Shruti Marwaha

Shruti Marwaha

Stanford University - Stanford / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1670083
person_outline 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
2-) 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
3-) A guide for the diagnosis of rare and undiagnosed disease: beyond the exomeS Marwaha, JW Knowles, EA AshleyGenome medicine 14 (1), 1-22, 2022522022
4-) Abnormalities of signal transduction networks in chronic schizophreniaJL McGuire, EA Depasquale, AJ Funk, SM O’Donnovan, K Hasselfeld, ...NPJ schizophrenia 3 (1), 30, 2017672017
5-) Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testingCM Reuter, JN Kohler, D Bonner, D Zastrow, L Fernandez, A Dries, ...Journal of genetic counseling 28 (6), 1107-1118, 2019542019