What's New

Last Posted: Feb 14, 2019

• Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
  Ahrens-Nicklas Rebecca C et al. Journal of inherited metabolic disease 2019 Jan 42(1) 140-146
• Thalassemia Management: Balancing Blood and Iron
  Public Health Webinar Series on Blood Disorders. Feb 28, 2019 2:00 PM - 3:00 PM EST
• Clinical Classification, Screening and Diagnosis for Thalassemia.
  Viprakasit Vip et al. Hematology/oncology clinics of North America 2018 32(2) 193-211
• Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
  Brandão Rita D et al. International journal of cancer 2019 Jan
• Human Molecular Genetics Has Not Yet Contributed to Measurable Public Health Advances.
  Paneth Nigel et al. Perspectives in biology and medicine 2018 61(4) 537-549
• Invasive molecular prenatal diagnosis of alpha and beta thalassemia among Hakka pregnant women.
  Wu Heming et al. Medicine 2018 Dec 97(52) e13557
• Clinical and Molecular Features of Feline Foamy Virus and Feline Leukemia Virus Co-Infection in Naturally-Infected Cats.
  Cavalcante Liliane T F et al. Viruses 2018 Dec 10(12)
• The current state of sickle cell trait: implications for reproductive and genetic counseling.
  Pecker Lydia H et al. Hematology. American Society of Hematology. Education Program 2018 Nov 2018(1) 474-481
• Inherited hemolytic anemia: a possessive beginner's guide.
  Mohandas Narla et al. Hematology. American Society of Hematology. Education Program 2018 Nov 2018(1) 377-381
• Measuring success: utility of biomarkers in sickle cell disease clinical trials and care.
  Kalpatthi Ram et al. Hematology. American Society of Hematology. Education Program 2018 Nov 2018(1) 482-492
• Relationship Between Social Determinants of Health and the Thalassemia Prenatal Diagnosis Test in Zahedan, South Eastern Iran.
  Sargolzaie Narjes et al. Hemoglobin 2018 Nov 1-5
• Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
  Frey Melissa K et al. Cancer 2018 Nov
• Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.
  Fu Chunyun et al. Scientific reports 2018 8(1) 833
• Prevalence of inherited blood disorders and associations with malaria and anemia in Malawian children.
  McGann Patrick T et al. Blood advances 2018 Nov 2(21) 3035-3044
• Who is more likely to develop CKD?
  NIDDK Information, 2018