Connection

SARAH NICHOLAS to Phenotype

This is a "connection" page, showing publications SARAH NICHOLAS has written about Phenotype.
Connection Strength

0.133
  1. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
    View in: PubMed
    Score: 0.068
  2. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. Am J Hum Genet. 2017 02 02; 100(2):185-192.
    View in: PubMed
    Score: 0.031
  3. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2019 01; 21(1):161-172.
    View in: PubMed
    Score: 0.017
  4. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 04; 20(4):464-469.
    View in: PubMed
    Score: 0.016
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.