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The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital.
Mittal N, Mina DS, McGillis L, Weinrib A, Slepian PM, Rachinsky M, Buryk-Iggers S, Laflamme C, Lopez-Hernandez L, Hussey L, Katz J, McLean L, Rozenberg D, Liu L, Tse Y, Parker C, Adler A, Charames G, Bleakney R, Veillette C, Nielson CJ, Tavares S, Varriano S, Guzman J, Faghfoury H, Clarke H. Mittal N, et al. Among authors: faghfoury h. Orphanet J Rare Dis. 2021 Aug 10;16(1):357. doi: 10.1186/s13023-021-01962-7. Orphanet J Rare Dis. 2021. PMID: 34376220 Free PMC article.
Ensuring timely genetic diagnosis in adults.
Faghfoury H, Guerin A. Faghfoury H, et al. CMAJ. 2023 Mar 20;195(11):E413-E414. doi: 10.1503/cmaj.221652. CMAJ. 2023. PMID: 37072235 Free PMC article. No abstract available.
PhenoTips: patient phenotyping software for clinical and research use.
Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M. Girdea M, et al. Among authors: faghfoury h. Hum Mutat. 2013 Aug;34(8):1057-65. doi: 10.1002/humu.22347. Epub 2013 May 24. Hum Mutat. 2013. PMID: 23636887
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J. Shickh S, et al. Among authors: faghfoury h. J Med Genet. 2021 Apr;58(4):275-283. doi: 10.1136/jmedgenet-2020-106936. Epub 2020 Jun 24. J Med Genet. 2021. PMID: 32581083 Free PMC article.
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS. Fung WL, et al. Among authors: faghfoury h. Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8. Genet Med. 2015. PMID: 25569435 Free PMC article. Review.
46 results