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Year Number of Results
2011 1
2012 2
2013 2
2014 1
2015 1
2017 2
2019 3
2020 5
2021 2
2022 5
2023 2
2024 1

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25 results

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Page 1
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.
Bhérer C, Eveleigh R, Trajanoska K, St-Cyr J, Paccard A, Nadukkalam Ravindran P, Caron E, Bader Asbah N, McClelland P, Wei C, Baumgartner I, Schindewolf M, Döring Y, Perley D, Lefebvre F, Lepage P, Bourgey M, Bourque G, Ragoussis J, Mooser V, Taliun D. Bhérer C, et al. Among authors: eveleigh r. NPJ Genom Med. 2024 Feb 7;9(1):8. doi: 10.1038/s41525-024-00390-3. NPJ Genom Med. 2024. PMID: 38326393 Free PMC article.
Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.
Gayden T, Crevier-Sorbo G, Jawhar W, Saint-Martin C, Eveleigh R, Gilardino MS, Anastasio N, Trakadis Y, Bassenden AV, Berghuis AM, Jabado N, Dudley RWR. Gayden T, et al. Among authors: eveleigh r. J Neurosurg Pediatr. 2023 Mar 10;31(6):584-592. doi: 10.3171/2023.1.PEDS22287. Print 2023 Jun 1. J Neurosurg Pediatr. 2023. PMID: 36905673
Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.
Vasudev NS, Scelo G, Glennon KI, Wilson M, Letourneau L, Eveleigh R, Nourbehesht N, Arseneault M, Paccard A, Egevad L, Viksna J, Celms E, Jackson SM, Abedi-Ardekani B, Warren AY, Selby PJ, Trainor S, Kimuli M, Cartledge J, Soomro N, Adeyoju A, Patel PM, Wozniak MB, Holcatova I, Brisuda A, Janout V, Chanudet E, Zaridze D, Moukeria A, Shangina O, Foretova L, Navratilova M, Mates D, Jinga V, Bogdanovic L, Kovacevic B, Cambon-Thomsen A, Bourque G, Brazma A, Tost J, Brennan P, Lathrop M, Riazalhosseini Y, Banks RE. Vasudev NS, et al. Among authors: eveleigh r. Clin Cancer Res. 2023 Apr 3;29(7):1220-1231. doi: 10.1158/1078-0432.CCR-22-1936. Clin Cancer Res. 2023. PMID: 36815791 Free PMC article.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy); … See abstract for full author list ➔ Butler-Laporte G, et al. Among authors: eveleigh rj. PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36327219 Free PMC article.
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Olson ND, Wagner J, McDaniel J, Stephens SH, Westreich ST, Prasanna AG, Johanson E, Boja E, Maier EJ, Serang O, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Kyriakidis K, Malousi A, Shafin K, Pesout T, Jain M, Paten B, Chang PC, Kolesnikov A, Nattestad M, Baid G, Goel S, Yang H, Carroll A, Eveleigh R, Bourgey M, Bourque G, Li G, Ma C, Tang L, Du Y, Zhang S, Morata J, Tonda R, Parra G, Trotta JR, Brueffer C, Demirkaya-Budak S, Kabakci-Zorlu D, Turgut D, Kalay Ö, Budak G, Narcı K, Arslan E, Brown R, Johnson IJ, Dolgoborodov A, Semenyuk V, Jain A, Tetikol HS, Jain V, Ruehle M, Lajoie B, Roddey C, Catreux S, Mehio R, Ahsan MU, Liu Q, Wang K, Sahraeian SME, Fang LT, Mohiyuddin M, Hung C, Jain C, Feng H, Li Z, Chen L, Sedlazeck FJ, Zook JM. Olson ND, et al. Among authors: eveleigh r. Cell Genom. 2022 May 11;2(5):100129. doi: 10.1016/j.xgen.2022.100129. Epub 2022 Apr 27. Cell Genom. 2022. PMID: 35720974 Free PMC article.
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.
Povysil G, Butler-Laporte G, Shang N, Wang C, Khan A, Alaamery M, Nakanishi T, Zhou S, Forgetta V, Eveleigh RJ, Bourgey M, Aziz N, Jones SJ, Knoppers B, Scherer SW, Strug LJ, Lepage P, Ragoussis J, Bourque G, Alghamdi J, Aljawini N, Albes N, Al-Afghani HM, Alghamdi B, Almutairi MS, Mahmoud ES, Abu-Safieh L, El Bardisy H, Harthi FSA, Alshareef A, Suliman BA, Alqahtani SA, Almalik A, Alrashed MM, Massadeh S, Mooser V, Lathrop M, Fawzy M, Arabi YM, Mbarek H, Saad C, Al-Muftah W, Jung J, Mangul S, Badji R, Thani AA, Ismail SI, Gharavi AG, Abedalthagafi MS, Richards JB, Goldstein DB, Kiryluk K. Povysil G, et al. Among authors: eveleigh rj. J Clin Invest. 2021 Jul 15;131(14):e147834. doi: 10.1172/JCI147834. J Clin Invest. 2021. PMID: 34043590 Free PMC article.
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
Ragamin A, Gomes CC, Bindels-de Heus K, Sandoval R, Bassenden AV, Dib L, Kok F, Alves J, Mathijssen I, Medici-Van den Herik E, Eveleigh R, Gayden T, Pullens B, Berghuis A, van Slegtenhorst M, Wilke M, Jabado N, Mancini GMS, Gomez RS. Ragamin A, et al. Among authors: eveleigh r. J Med Genet. 2022 Mar;59(3):305-312. doi: 10.1136/jmedgenet-2020-107427. Epub 2021 Mar 8. J Med Genet. 2022. PMID: 33685999 Free PMC article.
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.
Povysil G, Butler-Laporte G, Shang N, Weng C, Khan A, Alaamery M, Nakanishi T, Zhou S, Forgetta V, Eveleigh R, Bourgey M, Aziz N, Jones S, Knoppers B, Scherer S, Strug L, Lepage P, Ragoussis J, Bourque G, Alghamdi J, Aljawini N, Albes N, Al-Afghani HM, Alghamdi B, Almutair M, Mahmoud ES, Safie LA, Bardisy HE, Al Harthi FS, Alshareef A, Suliman BA, Alqahtani S, AlMalik A, Alrashed MM, Massadeh S, Mooser V, Lathrop M, Arabi Y, Mbarek H, Saad C, Al-Muftah W, Badji R, Al Thani A, Ismail SI, Gharavi AG, Abedalthagafi MS, Richards JB, Goldstein DB, Kiryluk K. Povysil G, et al. Among authors: eveleigh r. medRxiv [Preprint]. 2020 Dec 21:2020.12.18.20248226. doi: 10.1101/2020.12.18.20248226. medRxiv. 2020. PMID: 33398295 Free PMC article. Updated. Preprint.
25 results