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Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Duncan CJA, Skouboe MK, Howarth S, Hollensen AK, Chen R, Børresen ML, Thompson BJ, Stremenova Spegarova J, Hatton CF, Stæger FF, Andersen MK, Whittaker J, Paludan SR, Jørgensen SE, Thomsen MK, Mikkelsen JG, Heilmann C, Buhas D, Øbro NF, Bay JT, Marquart HV, de la Morena MT, Klejka JA, Hirschfeld M, Borgwardt L, Forss I, Masmas T, Poulsen A, Noya F, Rouleau G, Hansen T, Zhou S, Albrechtsen A, Alizadehfar R, Allenspach EJ, Hambleton S, Mogensen TH. Duncan CJA, et al. Among authors: rouleau g. J Exp Med. 2022 Jun 6;219(6):e20212427. doi: 10.1084/jem.20212427. Epub 2022 Apr 20. J Exp Med. 2022. PMID: 35442417 Free PMC article.
Genetics of Intracranial Aneurysms.
Zhou S, Dion PA, Rouleau GA. Zhou S, et al. Stroke. 2018 Mar;49(3):780-787. doi: 10.1161/STROKEAHA.117.018152. Epub 2018 Feb 6. Stroke. 2018. PMID: 29437983 Review. No abstract available.
Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.
McAdam A, Ito YA, Richard M, Spiegelman D, Rochefort D, Xiong L, Oskoui M, Zielinski D, Rouleau GA, Zhou S; Care4Rare Canada Consortium; Boykott KM, De Bie I. McAdam A, et al. Among authors: rouleau ga. Am J Med Genet A. 2024 Dec 23:e63974. doi: 10.1002/ajmg.a.63974. Online ahead of print. Am J Med Genet A. 2024. PMID: 39713852
Exome sequencing reveals SPG11 mutations causing juvenile ALS.
Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A, Tranchant C, Dion P, Rouleau GA. Daoud H, et al. Neurobiol Aging. 2012 Apr;33(4):839.e5-9. doi: 10.1016/j.neurobiolaging.2011.11.012. Epub 2011 Dec 10. Neurobiol Aging. 2012. PMID: 22154821
Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.
Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, Rouleau GA. Ambalavanan A, et al. Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):335-340. doi: 10.1002/ajmg.b.32683. Epub 2018 Oct 30. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 30378261
Genetic architecture and adaptations of Nunavik Inuit.
Zhou S, Xie P, Quoibion A, Ambalavanan A, Dionne-Laporte A, Spiegelman D, Bourassa CV, Xiong L, Dion PA, Rouleau GA. Zhou S, et al. Proc Natl Acad Sci U S A. 2019 Aug 6;116(32):16012-16017. doi: 10.1073/pnas.1810388116. Epub 2019 Jul 22. Proc Natl Acad Sci U S A. 2019. PMID: 31332017 Free PMC article.
1,065 results