TDP-43 stabilizes G3BP1 mRNA: relevance to amyotrophic lateral sclerosis/frontotemporal dementia

Sidibé H, Khalfallah Y, Xiao S, Gómez NB, Fakim H, Tank EMH, Di Tomasso G, Parker JA, Legault P, Tétreault M, Barmada SJ, Robertson J, Vande Velde C, et al.

Brain. 2021 Dec 16; 144(11): 3461-3476. doi: 10.1093/brain/awab217.

Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?

Fournier S, Dauvilliers Y, Warby SC, Labrecque M, Zadra A, Boucetta S, El Gewely M, Kaddioui H, Lopez R, Montplaisir JY, Bareke E, Tétreault M, Desautels A.

Journal of Sleep Research. 2021 Dec 15; e13537. doi: 10.1111/jsr.13537.

Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome:
a multicentre, retrospective, cohort study

Chasseloup F, Bourdeau I, Tabarin A, Regazzo D, Dumontet C, Ladurelle N, Tosca L, Amazit L, Proust A, Tétreault M, Lacroix A, Bouligand J, Kamenický P, et al.

Lancet Diabetes and Endocrinology. 2021 Dec; 9(12): 813-824. doi: 10.1016/S2213-8587(21)00236-9.

Integrated immunovirological profiling validates plasma SARS-CoV-2 RNA as an early predictor of COVID-19 mortality

Brunet-Ratnasingham E, Anand SP, Gantner P, Dyachenko A, Moquin-Beaudry G, Arbour N, Prat A, Larochelle C, Tétreault M, Chomont N, Finzi A, Kaufmann DE, et al.

Science Advances. 2021 Nov 26; 7(48): eabj5629. doi: 10.1126/sciadv.abj5629

Estimated prevalence of Niemann–Pick type C disease in Quebec

Labrecque M, Touma L, Bhérer C, Duquette A, Tétreault M.

Scientific Reports. 2021 Nov 19; 11(1): 22621. doi: 10.1038/s41598-021-01966-0.

Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec

Touma L, Labrecque M, Tetreault M, Duquette A.

Scientific Reports. 2021 May 14; 11(1): 10344. doi: 10.1038/s41598-021-89630-5. 

A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing

Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J.

Canadian Journal of Neurological Sciences. 2021 Mar; 48(2): 293-296. doi: 10.1017/cjn.2020.141.

Channelopathies are a frequent cause of genetic ataxias associated with cerebellar atrophy

Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Tétreault M, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Boycott KM, Yoon G, et al.

Movement disorders clinical practice. 2020 Sep 29; 7(8): 940-949. doi: 10.1002/mdc3.13086.

Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia

Mahjoub A, Cihlarova Z, Tétreault M, MacNeil L, Sondheimer N, Caldecott KW, Hanzlikova H, Yoon G; Care4Rare Canada Consortium.

Neurology Genetics. 2019 Sep 4; 5(5): e359. doi: 10.1212/NXG.0000000000000359.

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency

Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, Walsh R, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD et al.

American Journal of Medical Genetics A. 2018 May; 176(5): 1115-1127. doi: 10.1002/ajmg.a.38658.

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy:
A new case and review of the literature

Bourque DK, Hartley T, Nikkel SM, Pohl D, Tétreault M, Kernohan KD; Care4Rare Canada Consortium, Dyment DA.

European Journal of Medical Genetics. 2018 Feb; 61(2): 89-93. doi: 10.1016/j.ejmg.2017.10.011.

POLR3A variants in hereditary spastic paraplegia and ataxia

Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G, et al.

Brain. 2018 Jan 1; 141(1): e1. doi: 10.1093/brain/awx290.

TRMT5 mutations are associated with features of complex hereditary spastic paraparesis

Tarnopolsky MA, Brady L, Tetreault M; Care4Rare Canada Consortium.

Neurology. 2017 Nov 21; 89(21): 2210-2211. doi: 10.1212/WNL.0000000000004657.

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

Alcantara D, Elmslie F, Tetreault M, Bareke E, Hartley T; Care4Rare Consortium, Majewski J, Boycott K, Innes AM, Dyment DA, O'Driscoll M.

