CHRISTOPHER GROCHOWSKI to Genomics
This is a "connection" page, showing publications CHRISTOPHER GROCHOWSKI has written about Genomics.
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Structural Variants: Mechanisms, Mapping, and Interpretation in Human Genetics. Genes (Basel). 2025 Jul 29; 16(8).
Score: 0.129
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
Score: 0.099
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
Score: 0.084
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723.
Score: 0.026
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Complex genomic rearrangements: an underestimated cause of rare diseases. Trends Genet. 2022 11; 38(11):1134-1146.
Score: 0.026
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Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. Eur J Med Genet. 2021 Dec; 64(12):104367.
Score: 0.025
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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: 0.022