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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: casanova jl. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
Le Goff C, Mahaut C, Abhyankar A, Le Goff W, Serre V, Afenjar A, Destrée A, di Rocco M, Héron D, Jacquemont S, Marlin S, Simon M, Tolmie J, Verloes A, Casanova JL, Munnich A, Cormier-Daire V. Le Goff C, et al. Among authors: casanova jl. Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016. Nat Genet. 2011. PMID: 22158539
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R. Barcia G, et al. Among authors: casanova jl. Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21. Nat Genet. 2012. PMID: 23086397 Free PMC article.
Inborn errors of metabolism underlying primary immunodeficiencies.
Parvaneh N, Quartier P, Rostami P, Casanova JL, de Lonlay P. Parvaneh N, et al. Among authors: casanova jl. J Clin Immunol. 2014 Oct;34(7):753-71. doi: 10.1007/s10875-014-0076-6. Epub 2014 Aug 1. J Clin Immunol. 2014. PMID: 25081841 Review.
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.
The mutation significance cutoff: gene-level thresholds for variant predictions.
Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J, Cooper DN, Quintana-Murci L, Zhang SY, Abel L, Casanova JL. Itan Y, et al. Among authors: casanova jl. Nat Methods. 2016 Feb;13(2):109-10. doi: 10.1038/nmeth.3739. Nat Methods. 2016. PMID: 26820543 Free PMC article. No abstract available.
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium; Alkuraya FS, Casanova JL, Gleeson JG. Scott EM, et al. Among authors: casanova jl. Nat Genet. 2016 Sep;48(9):1071-6. doi: 10.1038/ng.3592. Epub 2016 Jul 18. Nat Genet. 2016. PMID: 27428751 Free PMC article.
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Maffucci P, Bigio B, Rapaport F, Cobat A, Borghesi A, Lopez M, Patin E, Bolze A, Shang L, Bendavid M, Scott EM, Stenson PD, Cunningham-Rundles C, Cooper DN, Gleeson JG, Fellay J, Quintana-Murci L, Casanova JL, Abel L, Boisson B, Itan Y. Maffucci P, et al. Among authors: casanova jl. Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):950-959. doi: 10.1073/pnas.1808403116. Epub 2018 Dec 27. Proc Natl Acad Sci U S A. 2019. PMID: 30591557 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.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Uğurlu Çi Men D, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Lainé C, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yılmaz E, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Işıkay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B. Wong HH, et al. Among authors: casanova jl. Am J Hum Genet. 2021 Jul 1;108(7):1301-1317. doi: 10.1016/j.ajhg.2021.05.003. Epub 2021 May 25. Am J Hum Genet. 2021. PMID: 34038740 Free PMC article.
1,010 results