analysis links kidney malformations to developmental disorders and reveals causal genesHila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, et al.
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