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Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole exome sequencing. Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath G, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont R, Majewski J, Parboosingh J, Narayan Prasad A, Rupar T, Schwartzentruber J, Smith AC, Tétreault M, Micheil Innes A, Boycott KM. Clin Genet. 2017 Feb 7. doi: 10.1111/cge.12987. [Epub ahead of print] PMID: 28170084
White matter structural network abnormalities underlie executive dysfunction in amyotrophic lateral sclerosis. Dimond D, Ishaque A, Chenji S, Mah D, Chen Z, Seres P, Beaulieu C, Kalra S. Hum Brain Mapp. 2017 Mar;38(3):1249-1268. doi: 10.1002/hbm.23452. PMID: 27796080
White matter hyperintensity volume predicts persistent cognitive impairment in transient ischemic attack and minor stroke. Sivakumar L, Riaz P, Kate M, Jeerakathil T, Beaulieu C, Buck B, Camicioli R, Butcher K. Int J Stroke. 2016 Oct 26. pii: 1747493016676612. [Epub ahead of print] PMID: 27784823
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG. Am J Med Genet A. 2017 Mar;173(3):596-600. doi: 10.1002/ajmg.a.37983. PMID: 27671926
Diffusion tensor imaging of white matter and correlates to eye movement control and psychometric testing in children with prenatal alcohol exposure. Paolozza A, Treit S, Beaulieu C, Reynolds JN. Hum Brain Mapp. 2017 Jan;38(1):444-456. doi: 10.1002/hbm.23371. PMID: 27622670
Progressive contralateral hippocampal atrophy following surgery for medically refractory temporal lobe epilepsy. Elliott CA, Gross DW, Wheatley BM, Beaulieu C, Sankar T. Epilepsy Res. 2016 Sep;125:62-71. doi: 10.1016/j.eplepsyres.2016.06.007. PMID: 27394376
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM; Care4Rare Canada Consortium.. Clin Genet. 2017 Jan;91(1):92-99. doi: 10.1111/cge.12793. PMID: 27102954
Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure. Treit S, Zhou D, Chudley AE, Andrew G, Rasmussen C, Nikkel SM, Samdup D, Hanlon-Dearman A, Loock C, Beaulieu C. PLoS One. 2016 Feb 29;11(2):e0150370. doi: 10.1371/journal.pone.0150370. PMID: 26928125
Amygdala subnuclei response and connectivity during emotional processing. Hrybouski S, Aghamohammadi-Sereshki A, Madan CR, Shafer AT, Baron CA, Seres P, Beaulieu C, Olsen F, Malykhin NV. Neuroimage. 2016 Jun;133:98-110. doi: 10.1016/j.neuroimage.2016.02.056. PMID: 26926791
Maturation Along White Matter Tracts in Human Brain Using a Diffusion Tensor Surface Model Tract-Specific Analysis. Chen Z, Zhang H, Yushkevich PA, Liu M, Beaulieu C. Front Neuroanat. 2016 Feb 16;10:9. doi: 10.3389/fnana.2016.00009. PMID: 26909027
Fatigue in Multiple Sclerosis: Assessing Pontine Involvement Using Proton MR Spectroscopic Imaging. Zaini WH, Giuliani F, Beaulieu C, Kalra S, Hanstock C. PLoS One. 2016 Feb 19;11(2):e0149622. doi: 10.1371/journal.pone.0149622. PMID: 26895076
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. PMID: 26637979
Aberrant topological patterns of brain structural network in temporal lobe epilepsy. Yasuda CL, Chen Z, Beltramini GC, Coan AC, Morita ME, Kubota B, Bergo F, Beaulieu C, Cendes F, Gross DW. Epilepsia. 2015 Dec;56(12):1992-2002. doi: 10.1111/epi.13225. PMID: 26530395
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ; Care4Rare Canada Consortium.. Am J Med Genet A. 2016 Jan;170A(1):11-8. doi: 10.1002/ajmg.a.37389. PMID: 26373900
Residual quadrupole interaction in brain and its effect on quantitative sodium imaging. Stobbe RW, Beaulieu C. NMR Biomed. 2016 Feb;29(2):119-28. doi: 10.1002/nbm.3376. PMID: 26370662
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium.; Care4Rare Canada Consortium., Majewski J, Boycott KM. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Review. PMID: 26283276
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TM, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJ, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJ, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium.; University of Washington Center for Mendelian Genomics., Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Nat Cell Biol. 2015 Aug;17(8):1074-87. doi: 10.1038/ncb3201. PMID: 26167768
Reduction of Diffusion-Weighted Imaging Contrast of Acute Ischemic Stroke at Short Diffusion Times. Baron CA, Kate M, Gioia L, Butcher K, Emery D, Budde M, Beaulieu C. Stroke. 2015 Aug;46(8):2136-41. doi: 10.1161/STROKEAHA.115.008815. PMID: 26152297
Dynamic Evolution of Diffusion-Weighted Imaging Lesions in Patients With Minor Ischemic Stroke. Kate MP, Riaz P, Gioia L, Sivakumar L, Jeerakathil T, Buck B, Beaulieu C, Butcher K. Stroke. 2015 Aug;46(8):2318-21. doi: 10.1161/STROKEAHA.115.009775. PMID: 26081842
Motion robust GRAPPA for echo-planar imaging. Baron CA, Beaulieu C. Magn Reson Med. 2016 Mar;75(3):1166-74. doi: 10.1002/mrm.25705. PMID: 25920076
Accelerated longitudinal cortical thinning in adolescence. Zhou D, Lebel C, Treit S, Evans A, Beaulieu C. Neuroimage. 2015 Jan 1;104:138-45. doi: 10.1016/j.neuroimage.2014.10.005. PMID: 25312772
Diffusion abnormalities of the corpus callosum in patients with malformations of cortical development and epilepsy. Andrade CS, Leite CC, Otaduy MC, Lyra KP, Valente KD, Yasuda CL, Beltramini GC, Beaulieu C, Gross DW. Epilepsy Res. 2014 Nov;108(9):1533-42. doi: 10.1016/j.eplepsyres.2014.08.023. PMID: 25260933
Correlations between Limbic White Matter and Cognitive Function in Temporal-Lobe Epilepsy, Preliminary Findings. Alexander RP, Concha L, Snyder TJ, Beaulieu C, Gross DW. Front Aging Neurosci. 2014 Jun 30;6:142. doi: 10.3389/fnagi.2014.00142. PMID: 25071551
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium.; Care4Rare Canada.. Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. PMID: 25046240
Response inhibition deficits in children with Fetal Alcohol Spectrum Disorder: relationship between diffusion tensor imaging of the corpus callosum and eye movement control. Paolozza A, Treit S, Beaulieu C, Reynolds JN. Neuroimage Clin. 2014 Jun 4;5:53-61. doi: 10.1016/j.nicl.2014.05.019. PMID: 24967159
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