Connection

PAWEL STANKIEWICZ to High-Throughput Nucleotide Sequencing

This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about High-Throughput Nucleotide Sequencing.
  1. Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet. 2020 06; 106(1):e99.
    View in: PubMed
    Score: 0.366
  2. Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset. Hum Genomics. 2021 12 20; 15(1):72.
    View in: PubMed
    Score: 0.102
  3. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776.
    View in: PubMed
    Score: 0.092
  4. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941.
    View in: PubMed
    Score: 0.091
  5. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2017 01; 25(1):73-78.
    View in: PubMed
    Score: 0.018
  6. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
    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.