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The human gene connectome as a map of short cuts for morbid allele discovery.
Itan Y, Zhang SY, Vogt G, Abhyankar A, Herman M, Nitschke P, Fried D, Quintana-Murci L, Abel L, Casanova JL. Itan Y, et al. Among authors: casanova jl. Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63. doi: 10.1073/pnas.1218167110. Epub 2013 Mar 18. Proc Natl Acad Sci U S A. 2013. PMID: 23509278 Free PMC article.
Can the impact of human genetic variations be predicted?
Itan Y, Casanova JL. Itan Y, et al. Among authors: casanova jl. Proc Natl Acad Sci U S A. 2015 Sep 15;112(37):11426-7. doi: 10.1073/pnas.1515057112. Epub 2015 Sep 8. Proc Natl Acad Sci U S A. 2015. PMID: 26351682 Free PMC article. No abstract available.
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.
Kerner G, Ramirez-Alejo N, Seeleuthner Y, Yang R, Ogishi M, Cobat A, Patin E, Quintana-Murci L, Boisson-Dupuis S, Casanova JL, Abel L. Kerner G, et al. Among authors: casanova jl. Proc Natl Acad Sci U S A. 2019 May 21;116(21):10430-10434. doi: 10.1073/pnas.1903561116. Epub 2019 May 8. Proc Natl Acad Sci U S A. 2019. PMID: 31068474 Free PMC article.
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.
Rapaport F, Boisson B, Gregor A, Béziat V, Boisson-Dupuis S, Bustamante J, Jouanguy E, Puel A, Rosain J, Zhang Q, Zhang SY, Gleeson JG, Quintana-Murci L, Casanova JL, Abel L, Patin E. Rapaport F, et al. Among authors: casanova jl. Proc Natl Acad Sci U S A. 2021 Jan 19;118(3):e2001248118. doi: 10.1073/pnas.2001248118. Proc Natl Acad Sci U S A. 2021. PMID: 33408250 Free PMC article.
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Al Ali F, Khan T, Ata M, Rozen L, Demulder A, Bastard P, Gruber C, Roynard M, Seeleuthener Y, Rapaport F, Bigio B, Chrabieh M, Sng D, Berteloot L, Boddaert N, Rozenberg F, Al-Muhsen S, Bertoli-Avella A, Abel L, Bogunovic D, Marr N, Mansouri D, Al Mutairi F, Béziat V, Weil D, Mahdaviani SA, Ferster A, Zhang SY, Reversade B, Boisson-Dupuis S, Casanova JL, Bustamante J. Le Voyer T, et al. Among authors: casanova jl. Proc Natl Acad Sci U S A. 2021 Apr 13;118(15):e2102804118. doi: 10.1073/pnas.2102804118. Proc Natl Acad Sci U S A. 2021. PMID: 33876776 Free PMC article.
The human gene damage index as a gene-level approach to prioritizing exome variants.
Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL. Itan Y, et al. Among authors: casanova jl. Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20. doi: 10.1073/pnas.1518646112. Epub 2015 Oct 19. Proc Natl Acad Sci U S A. 2015. PMID: 26483451 Free PMC article.
1,015 results