Human Molecular Genetics. 2017 Oct 1; 26(19): 3713-3721. doi: 10.1093/hmg/ddx256.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Tetreault M, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H, et al.

Brain. 2017 Aug 1; 140(8): 2093-2103. doi: 10.1093/brain/awx138.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

Johnstone DL, Nguyen TT, Murakami Y, Tétreault M, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM et al.

Human Molecular Genetics. 2017 May 1; 26(9): 1706-1715. doi: 10.1093/hmg/ddx077.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

Kernohan KD, Dyment DA, Pupavac M, Tetreault M, Majewski J, Farrow E, Kussman J, Safina N; Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I, et al.

Human Mutation. 2017 May; 38(5): 511-516. doi: 10.1002/humu.23196.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J; Care4Rare Canada Consortium, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA.

Neurogenetics. 2017 Apr; 18(2): 97-103. doi: 10.1007/s10048-016-0506-0

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Hoch NC, Hanzlikova H, Rulten SL, Tétreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Wang ZQ, Wagner JD; Care4Rare Canada Consortium, Yoon G, Caldecott KW et al.

Nature. 2017 Jan 5;541(7635):87-91. doi: 10.1038/nature20790.

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M, et al.

Brain. 2017 Jan;140(1):37-48. doi: 10.1093/brain/aww257.

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection

Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium, McFarland R, Vanderver A, et al.

Pediatric Neurology. 2017 Jan; 66: 59-62. doi: 10.1016/j.pediatrneurol.2016.09.003.

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Tetreault M; Care4Rare Consortium, Majewski J, Baird S, Boycott KM, Dyment DA, MacKenzie A, Lines MA, et al.

European Journal of Human Genetics. 2016 Jul; 24(7): 1084-8. doi: 10.1038/ejhg.2015.243.

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Bouchard JP, Rioux MF, Rouleau GA; Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B, et al.

European Journal of Human Genetics. 2016 Jul; 24(7): 1016-21. doi: 10.1038/ejhg.2015.240.

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care

Hamilton A, Tétreault M, Dyment DA, Zou R, Kernohan K, Geraghty MT; FORGE Canada Consortium; Care4Rare Canada Consortium, Hartley T, Boycott KM.

Molecular Genetics & Genomic Medicine. 2016 May 10; 4(5): 504-12. doi: 10.1002/mgg3.223.

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia

Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ; Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B.

Neurogenetics. 2016 Apr; 17(2): 137-41. doi: 10.1007/s10048-016-0476-2.

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Ejaz R, Qin W, Huang L, Blaser S, Tetreault M, Hartley T, Boycott KM, Carter MT; Care4Rare Canada Consortium.

American Journal of Medical Genetics A. 2016 Apr; 170A(4): 1070-5. doi: 10.1002/ajmg.a.37541.

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA

Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M.

Brain. 2016 Mar; 139(3): e19. doi: 10.1093/brain/awv362.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Stray-Pedersen A, Cobben JM, Prescott TE, Tétreault M; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Ren D, Yoon G, et al.

American Journal of Human Genetics. 2016 Jan 7; 98(1): 202-9. doi: 10.1016/j.ajhg.2015.11.004.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Boycott KM, Beaulieu CL, Kernohan KD, Tetreault M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Abou Jamra R, et al.

American Journal of Human Genetics. 2015 Dec 3; 97(6): 886-93. doi: 10.1016/j.ajhg.2015.11.002.

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

Kernohan KD, Tétreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J; Care4Rare Canada Consortium, Holcik M, Majewski J, Richer J, Boycott KM.

Human Molecular Genetics. 2015 Nov 15; 24(22): 6293-300. doi: 10.1093/hmg/ddv337.

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Tetreault M, Xi JQ, Al-Thamer I; Care4Rare Canada Consortium, Maas RL, Boycott K, Alkuraya FS, et al.

American Journal of Human Genetics. 2015 Oct 1; 97(4): 608-15. doi: 10.1016/j.ajhg.2015.08.007.

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE; Care4Rare Canada Consortium, Dyment DA, McMillan HJ.

