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Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium; Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Schwartzentruber J, et al. Among authors: thiffault i. Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18. Hum Mutat. 2014. PMID: 25130867
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepańska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz Ö, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnyś P, Grote P, Odermatt B, Reutter HM, Dworschak GC. Kolvenbach CM, et al. Among authors: thiffault i. J Med Genet. 2023 Jun;60(6):587-596. doi: 10.1136/jmg-2022-108738. Epub 2022 Nov 15. J Med Genet. 2023. PMID: 36379543 Free PMC article.
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Farrow E, Jay A, Means J, Younger S, Biswell R, Koseva B, Thiffault I, Pastinen T, Pappas K, Toriello H. Farrow E, et al. Among authors: thiffault i. Am J Med Genet A. 2023 Dec;191(12):2908-2912. doi: 10.1002/ajmg.a.63365. Epub 2023 Aug 7. Am J Med Genet A. 2023. PMID: 37548286 No abstract available.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: thiffault i. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. Among authors: thiffault i. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: thiffault i. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744 Free PMC article.
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E. Alstrup M, et al. Among authors: thiffault i. Genet Med. 2024 Nov;26(11):101219. doi: 10.1016/j.gim.2024.101219. Epub 2024 Jul 18. Genet Med. 2024. PMID: 39033379
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Zion TN, et al. Among authors: thiffault i. Genet Med. 2023 May;25(5):100020. doi: 10.1016/j.gim.2023.100020. Epub 2023 Jan 28. Genet Med. 2023. PMID: 36718845 Free PMC article.
145 results