Connection

Co-Authors

This is a "connection" page, showing publications co-authored by FERNANDO SCAGLIA and CHARUL GIJAVANEKAR.
Connection Strength

1.219
  1. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87.
    View in: PubMed
    Score: 0.236
  2. Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. Am J Med Genet A. 2024 03; 194(3):e63461.
    View in: PubMed
    Score: 0.231
  3. Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Am J Med Genet A. 2023 05; 191(5):1366-1372.
    View in: PubMed
    Score: 0.219
  4. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 01; 188(1):259-268.
    View in: PubMed
    Score: 0.199
  5. Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.
    View in: PubMed
    Score: 0.186
  6. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 06 03; 145(5):e36-e40.
    View in: PubMed
    Score: 0.052
  7. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110.
    View in: PubMed
    Score: 0.052
  8. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
    View in: PubMed
    Score: 0.043
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.