Neuromuscular Disorders. 2015 Oct; 25(10): 794-9. doi: 10.1016/j.nmd.2015.07.017.

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M; Care4Rare Canada Consortium, Majewski J, Boycott KM, Screaton RA, Nicholson G.

Human Molecular Genetics. 2015 Sep 15; 24(18): 5109-14. doi: 10.1093/hmg/ddv229.

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ; Care4Rare Consortium, Michaud JL, Majewski J.

Human Genetics. 2015 Sep; 134(9): 981-91. doi: 10.1007/s00439-015-1577-y.

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing

Imai A, Nakaya A, Fahiminiya S, Tétreault M, Majewski J, Sakata Y, Takashima S, Lathrop M, Ott J.

Scientific Reports. 2015 Jul 6; 5: 12028. doi: 10.1038/srep12028.

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities

Tetreault M, Bareke E, Nadaf J, Alirezaie N, Majewski J.

Expert Review of Molecular Diagnostics. 2015 Jun; 15(6): 749-60. doi: 10.1586/14737159.2015.1039516. 

Recessive osteogenesis imperfecta caused by missense mutations in SPARC

Mendoza-Londono R, Fahiminiya S, Majewski J; Care4Rare Canada Consortium, Tétreault M, Ouellet J, Al-Jallad H, Moffatt P, Boudko S, Bächinger HP, Rauch F, et al.

American Journal of Human Genetics. 2015 Jun 4; 96(6): 979-85. doi: 10.1016/j.ajhg.2015.04.021.

Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation

Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B.

Brain. 2015 Jun; 138(6): 1477-83. doi: 10.1093/brain/awv074

WES identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia

Xi Y, Honeywell C, Zhang D, Tetreault M, Hartley T, Marton J, Vidal SM, Majewski J, Aravind L; Care4Rare Canada Consortium, Gollob M, Boycott KM, Gow RM, et al.

International Journal of Cardiology. 2015 Apr 15; 185: 114-6. doi: 10.1016/j.ijcard.2015.03.130.

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy

Aldinger KA, Mosca SJ, Tétreault M,, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada, Innes AM, Doherty D, et al.

American Journal of Human Genetics. 2014 Aug 7; 95(2): 227-34. doi: 10.1016/j.ajhg.2014.07.007.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Daoud H, Tétreault M, Gibson W, Guerrero K, Cohen A, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G, et al.

Journal of Medical Genetics. 2013 Mar; 50(3): 194-7. doi: 10.1136/jmedgenet-2012-101357.

TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1

Tétreault M, Putorti ML, Thiffault I, Sylvain M, Venderver A, Schiffmann R, Brais B, Bernard G.

Canadian Journal of Neurological Sciences. 2012 Jan; 39(1): 122-3. doi: 10.1017/s0317167100022174.

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia in humans

Bayat V, Thiffault I, Jaiswal M, Tétreault M, Donti T, Sasarman F, Bernard G, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ, et al.

PLoS Biology. 2012; 10(3): e1001288. doi: 10.1371/journal.pbio.1001288.

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G.

American Journal of Human Genetics. 2011 Nov 11; 89(5): 652-5. doi: 10.1016/j.ajhg.2011.10.006.

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B, et al.

American Journal of Human Genetics. 2011 Sep 9; 89(3): 415-23. doi: 10.1016/j.ajhg.2011.07.014.

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31

Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard JP, Vanasse M, Vanderver A, Sébire G, Brais B.

Neurogenetics. 2010 Oct; 11(4): 457-64. doi: 10.1007/s10048-010-0251-8.

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 are more sensitive to thermal stimuli

Loggia ML, Bushnell MC, Tétreault M, Thiffault I, Bhérer C, Mohammed NK, Kuchinad AA, Laferrière A, Dicaire MJ, Loisel L, Mogil JS, Brais B.

Journal of Neuroscience. 2009 Feb 18; 29(7): 2162-6. doi: 10.1523/JNEUROSCI.4633-08.2009.

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

Gosselin I, Thiffault I, Tétreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B.

Neuromuscular Disorders. 2008 Jun; 18(6): 483-92. doi: 10.1016/j.nmd.2008.04.001.