Connection

OLIVIER LICHTARGE to Genetic Predisposition to Disease

This is a "connection" page, showing publications OLIVIER LICHTARGE has written about Genetic Predisposition to Disease.
  1. A method to delineate de novo missense variants across pathways prioritizes genes linked to autism. Sci Transl Med. 2021 05 19; 13(594).
    View in: PubMed
    Score: 0.090
  2. CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation. Hum Mutat. 2019 09; 40(9):1436-1454.
    View in: PubMed
    Score: 0.079
  3. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
    View in: PubMed
    Score: 0.072
  4. DISCOVERY OF FUNCTIONAL AND DISEASE PATHWAYS BY COMMUNITY DETECTION IN PROTEIN-PROTEIN INTERACTION NETWORKS. Pac Symp Biocomput. 2017; 22:336-347.
    View in: PubMed
    Score: 0.066
  5. CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 09; 40(9):1373-1391.
    View in: PubMed
    Score: 0.020
  6. Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Hum Mutat. 2019 09; 40(9):1546-1556.
    View in: PubMed
    Score: 0.020
  7. Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. Hum Mutat. 2019 09; 40(9):1612-1622.
    View in: PubMed
    Score: 0.020
  8. Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5. Hum Mutat. 2019 09; 40(9):1474-1485.
    View in: PubMed
    Score: 0.020
  9. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. Hum Mutat. 2019 09; 40(9):1330-1345.
    View in: PubMed
    Score: 0.020
  10. Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. Hum Mutat. 2019 09; 40(9):1314-1320.
    View in: PubMed
    Score: 0.020
  11. Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14.
    View in: PubMed
    Score: 0.018
  12. Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. Hum Mutat. 2017 09; 38(9):1042-1050.
    View in: PubMed
    Score: 0.017
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.