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CCDC88B is required for pathogenesis of inflammatory bowel disease.
Fodil N, Moradin N, Leung V, Olivier JF, Radovanovic I, Jeyakumar T, Flores Molina M, McFarquhar A, Cayrol R, Bozec D, Shoukry NH, Kubo M, Dimitrieva J, Louis E, Theatre E, Dahan S, Momozawa Y, Georges M, Yeretssian G, Gros P. Fodil N, et al. Among authors: mcfarquhar a. Nat Commun. 2017 Oct 13;8(1):932. doi: 10.1038/s41467-017-01381-y. Nat Commun. 2017. PMID: 29030607 Free PMC article.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Among authors: mcfarquhar a. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
Ischemic Jejunal Stricture Secondary to Polycythemia Vera.
McFarquhar A, Bahdi F, Xu Y, Lu LB. McFarquhar A, et al. Dig Dis Sci. 2023 Apr;68(4):1077-1079. doi: 10.1007/s10620-022-07766-4. Epub 2023 Jan 7. Dig Dis Sci. 2023. PMID: 36609730 No abstract available.
Child abuse associates with increased recruitment of perineuronal nets in the ventromedial prefrontal cortex: a possible implication of oligodendrocyte progenitor cells.
Tanti A, Belliveau C, Nagy C, Maitra M, Denux F, Perlman K, Chen F, Mpai R, Canonne C, Théberge S, McFarquhar A, Davoli MA, Belzung C, Turecki G, Mechawar N. Tanti A, et al. Among authors: mcfarquhar a. Mol Psychiatry. 2022 Mar;27(3):1552-1561. doi: 10.1038/s41380-021-01372-y. Epub 2021 Nov 19. Mol Psychiatry. 2022. PMID: 34799691 Free PMC article.
Spondylometaphyseal Dysplasia, Corner Fracture Type.
England J, McFarquhar A, Campeau PM. England J, et al. Among authors: mcfarquhar a. 2020 Mar 19. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Mar 19. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 32200603 Free Books & Documents. Review.