| Year |
Citation |
Score |
| 2024 |
Audet S, Triassi V, Gelinas M, Legault-Cadieux N, Ferraro V, Duquette A, Tetreault M. Integration of multi-omics technologies for molecular diagnosis in ataxia patients. Frontiers in Genetics. 14: 1304711. PMID 38239855 DOI: 10.3389/fgene.2023.1304711 |
0.658 |
|
| 2023 |
Nguyen E, Tétreault M, Toffa DH, Cossette P, Samarut É, Nguyen DK. Novel NALCN variant linked to temporal lobe epilepsy. American Journal of Medical Genetics. Part A. PMID 37046053 DOI: 10.1002/ajmg.a.63209 |
0.325 |
|
| 2022 |
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, et al. Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England Journal of Medicine. PMID 36516086 DOI: 10.1056/NEJMoa2207406 |
0.666 |
|
| 2022 |
Mezreani J, Audet S, Martin F, Charbonneau J, Triassi V, Bareke E, Laplante A, Karamchandani J, Massie R, Chalk CH, O'Ferrall E, Tétreault M. Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing. Npj Genomic Medicine. 7: 36. PMID 35672413 DOI: 10.1038/s41525-022-00307-y |
0.374 |
|
| 2021 |
Labrecque M, Touma L, Bhérer C, Duquette A, Tétreault M. Estimated prevalence of Niemann-Pick type C disease in Quebec. Scientific Reports. 11: 22621. PMID 34799641 DOI: 10.1038/s41598-021-01966-0 |
0.611 |
|
| 2021 |
Touma L, Labrecque M, Tetreault M, Duquette A. Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec. Scientific Reports. 11: 10344. PMID 33990640 DOI: 10.1038/s41598-021-89630-5 |
0.642 |
|
| 2020 |
Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Suchowersky O, et al. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement Disorders Clinical Practice. 7: 940-949. PMID 33163565 DOI: 10.1002/Mdc3.13086 |
0.634 |
|
| 2020 |
Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J. A molecular diagnosis of LGMDR1 established by RNA sequencing. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 1-11. PMID 32646536 DOI: 10.1017/Cjn.2020.141 |
0.512 |
|
| 2019 |
Mahjoub A, Cihlarova Z, Tétreault M, MacNeil L, Sondheimer N, Caldecott KW, Hanzlikova H, Yoon G. Homozygous pathogenic variant in associated with nonprogressive cerebellar ataxia. Neurology. Genetics. 5: e359. PMID 31742228 DOI: 10.1212/Nxg.0000000000000359 |
0.373 |
|
| 2018 |
Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, et al. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. American Journal of Medical Genetics. Part A. PMID 29575569 DOI: 10.1002/Ajmg.A.38658 |
0.446 |
|
| 2017 |
Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, et al. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain : a Journal of Neurology. PMID 29228109 DOI: 10.1093/Brain/Awx290 |
0.67 |
|
| 2017 |
Bourque DK, Hartley T, Nikkel SM, Pohl D, Tétreault M, Kernohan KD, Dyment DA. 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. European Journal of Medical Genetics. PMID 29066376 DOI: 10.1016/J.Ejmg.2017.10.011 |
0.531 |
|
| 2017 |
Tarnopolsky MA, Brady L, Tetreault M. TRMT5 mutations are associated with features of complex hereditary spastic paraparesis. Neurology. PMID 29021354 DOI: 10.1212/Wnl.0000000000004657 |
0.332 |
|
| 2017 |
Alcantara D, Elmslie F, Tetreault M, Bareke E, Hartley T, Majewski J, Boycott K, Innes AM, Dyment DA, O'Driscoll M. SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation. Human Molecular Genetics. 26: 3713-3721. PMID 28934384 DOI: 10.1093/Hmg/Ddx256 |
0.459 |
|
| 2017 |
Perrier S, Gauquelin L, Tétreault M, Tran L, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C, Vanderver A, et al. Recessive Mutations in NDUFA2 Cause Mitochondrial Leukoencephalopathy. Clinical Genetics. PMID 28857146 DOI: 10.1111/Cge.13126 |
0.502 |
|
| 2017 |
Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, et al. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: outcomes from a cohort of 50 families. Clinical Genetics. PMID 28708278 DOI: 10.1111/Cge.13101 |
0.473 |
|
| 2017 |
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, ... Tetreault M, et al. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain : a Journal of Neurology. PMID 28633435 DOI: 10.1093/Brain/Awx138 |
0.444 |
|
| 2017 |
Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, et al. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. Human Molecular Genetics. PMID 28334793 DOI: 10.1093/Hmg/Ddx077 |
0.461 |
|
