Connection

CHARUL GIJAVANEKAR to Humans

This is a "connection" page, showing publications CHARUL GIJAVANEKAR has written about Humans.
Connection Strength

0.121
  1. Clinical Untargeted Metabolomics as a Functional Screen to Improve Variant Classification. Curr Protoc. 2023 Apr; 3(4):e720.
    View in: PubMed
    Score: 0.023
  2. PCR detection of nearly any dengue virus strain using a highly sensitive primer 'cocktail'. FEBS J. 2011 May; 278(10):1676-87.
    View in: PubMed
    Score: 0.010
  3. Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency. Am J Med Genet A. 2025 Jun; 197(6):e64014.
    View in: PubMed
    Score: 0.007
  4. Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes. Mol Genet Metab. 2025 Mar; 144(3):109009.
    View in: PubMed
    Score: 0.006
  5. 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: 0.006
  6. 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: 0.006
  7. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Mol Genet Metab. 2023 07; 139(3):107624.
    View in: PubMed
    Score: 0.006
  8. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. Am J Hum Genet. 2023 06 01; 110(6):963-978.
    View in: PubMed
    Score: 0.006
  9. 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: 0.006
  10. 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: 0.005
  11. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
    View in: PubMed
    Score: 0.005
  12. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924.
    View in: PubMed
    Score: 0.005
  13. 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: 0.005
  14. 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: 0.005
  15. Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism. JAMA Netw Open. 2021 07 01; 4(7):e2114155.
    View in: PubMed
    Score: 0.005
  16. 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: 0.005
  17. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154.
    View in: PubMed
    Score: 0.005
  18. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
    View in: PubMed
    Score: 0.004
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.