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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
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.
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.
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Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, Bachmann-Gagescu R.
Phelps IG, et al. Among authors: isabella cr.
Genet Med. 2018 Feb;20(2):223-233. doi: 10.1038/gim.2017.94. Epub 2017 Aug 3.
Genet Med. 2018.
PMID: 28771248
Free PMC article.
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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.
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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.
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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.
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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.
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