Connection

CHRISTINE ENG to Haploinsufficiency

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

0.371
  1. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386.
    View in: PubMed
    Score: 0.120
  2. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat. 2013 Feb; 34(2):385-94.
    View in: PubMed
    Score: 0.089
  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: 0.040
  4. DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.
    View in: PubMed
    Score: 0.035
  5. De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. Hum Genet. 2018 Mar; 137(3):257-264.
    View in: PubMed
    Score: 0.032
  6. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Am J Med Genet A. 2017 Oct; 173(10):2680-2689.
    View in: PubMed
    Score: 0.031
  7. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3182-6.
    View in: PubMed
    Score: 0.023
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.