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Page 1
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: isabella cr. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Lectin-Seq: A method to profile lectin-microbe interactions in native communities.
McPherson RL, Isabella CR, Walker RL, Sergio D, Bae S, Gaca T, Raman S, Nguyen LTT, Wesener DA, Halim M, Wuo MG, Dugan A, Kerby R, Ghosh S, Rey FE, Dhennezel C, Pishchany G, Lensch V, Vlamakis H, Alm EJ, Xavier RJ, Kiessling LL. McPherson RL, et al. Among authors: isabella cr. Sci Adv. 2023 Jul 28;9(30):eadd8766. doi: 10.1126/sciadv.add8766. Epub 2023 Jul 28. Sci Adv. 2023. PMID: 37506208 Free PMC article.
Stereoelectronic Effects Impact Glycan Recognition.
McMahon CM, Isabella CR, Windsor IW, Kosma P, Raines RT, Kiessling LL. McMahon CM, et al. Among authors: isabella cr. J Am Chem Soc. 2020 Feb 5;142(5):2386-2395. doi: 10.1021/jacs.9b11699. Epub 2020 Jan 24. J Am Chem Soc. 2020. PMID: 31930911 Free PMC article.
Human oral lectin ZG16B acts as a cell wall polysaccharide probe to decode host-microbe interactions with oral commensals.
Ghosh S, Ahearn CP, Isabella CR, Marando VM, Dodge GJ, Bartlett H, McPherson RL, Dugan AE, Jain S, Neznanova L, Tettelin H, Putnik R, Grimes CL, Ruhl S, Kiessling LL, Imperiali B. Ghosh S, et al. Among authors: isabella cr. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2216304120. doi: 10.1073/pnas.2216304120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216558 Free PMC article.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. Slaats GG, et al. Among authors: isabella cr. J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21. J Med Genet. 2016. PMID: 26490104 Free PMC article.
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Tuz K, et al. Among authors: isabella cr. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360808 Free PMC article.