PAWEL STANKIEWICZ to Genetic Association Studies
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Genetic Association Studies.
Connection Strength
1.516
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Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 10; 96(4):366-370.
Score: 0.462
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 09; 170(9):2440-4.
Score: 0.374
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Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family. Hum Mutat. 2026; 2026:7278477.
Score: 0.188
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Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 10; 20(10):995-1002.
Score: 0.126
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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013 Dec; 161A(12):2953-63.
Score: 0.077
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SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec; 162B(8):832-40.
Score: 0.077
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.063
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
Score: 0.060
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Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia. BMC Pediatr. 2020 06 29; 20(1):320.
Score: 0.031
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The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med. 2016 11; 18(11):1111-1118.
Score: 0.023
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Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797.
Score: 0.019
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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81.
Score: 0.015