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Shruti Marwaha
Stanford University - Stanford / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1670083
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Shruti Marwaha's MOST POPULAR ARTICLES
1-)
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesS Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...Nucleic acids research 47 (D1), D1018-D1027, 20195432019
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohortsL Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ...Nature medicine 25 (6), 911-919, 20191722019
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A guide for the diagnosis of rare and undiagnosed disease: beyond the exomeS Marwaha, JW Knowles, EA AshleyGenome medicine 14 (1), 1-22, 2022522022
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Abnormalities of signal transduction networks in chronic schizophreniaJL McGuire, EA Depasquale, AJ Funk, SM O’Donnovan, K Hasselfeld, ...NPJ schizophrenia 3 (1), 30, 2017672017
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Beyond the exome: what’s next in diagnostic testing for Mendelian conditionsMH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...The American Journal of Human Genetics 110 (8), 1229-1248, 2023662023
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