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Academic Journal

Comparison of culture media reveals that non‐essential amino acids strongly affect the phenotype of human monocyte‐derived macrophages.

Authors : Antonsen, Kristian W.^1,2 (AUTHOR); Friis, Henriette N.¹ (AUTHOR); Sorensen, Boe S.^1,2 (AUTHOR)

Source: Immunology. Nov2023, Vol. 170 Issue 3, p344-358. 15p.

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Academic Journal

Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities.

Authors : Zhai, Weiqi¹ (AUTHOR); Huang, Xiaodi² (AUTHOR); Shen, Nan³ (AUTHOR)

Source: Briefings in Bioinformatics. Jul2023, Vol. 24 Issue 4, p1-10. 10p.

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Academic Journal

Spatio-temporal dynamics of microglia phenotype in human and murine cSVD: impact of acute and chronic hypertensive states.

Authors : Morton, Lorena¹ (AUTHOR); Arndt, Philipp^2,3 (AUTHOR); Garza, Alejandra P.¹ (AUTHOR)

Source: Acta Neuropathologica Communications. 12/19/2023, Vol. 11 Issue 1, p1-23. 23p.

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Academic Journal

Identification and analysis of individuals who deviate from their genetically-predicted phenotype.

Authors : Hawkes, Gareth¹ (AUTHOR); Yengo, Loic² (AUTHOR); Vedantam, Sailaja³ (AUTHOR)

Source: PLoS Genetics. 9/21/2023, Vol. 19 Issue 9, p1-19. 19p.

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Academic Journal

A C57BL/6J Fancg-KO Mouse Model Generated by CRISPR/Cas9 Partially Captures the Human Phenotype.

Authors : Shah, Ronak¹ (AUTHOR) ; van den Berk, Paul C. M.¹ (AUTHOR); Pritchard, Colin E. J.² (AUTHOR)

Source: International Journal of Molecular Sciences. Jul2023, Vol. 24 Issue 13, p11129. 15p.

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Academic Journal

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.

Authors : Henry, Olivia J.¹ (AUTHOR) ; Stödberg, Tommy^2,3 (AUTHOR); Båtelson, Sofia³ (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Jul2023, Vol. 11 Issue 7, p1-11. 11p.

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Academic Journal

SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome.

Authors : Cao, Kimberley^1,2 (AUTHOR) ; Plazzer, John-Paul¹ (AUTHOR); Macrae, Finlay^1,2 (AUTHOR)

Source: Hereditary Cancer in Clinical Practice. 12/8/2023, Vol. 21 Issue 1, p1-64. 64p.

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Academic Journal

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations.

Authors : Zhao, Wenjing^1,2,3 (AUTHOR); Zhang, Yinhong^1,2,3 (AUTHOR); Lv, Tao^1,2,3 (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Dec2023, Vol. 11 Issue 12, p1-8. 8p.

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Academic Journal

In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome.

Authors : Pham, Hung Manh^1,2 (AUTHOR); Nguyen, Duy Phuong^1,3 (AUTHOR); Ta, Thanh Dat¹ (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Dec2023, Vol. 11 Issue 12, p1-12. 12p.

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Academic Journal

Preoperative prediction of cholangiocyte phenotype hepatocellular carcinoma on contrast-enhanced MRI and the prognostic implication after hepatectomy.

Authors : Chen, Yidi¹ (AUTHOR); Chen, Jie¹ (AUTHOR); Yang, Chongtu¹ (AUTHOR)

Source: Insights into Imaging. 11/14/2023, Vol. 14 Issue 1, p1-14. 14p.

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Comparison of culture media reveals that non‐essential amino acids strongly affect the phenotype of human monocyte‐derived macrophages.

Phen2Disease: a phenotype-driven model for disease and gene prioritization by bidirectional maximum matching semantic similarities.

Spatio-temporal dynamics of microglia phenotype in human and murine cSVD: impact of acute and chronic hypertensive states.

Identification and analysis of individuals who deviate from their genetically-predicted phenotype.

A C57BL/6J Fancg-KO Mouse Model Generated by CRISPR/Cas9 Partially Captures the Human Phenotype.

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.

SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome.

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations.

In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome.

Preoperative prediction of cholangiocyte phenotype hepatocellular carcinoma on contrast-enhanced MRI and the prognostic implication after hepatectomy.

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