JENNIFER POSEY to Heterozygote
This is a "connection" page, showing publications JENNIFER POSEY has written about Heterozygote.
Connection Strength
0.205
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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 10; 23(10):1901-1911.
Score: 0.039
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Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.039
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Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 01; 182(1):38-52.
Score: 0.035
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Perturbations of BMP/TGF-? and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet. 2018 10; 55(10):675-684.
Score: 0.032
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.032
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POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3.
Score: 0.027