| A probabilistic disease-gene finder for personal genomes M Yandell, C Huff, H Hu, M Singleton, B Moore, J Xing, LB Jorde, ... Genome research 21 (9), 1529-1542, 2011 | 262 | 2011 |
| Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families MV Singleton, SL Guthery, KV Voelkerding, K Chen, B Kennedy, ... The American Journal of Human Genetics 94 (4), 599-610, 2014 | 216 | 2014 |
| Validation of DNA-based prognostic testing to predict spinal curve progression in adolescent idiopathic scoliosis K Ward, JW Ogilvie, MV Singleton, R Chettier, G Engler, LM Nelson Spine 35 (25), E1455-E1464, 2010 | 135 | 2010 |
| The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders S Dames, LS Chou, Y Xiao, T Wayman, J Stocks, M Singleton, K Eilbeck, ... The Journal of Molecular Diagnostics 15 (4), 526-534, 2013 | 66 | 2013 |
| Methods and systems for genome analysis M Yandell, M Singleton, M Reese, K Eilbeck US Patent App. 14/877,877, 2016 | 55 | 2016 |
| Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics B Moore, H Hu, M Singleton, FM De La Vega, MG Reese, M Yandell Genetics in medicine 13 (3), 210-217, 2011 | 41 | 2011 |
| Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma TM Darlington, R Pimentel, K Smith, AV Bakian, L Jerominski, J Cardon, ... Translational Psychiatry 4 (10), e471-e471, 2014 | 11 | 2014 |
| Systems and methods for string reprioritization M Yandell, M Singleton, M Reese, K Eilbeck US Patent App. 15/979,973, 2019 | 4 | 2019 |
| Combining phenotype and genotype for discovery and diagnosis of genetic disease M Singleton The University of Utah, 2015 | 2 | 2015 |
| Validation Trials of a DNA-Based Prognostic Test (AIS-PT) Designed to Predict Curve Progression in Adolescent Idiopathic Scoliosis Patients: Poster# 14 K Ward, MV Singleton, T Berry, LM Nelson, JW Ogilvie Spine Journal Meeting Abstracts 10, 144, 2009 | 1 | 2009 |
| Methods and systems for genome analysis M Yandell, M Singleton, M Reese, K Eilbeck US Patent App. 17/520,037, 2022 | | 2022 |
Mark YandellProfessor of Human Genetics, University of UtahDirección de correo verificada de genetics.utah.edu