| Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units CJ Saunders, NA Miller, SE Soden, DL Dinwiddie, A Noll, NA Alnadi, ... Science translational medicine 4 (154), 154ra135-154ra135, 2012 | 655 | 2012 |
| Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders SE Soden, CJ Saunders, LK Willig, EG Farrow, LD Smith, JE Petrikin, ... Science translational medicine 6 (265), 265ra168-265ra168, 2014 | 507 | 2014 |
| Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings LK Willig, JE Petrikin, LD Smith, CJ Saunders, I Thiffault, NA Miller, ... The Lancet Respiratory Medicine 3 (5), 377-387, 2015 | 359 | 2015 |
| Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice EG Farrow, X Yu, LJ Summers, SI Davis, JC Fleet, MR Allen, AG Robling, ... Proceedings of the National Academy of Sciences 108 (46), E1146-E1155, 2011 | 337 | 2011 |
| A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases NA Miller, EG Farrow, M Gibson, LK Willig, G Twist, B Yoo, T Marrs, ... Genome medicine 7 (1), 1-16, 2015 | 318 | 2015 |
| Initial FGF23-mediated signaling occurs in the distal convoluted tubule EG Farrow, SI Davis, LJ Summers, KE White Journal of the American Society of Nephrology: JASN 20 (5), 955, 2009 | 258 | 2009 |
| Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo Y Rhee, N Bivi, E Farrow, V Lezcano, LI Plotkin, KE White, T Bellido Bone 49 (4), 636-643, 2011 | 252 | 2011 |
| The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants JE Petrikin, JA Cakici, MM Clark, LK Willig, NM Sweeney, EG Farrow, ... NPJ Genomic Medicine 3 (1), 6, 2018 | 171 | 2018 |
| Recent advances in renal phosphate handling EG Farrow, KE White Nature Reviews Nephrology 6 (4), 207-217, 2010 | 154 | 2010 |
| Circulating αKlotho influences phosphate handling by controlling FGF23 production RC Smith, LM O’Bryan, EG Farrow, LJ Summers, EL Clinkenbeard, ... The Journal of clinical investigation 122 (12), 4710-4715, 2012 | 144 | 2012 |
| Alström Syndrome: Mutation Spectrum of ALMS1 JD Marshall, J Muller, GB Collin, G Milan, SF Kingsmore, D Dinwiddie, ... Human mutation 36 (7), 660-668, 2015 | 135 | 2015 |
| Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF 23 in normal and ADHR mice EL Clinkenbeard, EG Farrow, LJ Summers, TA Cass, JL Roberts, CA Bayt, ... Journal of Bone and Mineral Research 29 (2), 361-369, 2014 | 126 | 2014 |
| Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences GP Twist, A Gaedigk, NA Miller, EG Farrow, LK Willig, DL Dinwiddie, ... NPJ genomic medicine 1 (1), 1-10, 2016 | 107 | 2016 |
| Erythropoietin stimulates murine and human fibroblast growth factor-23, revealing novel roles for bone and bone marrow EL Clinkenbeard, MR Hanudel, KR Stayrook, HN Appaiah, EG Farrow, ... Haematologica 102 (11), e427, 2017 | 105 | 2017 |
| Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen’s metaphyseal chondrodysplasia WW Brown, H Jüppner, CB Langman, H Price, EG Farrow, KE White, ... The Journal of Clinical Endocrinology & Metabolism 94 (1), 17-20, 2009 | 91 | 2009 |
| A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization I Thiffault, DJ Speca, DC Austin, MM Cobb, KS Eum, NP Safina, L Grote, ... Journal of General Physiology 146 (5), 399-410, 2015 | 82 | 2015 |
| Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome DL Dinwiddie, LD Smith, NA Miller, AM Atherton, EG Farrow, ME Strenk, ... Genomics 102 (3), 148-156, 2013 | 79 | 2013 |
| Diagnostics of primary immunodeficiencies through next-generation sequencing V Gallo, L Dotta, G Giardino, E Cirillo, V Lougaris, R D’Assante, ... Frontiers in immunology 7, 466, 2016 | 78 | 2016 |
| Biallelic mutations in TBCD, encoding the tubulin folding cofactor D, perturb microtubule dynamics and cause early-onset encephalopathy E Flex, M Niceta, S Cecchetti, I Thiffault, MG Au, A Capuano, E Piermarini, ... The American Journal of Human Genetics 99 (4), 962-973, 2016 | 78 | 2016 |
| MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates A Guimier, GC Gabriel, F Bajolle, M Tsang, H Liu, A Noll, M Schwartz, ... Nature genetics 47 (11), 1260-1263, 2015 | 75 | 2015 |