| 2017 |
Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, et al. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Human Mutation. PMID 28185376 DOI: 10.1002/Humu.23196 |
0.512 |
|
| 2017 |
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, et al. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole exome sequencing. Clinical Genetics. PMID 28170084 DOI: 10.1111/Cge.12987 |
0.458 |
|
| 2017 |
La Piana R, Weraarpachai W, Ospina LH, Tetreault M, Majewski J, Bruce Pike G, Decarie JC, Tampieri D, Brais B, Shoubridge EA. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype. Neurogenetics. PMID 28058511 DOI: 10.1007/S10048-016-0506-0 |
0.628 |
|
| 2016 |
Hoch NC, Hanzlikova H, Rulten SL, Tétreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD, et al. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature. PMID 28002403 DOI: 10.1038/Nature20790 |
0.443 |
|
| 2016 |
Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, et al. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection. Pediatric Neurology. PMID 27843092 DOI: 10.1016/J.Pediatrneurol.2016.09.003 |
0.382 |
|
| 2016 |
Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, et al. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain : a Journal of Neurology. PMID 27816943 DOI: 10.1093/Brain/Aww257 |
0.669 |
|
| 2016 |
Hamilton A, Tétreault M, Dyment DA, Zou R, Kernohan K, Geraghty MT, Hartley T, Boycott KM. Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. Molecular Genetics & Genomic Medicine. 4: 504-12. PMID 27652278 DOI: 10.1002/Mgg3.223 |
0.381 |
|
| 2016 |
Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ, Boycott KM, Majewski J, Brais B. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics. PMID 26915362 DOI: 10.1007/S10048-016-0476-2 |
0.639 |
|
| 2016 |
Ejaz R, Qin W, Huang L, Blaser S, Tetreault M, Hartley T, Boycott KM, Carter MT. Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. American Journal of Medical Genetics. Part A. PMID 26754023 DOI: 10.1002/Ajmg.A.37541 |
0.481 |
|
| 2016 |
Stray-Pedersen A, Cobben J, Prescott T, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani S, Muzny D, et al. Biallelic mutations in UNC80 cause severe hypotonia, muscle weakness, growth retardation, and intellectual disability Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.403 |
0.412 |
|
| 2016 |
Brais B, Conte T, Dicaire M, Tetreault M, O'Ferrall E, Ravenscroft G, Laing N, Lamont P, Taivasssalo T, Hepple R, Mathieu J. A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome Neuromuscular Disorders. 26: S95. DOI: 10.1016/J.Nmd.2016.06.038 |
0.631 |
|
| 2015 |
Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, et al. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. American Journal of Human Genetics. PMID 26708751 DOI: 10.1016/J.Ajhg.2015.11.004 |
0.42 |
|
| 2015 |
Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain : a Journal of Neurology. PMID 26657514 DOI: 10.1093/brain/awv362 |
0.625 |
|
| 2015 |
Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, et al. Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8. American Journal of Human Genetics. 97: 886-93. PMID 26637978 DOI: 10.1016/J.Ajhg.2015.11.002 |
0.423 |
|
| 2015 |
Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Boycott KM, Majewski J, Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. European Journal of Human Genetics : Ejhg. PMID 26626314 DOI: 10.1038/Ejhg.2015.240 |
0.73 |
|
| 2015 |
Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Antoun G, Harper ME, Michaud J, Sell E, Chakraborty P, Tetreault M, Majewski J, Baird S, Boycott KM, et al. DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. European Journal of Human Genetics : Ejhg. PMID 26604000 DOI: 10.1038/Ejhg.2015.243 |
0.333 |
|
| 2015 |
Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, et al. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. American Journal of Human Genetics. 97: 608-15. PMID 26365341 DOI: 10.1016/J.Ajhg.2015.08.007 |
0.53 |
|
| 2015 |
Kernohan KD, Tétreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J, Holcik M, Majewski J, Richer J, Boycott KM. Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability. Human Molecular Genetics. 24: 6293-300. PMID 26307080 DOI: 10.1093/Hmg/Ddv337 |
0.435 |
|
| 2015 |
Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE, Dyment DA, McMillan HJ. Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2. Neuromuscular Disorders : Nmd. 25: 794-9. PMID 26298607 DOI: 10.1016/J.Nmd.2015.07.017 |
0.555 |
|
| 2015 |
Imai A, Nakaya A, Fahiminiya S, Tétreault M, Majewski J, Sakata Y, Takashima S, Lathrop M, Ott J. Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing. Scientific Reports. 5: 12028. PMID 26143870 DOI: 10.1038/Srep12028 |
0.415 |
|
| 2015 |
Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ, Michaud JL, Majewski J. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Human Genetics. 134: 981-91. PMID 26099313 DOI: 10.1007/S00439-015-1577-Y |
0.505 |
|
| 2015 |
Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M, Majewski J, Boycott KM, Screaton RA, Nicholson G. Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. Human Molecular Genetics. PMID 26085578 DOI: 10.1093/Hmg/Ddv229 |
0.531 |
|
| 2015 |
Mendoza-Londono R, Fahiminiya S, Majewski J, Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, et al. Recessive osteogenesis imperfecta caused by missense mutations in SPARC. American Journal of Human Genetics. 96: 979-85. PMID 26027498 DOI: 10.1016/J.Ajhg.2015.04.021 |
0.378 |
|
| 2015 |
Tetreault M, Bareke E, Nadaf J, Alirezaie N, Majewski J. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities. Expert Review of Molecular Diagnostics. 15: 749-60. PMID 25959410 DOI: 10.1586/14737159.2015.1039516 |
0.366 |
|
| 2015 |
Tétreault M, Gonzalez M, Dicaire MJ, Allard P, Gehring K, Leblanc D, Leclerc N, Schondorf R, Mathieu J, Zuchner S, Brais B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain : a Journal of Neurology. 138: 1477-83. PMID 25818867 DOI: 10.1093/Brain/Awv074 |
0.654 |
|
| 2015 |
Xi Y, Honeywell C, Zhang D, Schwartzentruber J, Beaulieu CL, Tetreault M, Hartley T, Marton J, Vidal SM, Majewski J, Aravind L, Gollob M, Boycott KM, Gow RM. Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia. International Journal of Cardiology. 185: 114-6. PMID 25791106 DOI: 10.1016/J.Ijcard.2015.03.130 |
0.338 |
|
| 2015 |
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, et al. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clinical Genetics. 88: 34-40. PMID 25046240 DOI: 10.1111/Cge.12464 |
0.489 |
|
| 2014 |
Conte T, Tetreault M, Dicaire M, Provost S, Al-Bustani N, Beland B, Dube M, Bolduc V, Srour M, O’Ferrall E, Bouchard J, Ravenscroft G, Laing N, Lamont P, Mathieu J, et al. G.P.197 Neuromuscular Disorders. 24: 875-876. DOI: 10.1016/J.Nmd.2014.06.273 |
0.599 |
|
| 2013 |
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, et al. Diversity of ARSACS mutations in French-Canadians. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 40: 61-6. PMID 23250129 DOI: 10.1017/S0317167100012968 |
0.748 |
|
| 2012 |
Tetreault M, Choquet K, Orcesi S, Tonduti D, Ballotin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive Mutations in POLR3B Encoding the Second Largest Subunit of Pol III Cause a Rare Hypomyelinating Leukodystrophy (P05.136) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.136 |
0.657 |
|
| 2012 |
Al-Bustani N, Tétreault M, Provost S, Bolduc V, Srour M, O’Ferrall E, Dubé M, Bouchard J, Ravenscroft G, Laing N, Bignell D, Lamont P, Mathieu J, Brais B. G.P.126 “Strongman syndrome”: A new autosomal dominant herculean painful myopathy Neuromuscular Disorders. 22: 904. DOI: 10.1016/J.Nmd.2012.06.332 |
0.623 |
|
| 2010 |
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. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics. 11: 457-64. PMID 20640464 DOI: 10.1007/S10048-010-0251-8 |
0.584 |
|
| 2008 |
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. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscular Disorders : Nmd. 18: 483-92. PMID 18511281 DOI: 10.1016/J.Nmd.2008.04.001 |
0.664 |
|
| 2006 |
Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain : a Journal of Neurology. 129: 2332-40. PMID 16672289 DOI: 10.1093/Brain/Awl110 |
0.671 |
|
| 2006 |
Bolduc V, Jarry J, Rioux MF, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B. P.O.4 A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12 Neuromuscular Disorders. 16: 684. DOI: 10.1016/J.Nmd.2006.05.136 |
0.502 |
|
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