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Academic Journal

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.

Authors : Chang, Shao-Yu¹ (AUTHOR); Kambe, Naotomo² (AUTHOR); Fan, Wen-Lang^3,4 (AUTHOR)

Source: Pediatric Rheumatology. 10/3/2022, Vol. 20 Issue 1, p1-9. 9p.

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Academic Journal

Calculating variant penetrance from family history of disease and average family size in population-scale data.

Authors : Spargo, Thomas P.¹ (AUTHOR); Opie-Martin, Sarah¹ (AUTHOR); Bowles, Harry¹ (AUTHOR)

Source: Genome Medicine. 12/15/2022, Vol. 14 Issue 1, p1-13. 13p.

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Academic Journal

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

Authors : Schramm, Catherine¹ (AUTHOR); Charbonnier, Camille¹ (AUTHOR); Zaréa, Aline² (AUTHOR)

Source: Genome Medicine. 8/4/2022, Vol. 14 Issue 1, p1-15. 15p.

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Academic Journal

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

Authors : Schramm, Catherine¹ (AUTHOR); Charbonnier, Camille¹ (AUTHOR); Zaréa, Aline² (AUTHOR)

Source: Genome Medicine. 8/3/2022, Vol. 14 Issue 1, p1-15. 15p.

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Academic Journal

Candidate Modifier Genes for the Penetrance of Leber's Hereditary Optic Neuropathy.

Authors : Cheng, Hui-Chen^1,2,3,4,5 (AUTHOR); Chi, Sheng-Chu² (AUTHOR); Liang, Chiao-Ying⁶ (AUTHOR)

Source: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 19, p11891. 13p.

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Academic Journal

Risk‐reducing mastectomy decisions among women with mutations in high‐ and moderate‐ penetrance breast cancer susceptibility genes.

Authors : Comeaux, Jacob G.¹ (AUTHOR) ; Culver, Julie O.¹ (AUTHOR); Lee, John E.² (AUTHOR)

Source: Molecular Genetics & Genomic Medicine. Oct2022, Vol. 10 Issue 10, p1-11. 11p.

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Academic Journal

Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.

Authors : Xie, Juan-Juan¹ (AUTHOR); Zhang, Guo-Wei¹ (AUTHOR); Cui, Hai-Yue¹ (AUTHOR)

Source: Ophthalmic Genetics. Apr2022, Vol. 43 Issue 2, p240-247. 8p.

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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Authors : Dumont, Martine¹ (AUTHOR) ; Weber-Lassalle, Nana² (AUTHOR) ; Joly-Beauparlant, Charles¹ (AUTHOR)

Source: Cancers. Jul2022, Vol. 14 Issue 14, pN.PAG-N.PAG. 23p.

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Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

Authors : Schramm, Catherine¹ (AUTHOR); Charbonnier, Camille¹ (AUTHOR); Zaréa, Aline² (AUTHOR)

Source: Genome Medicine. 6/27/2022, Vol. 14 Issue 1, p1-14. 14p.

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Academic Journal

PyToxo: a Python tool for calculating penetrance tables of high-order epistasis models.

Authors : González-Seoane, Borja¹ (AUTHOR); Ponte-Fernández, Christian² (AUTHOR) ; González-Domínguez, Jorge² (AUTHOR)

Source: BMC Bioinformatics. 4/2/2022, Vol. 23 Issue 1, p1-13. 13p.

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فلترة النتائج

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.

Calculating variant penetrance from family history of disease and average family size in population-scale data.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

Candidate Modifier Genes for the Penetrance of Leber's Hereditary Optic Neuropathy.

Risk‐reducing mastectomy decisions among women with mutations in high‐ and moderate‐ penetrance breast cancer susceptibility genes.

Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.

PyToxo: a Python tool for calculating penetrance tables of high-order epistasis models.

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