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Catherine A Brownstein, Ph.D.

Co-Author

This page shows the publications co-authored by Catherine Brownstein and Ingrid Holm.
Connection Strength

1.239
  1. 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: 0.224
  2. SCN1A variants associated with sudden infant death syndrome. Epilepsia. 2018 04; 59(4):e56-e62.
    View in: PubMed
    Score: 0.183
  3. Data sharing in the undiagnosed diseases network. Hum Mutat. 2015 Oct; 36(10):985-8.
    View in: PubMed
    Score: 0.153
  4. An assessment of clinician and researcher needs for support in the era of genomic medicine. Per Med. 2014 Aug; 11(6):569-579.
    View in: PubMed
    Score: 0.142
  5. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53.
    View in: PubMed
    Score: 0.138
  6. Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genet Med. 2022 04; 24(4):839-850.
    View in: PubMed
    Score: 0.059
  7. A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. Eur J Med Genet. 2020 Sep; 63(9):104002.
    View in: PubMed
    Score: 0.054
  8. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29.
    View in: PubMed
    Score: 0.053
  9. 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: 0.053
  10. The role of sodium channels in sudden unexpected death in pediatrics. Mol Genet Genomic Med. 2020 08; 8(8):e1309.
    View in: PubMed
    Score: 0.053
  11. Plain-language medical vocabulary for precision diagnosis. Nat Genet. 2018 04; 50(4):474-476.
    View in: PubMed
    Score: 0.046
  12. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Oct; 75(10):981-997.
    View in: PubMed
    Score: 0.041
  13. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21.
    View in: PubMed
    Score: 0.038
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.