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 Catherine Brownstein.
Connection Strength

4.141
  1. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6.
    View in: PubMed
    Score: 0.650
  2. A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. PLoS Genet. 2021 07; 17(7):e1009639.
    View in: PubMed
    Score: 0.243
  3. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. J Med Internet Res. 2021 03 16; 23(3):e21023.
    View in: PubMed
    Score: 0.238
  4. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718.
    View in: PubMed
    Score: 0.237
  5. Congenital Heart Defects Due to TAF1 Missense Variants. Circ Genom Precis Med. 2020 06; 13(3):e002843.
    View in: PubMed
    Score: 0.224
  6. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. . 2019 07; 179(7):1299-1303.
    View in: PubMed
    Score: 0.208
  7. 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
  8. 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: 0.199
  9. Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. J Autoimmun. 2018 01; 86:116-119.
    View in: PubMed
    Score: 0.187
  10. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet. 2017 09 15; 26(18):3545-3552.
    View in: PubMed
    Score: 0.187
  11. 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: 0.185
  12. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560.
    View in: PubMed
    Score: 0.180
  13. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 05; 55(5):761-765.
    View in: PubMed
    Score: 0.179
  14. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79.
    View in: PubMed
    Score: 0.172
  15. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30.
    View in: PubMed
    Score: 0.157
  16. 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: 0.143
  17. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. Eur J Hum Genet. 2021 Oct 28.
    View in: PubMed
    Score: 0.062
  18. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Med. 2021 Oct 14; 13(1):153.
    View in: PubMed
    Score: 0.062
  19. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. HGG Adv. 2021 Jul; 2(3).
    View in: PubMed
    Score: 0.060
  20. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133.
    View in: PubMed
    Score: 0.058
  21. 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
  22. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29.
    View in: PubMed
    Score: 0.057
  23. De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. BMC Med Genet. 2018 11 13; 19(1):197.
    View in: PubMed
    Score: 0.051
  24. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29.
    View in: PubMed
    Score: 0.049
  25. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788.
    View in: PubMed
    Score: 0.047
  26. 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
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.