CHRISTOPHER GROCHOWSKI to Polymorphism, Single Nucleotide
This is a "connection" page, showing publications CHRISTOPHER GROCHOWSKI has written about Polymorphism, Single Nucleotide.
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Validation of Single-Nucleotide Mosaic Variants Through Droplet Digital PCR. Curr Protoc. 2024 May; 4(5):e1041.
Score: 0.490
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Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet. 2020 06; 106(1):e99.
Score: 0.093
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Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet. 2014 Feb; 133(2):235-43.
Score: 0.059
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Exome Sequencing in Individuals with Isolated Biliary Atresia. Sci Rep. 2020 02 17; 10(1):2709.
Score: 0.023
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Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Hum Mutat. 2020 05; 41(5):973-982.
Score: 0.023
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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80.
Score: 0.023
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A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. PLoS Genet. 2018 08; 14(8):e1007532.
Score: 0.021