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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: strug lj. J Clin Invest. 2021 Jul 15;131(14):e147834. doi: 10.1172/JCI147834. J Clin Invest. 2021. PMID: 34043590 Free PMC article.
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications.
Rubboli G, Beier CP, Selmer KK, Syvertsen M, Shakeshaft A, Collingwood A, Hall A, Andrade DM, Fong CY, Gesche J, Greenberg DA, Hamandi K, Lim KS, Ng CC, Orsini A; BIOJUME Consortium; Striano P, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK. Rubboli G, et al. Among authors: strug lj. Brain Commun. 2023 Jun 9;5(3):fcad182. doi: 10.1093/braincomms/fcad182. eCollection 2023. Brain Commun. 2023. PMID: 37361715 Free PMC article. Review.
Impact of DNA source on genetic variant detection from human whole-genome sequencing data.
Trost B, Walker S, Haider SA, Sung WWL, Pereira S, Phillips CL, Higginbotham EJ, Strug LJ, Nguyen C, Raajkumar A, Szego MJ, Marshall CR, Scherer SW. Trost B, et al. Among authors: strug lj. J Med Genet. 2019 Dec;56(12):809-817. doi: 10.1136/jmedgenet-2019-106281. Epub 2019 Sep 12. J Med Genet. 2019. PMID: 31515274 Free PMC article.
A Distributed Whole Genome Sequencing Benchmark Study.
Corbett RD, Eveleigh R, Whitney J, Barai N, Bourgey M, Chuah E, Johnson J, Moore RA, Moradin N, Mungall KL, Pereira S, Reuter MS, Thiruvahindrapuram B, Wintle RF, Ragoussis J, Strug LJ, Herbrick JA, Aziz N, Jones SJM, Lathrop M, Scherer SW, Staffa A, Mungall AJ. Corbett RD, et al. Among authors: strug lj. Front Genet. 2020 Dec 1;11:612515. doi: 10.3389/fgene.2020.612515. eCollection 2020. Front Genet. 2020. PMID: 33335541 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. 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.
HostSeq: a Canadian whole genome sequencing and clinical data resource.
Yoo S, Garg E, Elliott LT, Hung RJ, Halevy AR, Brooks JD, Bull SB, Gagnon F, Greenwood C, Lawless JF, Paterson AD, Sun L, Zawati MH, Lerner-Ellis J, Abraham R, Birol I, Bourque G, Garant JM, Gosselin C, Li J, Whitney J, Thiruvahindrapuram B, Herbrick JA, Lorenti M, Reuter MS, Adeoye OO, Liu S, Allen U, Bernier FP, Biggs CM, Cheung AM, Cowan J, Herridge M, Maslove DM, Modi BP, Mooser V, Morris SK, Ostrowski M, Parekh RS, Pfeffer G, Suchowersky O, Taher J, Upton J, Warren RL, Yeung R, Aziz N, Turvey SE, Knoppers BM, Lathrop M, Jones S, Scherer SW, Strug LJ. Yoo S, et al. Among authors: strug lj. BMC Genom Data. 2023 May 2;24(1):26. doi: 10.1186/s12863-023-01128-3. BMC Genom Data. 2023. PMID: 37131148 Free PMC article.
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK. Addis L, et al. Among authors: strug lj. Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30. Hum Mutat. 2015. PMID: 26010655
120 results