Harvard Catalyst Profiles

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Pankaj B. Agrawal, M.D., M.B.,B.S.

Co-Author

This page shows the publications co-authored by Pankaj Agrawal and Tim Yu.
Connection Strength

2.024
  1. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040.
    View in: PubMed
    Score: 0.238
  2. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 04; 182(4):780-784.
    View in: PubMed
    Score: 0.221
  3. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744.
    View in: PubMed
    Score: 0.218
  4. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652.
    View in: PubMed
    Score: 0.216
  5. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619.
    View in: PubMed
    Score: 0.213
  6. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405.
    View in: PubMed
    Score: 0.208
  7. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 Oct; 9(10):e1809.
    View in: PubMed
    Score: 0.062
  8. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375.
    View in: PubMed
    Score: 0.060
  9. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29.
    View in: PubMed
    Score: 0.057
  10. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29.
    View in: PubMed
    Score: 0.057
  11. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674.
    View in: PubMed
    Score: 0.054
  12. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
    View in: PubMed
    Score: 0.053
  13. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 01 03; 104(1):76-93.
    View in: PubMed
    Score: 0.051
  14. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630.
    View in: PubMed
    Score: 0.050
  15. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4).
    View in: PubMed
    Score: 0.050
  16. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225.
    View in: PubMed
    Score: 0.049
  17. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2).
    View in: PubMed
    Score: 0.045
  18. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818.
    View in: PubMed
    Score: 0.045
  19. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008.
    View in: PubMed
    Score: 0.043
  20. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec; 56(12):678-82.
    View in: PubMed
    Score: 0.036
Connection Strength
The connection strength for co-authors is the sum of the scores for each of their shared publications.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.