Sylvia Stakle Bottomley MD FACP

PubMed

• X-linked sideroblastic anemia in females.
  Sarah Ducamp, Dean R Campagna, Anoop K Sendamarai, Paul J Schmidt, Harrison K Tsai
  Blood. 2025-04-03
• Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiency.
  Nolan R Bick, Margaret B Dreishpoon, Ava Perry, Anna Rogachevskaya, Sylvia S Bottomley
  The Journal of Biological Chemistry. 2024-12-01
• 13 citations
  SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
  Matthew M. Heeney, Simon Berhe, Dean R. Campagna, Joseph H. Oved, Peter Kurre
  Human Mutation. 2021-08-05

Journal Articles

• The Phenotypic Spectrum of Germline YARS2 Variants: From Isolated Sideroblastic Anemia to Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia 2  
  Matthew M Heeney, Gregory A Hale, David P Steensma, Mark D Fleming, Colin A Sieff, Lee M Hilliard, Sylvia S Bottomley, Janet L Kwiatkowski, Haematologica

Other

• Recurrent Heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) Mutation in Patients with Syndromic Congenital Sideroblastic Anemia of Variable Clinical Severity 
  Sylvia Bottomley, MD, Haematologica
  https://www.doximity.com/articles/1aabd4eb-7cdc-4aec-b509-cfb921b7c3af
  UpToDate, Wolters Kluwer Health - 2013-03-04
• Recurrent Heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) Mutation in Patients with Syndromic Congenital Sideroblastic Anemia of Variable Clinical Severity 
  Sylvia Bottomley, MD, Haematologica
  https://www.doximity.com/articles/1aabd4eb-7cdc-4aec-b509-cfb921b7c3af
  UpToDate, Wolters Kluwer Health - 2012-06-27
• Recurrent Heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) Mutation in Patients with Syndromic Congenital Sideroblastic Anemia of Variable Clinical Severity 
  Sylvia Bottomley, MD, Haematologica
  https://www.doximity.com/articles/1aabd4eb-7cdc-4aec-b509-cfb921b7c3af
  UpToDate, Wolters Kluwer Health - 2012-10-31