|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
|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
|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
|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
|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
|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
|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
|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
|Recent advances in renal phosphate handling|
EG Farrow, KE White
Nature Reviews Nephrology 6 (4), 207-217, 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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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