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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. Deveault C, et al. Among authors: mitchell ga. Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22. Hum Mutat. 2011. PMID: 21344540
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E. Billingsley G, et al. Among authors: mitchell ga. J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472660
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. Among authors: mitchell ga. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.
A bouncing cosmology from VECROs.
Brandenberger R, Mitchell GA. Brandenberger R, et al. Among authors: mitchell ga. Eur Phys J C Part Fields. 2023;83(4):308. doi: 10.1140/epjc/s10052-023-11501-2. Epub 2023 Apr 20. Eur Phys J C Part Fields. 2023. PMID: 37096219 Free PMC article.
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Fahiminiya S, Oikonomopoulos S, Rivard GE, Gandhi M, Scott P, Montpetit A, Chen SH, Park K, Vezina C, Ragoussis J, Carvalho CMB, Mitchell GA, Soucy JF, Gauthier J. Fahiminiya S, et al. Among authors: mitchell ga. Haemophilia. 2023 May;29(3):921-924. doi: 10.1111/hae.14771. Epub 2023 Mar 10. Haemophilia. 2023. PMID: 36897533 Free PMC article. No abstract available.
264 results