Connection

JENNIFER POSEY to Haploinsufficiency

This is a "connection" page, showing publications JENNIFER POSEY has written about Haploinsufficiency.
Connection Strength

0.258
  1. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 10; 23(10):1901-1911.
    View in: PubMed
    Score: 0.168
  2. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
    View in: PubMed
    Score: 0.048
  3. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
    View in: PubMed
    Score: 0.042
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.