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 Monica Wojcik.
Connection Strength

8.525
  1. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162.
    View in: PubMed
    Score: 0.972
  2. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud. 2020 10; 6(5).
    View in: PubMed
    Score: 0.924
  3. Genetic diagnosis in the fetus. J Perinatol. 2020 07; 40(7):997-1006.
    View in: PubMed
    Score: 0.886
  4. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619.
    View in: PubMed
    Score: 0.853
  5. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr. 2019 10; 213:235-240.
    View in: PubMed
    Score: 0.845
  6. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. . 2018 12; 176(12):2623-2629.
    View in: PubMed
    Score: 0.798
  7. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med. 2018 11; 20(11):1396-1404.
    View in: PubMed
    Score: 0.778
  8. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54.
    View in: PubMed
    Score: 0.740
  9. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 Aug 09.
    View in: PubMed
    Score: 0.245
  10. 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: 0.239
  11. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177.
    View in: PubMed
    Score: 0.233
  12. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021 01; 185(1):203-207.
    View in: PubMed
    Score: 0.231
  13. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. . 2019 07; 179(7):1299-1303.
    View in: PubMed
    Score: 0.209
  14. 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
  15. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143.
    View in: PubMed
    Score: 0.197
  16. Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Kidney Int Rep. 2020 Aug; 5(8):1316-1319.
    View in: PubMed
    Score: 0.056
  17. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews. 2020 04; 21(4):e286-e292.
    View in: PubMed
    Score: 0.056
  18. 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: 0.054
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.