Connection

LORRAINE POTOCKI to Haploinsufficiency

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

0.327
  1. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. Am J Med Genet A. 2021 03; 185(3):836-840.
    View in: PubMed
    Score: 0.148
  2. Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. Am J Med Genet A. 2017 Mar; 173(3):716-720.
    View in: PubMed
    Score: 0.113
  3. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 10; 135(10):1161-74.
    View in: PubMed
    Score: 0.027
  4. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713.
    View in: PubMed
    Score: 0.020
  5. Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol. 2011 Jun; 127(6):1579-86.
    View in: PubMed
    Score: 0.019
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.