Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy H Antonicka, A Mattman, CG Carlson, DM Glerum, KC Hoffbuhr, SC Leary, ... The American Journal of Human Genetics 72 (1), 101-114, 2003 | 376 | 2003 |
Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 317 | 2016 |
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase SC Leary, BA Kaufman, G Pellecchia, GH Guercin, A Mattman, M Jaksch, ... Human molecular genetics 13 (17), 1839-1848, 2004 | 280 | 2004 |
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis SC Leary, PA Cobine, BA Kaufman, GH Guercin, A Mattman, J Palaty, ... Cell metabolism 5 (1), 9-20, 2007 | 266 | 2007 |
The 24-hour urine collection: gold standard or historical practice? AM Côté, T Firoz, A Mattman, EM Lam, P von Dadelszen, LA Magee American journal of obstetrics and gynecology 199 (6), 625. e1-625. e6, 2008 | 257 | 2008 |
Lead and mercury exposures: interpretation and action E Brodkin, R Copes, A Mattman, J Kennedy, R Kling, A Yassi CMAJ 176 (1), 59-63, 2007 | 201 | 2007 |
Transferrin receptor 2 (TfR2) and HFEmutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation A Mattman, D Huntsman, G Lockitch, S Langlois, N Buskard, D Ralston, ... Blood, The Journal of the American Society of Hematology 100 (3), 1075-1077, 2002 | 157 | 2002 |
Soluble interleukin-2 receptor is a sensitive diagnostic test in adult HLH A Hayden, M Lin, S Park, M Pudek, M Schneider, MB Jordan, A Mattman, ... Blood advances 1 (26), 2529-2534, 2017 | 156 | 2017 |
IgG4-related disease: what a hematologist needs to know LYC Chen, A Mattman, MA Seidman, MN Carruthers haematologica 104 (3), 444, 2019 | 149 | 2019 |
Associations between perfluoroalkyl acids (PFASs) and maternal thyroid hormones in early pregnancy: a population-based cohort study GM Webster, SA Venners, A Mattman, JW Martin Environmental research 133, 338-347, 2014 | 147 | 2014 |
Clinical utility of soluble interleukin-2 receptor in hemophagocytic syndromes: a systematic scoping review M Lin, S Park, A Hayden, D Giustini, M Trinkaus, M Pudek, A Mattman, ... Annals of Hematology 96, 1241-1251, 2017 | 136 | 2017 |
Estimating pediatric glomerular filtration rates in the era of chronic kidney disease staging A Mattman, S Eintracht, T Mock, G Schick, DW Seccombe, RM Hurley, ... Journal of the American Society of Nephrology 17 (2), 487-496, 2006 | 109 | 2006 |
Cross-sectional associations of serum perfluoroalkyl acids and thyroid hormones in US adults: variation according to TPOAb and iodine status (NHANES 2007–2008) GM Webster, SA Rauch, NS Marie, A Mattman, BP Lanphear, SA Venners Environmental health perspectives 124 (7), 935-942, 2016 | 96 | 2016 |
Element of caution: a case of reversible cytopenias associated with excessive zinc supplementation JA Irving, A Mattman, G Lockitch, K Farrell, LD Wadsworth Cmaj 169 (2), 129-131, 2003 | 74 | 2003 |
Metformin induces reductions in plasma cobalamin and haptocorrin bound cobalamin levels in elderly diabetic patients S Leung, A Mattman, F Snyder, R Kassam, G Meneilly, E Nexo Clinical biochemistry 43 (9), 759-760, 2010 | 69 | 2010 |
Lyme disease diagnosed by alternative methods: a phenotype similar to that of chronic fatigue syndrome DM Patrick, RR Miller, JL Gardy, SM Parker, MG Morshed, TS Steiner, ... Clinical Infectious Diseases 61 (7), 1084-1091, 2015 | 52 | 2015 |
Alpha1-antitrypsin deficiency: a clinical-genetic overview RT Abboud, TN Nelson, B Jung, A Mattman The application of clinical genetics, 55-65, 2011 | 49 | 2011 |
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management S Parikh, A Goldstein, MK Koenig, F Scaglia, GM Enns, R Saneto, ... Mitochondrion 13 (6), 681-687, 2013 | 47 | 2013 |
Serum IgG subclass levels and risk of exacerbations and hospitalizations in patients with COPD FS Leitao Filho, SW Ra, A Mattman, RS Schellenberg, GJ Criner, ... Respiratory research 19, 1-10, 2018 | 46 | 2018 |
An evaluation of the decision‐making process regarding amniocentesis following a screen‐positive maternal serum screen result C Kobelka, A Mattman, S Langlois Prenatal Diagnosis: Published in Affiliation With the International Society …, 2009 | 44 | 2009 |