| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ... Nucleic acids research 47 (D1), D1018-D1027, 2019 | 669 | 2019 |
| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ... Nature medicine 25 (6), 911-919, 2019 | 266 | 2019 |
| A guide for the diagnosis of rare and undiagnosed disease: beyond the exome S Marwaha, JW Knowles, EA Ashley Genome medicine 14 (1), 23, 2022 | 152 | 2022 |
| Abnormalities of signal transduction networks in chronic schizophrenia JL McGuire, EA Depasquale, AJ Funk, SM O’Donnovan, K Hasselfeld, ... NPJ schizophrenia 3 (1), 30, 2017 | 61 | 2017 |
| Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing CM Reuter, JN Kohler, D Bonner, D Zastrow, L Fernandez, A Dries, ... Journal of genetic counseling 28 (6), 1107-1118, 2019 | 53 | 2019 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 25 | 2023 |
| Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome YH Chen, DB Zastrow, RD Metcalfe, L Gartner, F Krause, CJ Morton, ... Journal of Allergy and Clinical Immunology 148 (2), 585-598, 2021 | 21 | 2021 |
| Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases SN Kobren, D Baldridge, M Velinder, JB Krier, K LeBlanc, C Esteves, ... Genetics in Medicine 23 (6), 1075-1085, 2021 | 18 | 2021 |
| Crosstalks between Cytokines and Sonic Hedgehog in Helicobacter pylori Infection: A Mathematical Model S Marwaha, MA Schumacher, Y Zavros, HR Eghbalnia PLoS One 9 (11), e111338, 2014 | 18 | 2014 |
| Supervised and Unsupervised Machine Learning Methodologies for Crime Pattern Analysis Full Text SMRB Divya Sardana International Journal of Artificial Intelligence & Applications (IJAIA) 12, 2021 | 9 | 2021 |
| A patient with sjogren’s syndrome and subsequent diagnosis of inclusion body myositis and light-chain amyloidosis J Hom, S Marwaha, A Postolova, J Kittle, R Vasquez, J Davidson, J Kohler, ... Journal of General Internal Medicine 34, 1058-1062, 2019 | 7 | 2019 |
| Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy EA Burke, M Sturgeon, DB Zastrow, L Fernandez, C Prybol, S Marwaha, ... Journal of neurogenetics 35 (2), 74-83, 2021 | 4 | 2021 |
| RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci S Fazal, MC Danzi, I Xu, SN Kobren, S Sunyaev, C Reuter, S Marwaha, ... Genome biology 25 (1), 1-22, 2024 | 2 | 2024 |
| A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network RC Spillmann, QKG Tan, C Reuter, K Schoch, UD Network, J Kohler, ... Genetics in Medicine 25 (4), 100353, 2023 | 1 | 2023 |
| Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation JN Kohler, EG Kelley, BM Boyd, CH Sillari, S Marwaha, ... Journal of genetic counseling 31 (2), 326-337, 2022 | 1 | 2022 |
Michael A. SchumacherUniversity of Southern California & Children’s Hospital Los AngelesVerified email at chla.usc.edu
