PubRank

Sylvia S Bottomley

Author PubWeight™ 13.37‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet 2009 2.37
2 Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer 2010 1.43
3 5-Aminolevulinic acid synthase: mechanism, mutations and medicine. Biochim Biophys Acta 2003 1.18
4 A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood 2013 1.03
5 Analysis of mitochondrial DNA in 104 patients with myelodysplastic syndromes. Exp Hematol 2008 0.98
6 The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. Int J Biochem Cell Biol 2004 0.90
7 Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases. Am J Hematol 2006 0.85
8 X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. Am J Hematol 2013 0.83
9 X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells Mol Dis 2006 0.83
10 Copper deficiency after gastric surgery: a reason for caution. Am J Med Sci 2009 0.80
11 Purification and characterization of sideroblasts from patients with acquired and hereditary sideroblastic anaemia. Br J Haematol 2008 0.78
12 Myelopathy due to copper deficiency. Neurology 2004 0.78
13 Hypocupremia associated with prior vitamin B12 deficiency. Am J Hematol 2007 0.77
14 A confusing case of confusion. Acute porphyrias. J Okla State Med Assoc 2008 0.75
15 Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients. Am J Hematol 2011 0.75