WEIMIN BI to Genetic Association Studies
This is a "connection" page, showing publications WEIMIN BI has written about Genetic Association Studies.
Connection Strength
0.491
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Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 05; 39(5):666-675.
Score: 0.114
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Novel EED mutation in patient with Weaver syndrome. Am J Med Genet A. 2017 Feb; 173(2):541-545.
Score: 0.105
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CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 08; 170(8):2206-11.
Score: 0.102
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Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
Score: 0.101
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.031
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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: 0.021
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.017