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 Cynthia Gubbels.
Connection Strength

1.085
  1. 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: 0.220
  2. 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: 0.217
  3. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619.
    View in: PubMed
    Score: 0.213
  4. 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
  5. 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
  6. 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: 0.059
  7. 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: 0.053
  8. 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
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.