PAWEL STANKIEWICZ to Whole Genome Sequencing
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Whole Genome Sequencing.
Connection Strength
0.467
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Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders. Hum Genomics. 2026 04 30; 20(1).
Score: 0.206
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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes. Genome Med. 2025 10 24; 17(1):129.
Score: 0.199
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Deciphering the complexity of simple chromosomal insertions by genome sequencing. Hum Genet. 2021 Feb; 140(2):361-380.
Score: 0.035
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.028