Connection

RONIT MAROM to Intellectual Disability

This is a "connection" page, showing publications RONIT MAROM has written about Intellectual Disability.
Connection Strength

1.102
  1. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
    View in: PubMed
    Score: 0.457
  2. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 10; 38(10):1365-1371.
    View in: PubMed
    Score: 0.343
  3. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
    View in: PubMed
    Score: 0.112
  4. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 12; 21(12):2713-2722.
    View in: PubMed
    Score: 0.098
  5. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 07 05; 103(1):154-162.
    View in: PubMed
    Score: 0.092
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.