Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

96 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
COVID-19 vaccine reactogenicity among participants enrolled in the GENCOV study.
Morgan G, Casalino S, Chowdhary S, Frangione E, Fung CYJ, Lapadula E, Arnoldo S, Bearss E, Binnie A, Borgundvaag B, Briollais L, Dagher M, Devine L, Friedman SM, Khan Z, Mighton C, Nirmalanathan K, Richardson D, Stern S, Taher A, Wolday D, Lerner-Ellis J, Taher J. Morgan G, et al. Among authors: lerner ellis j. Vaccine. 2024 Apr 19;42(11):2733-2739. doi: 10.1016/j.vaccine.2024.03.030. Epub 2024 Mar 23. Vaccine. 2024. PMID: 38521677
Canadian COVID-19 host genetics cohort replicates known severity associations.
Garg E, Arguello-Pascualli P, Vishnyakova O, Halevy AR, Yoo S, Brooks JD, Bull SB, Gagnon F, Greenwood CMT, Hung RJ, Lawless JF, Lerner-Ellis J, Dennis JK, Abraham RJS, Garant JM, Thiruvahindrapuram B, Jones SJM; CGEn HostSeq Initiative; Strug LJ, Paterson AD, Sun L, Elliott LT. Garg E, et al. Among authors: lerner ellis j. PLoS Genet. 2024 Mar 22;20(3):e1011192. doi: 10.1371/journal.pgen.1011192. eCollection 2024 Mar. PLoS Genet. 2024. PMID: 38517939 Free PMC article.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: lerner ellis jp. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
Validation of low-pass genome sequencing for prenatal diagnosis.
Mighton C, Noor A, Watkins N, Di Gioacchino V, Lerner-Ellis J, Wong A, Mukharryamova E, Anggala N, Chitayat D, Greenfeld E. Mighton C, et al. Among authors: lerner ellis j. Prenat Diagn. 2024 Apr;44(4):443-453. doi: 10.1002/pd.6525. Epub 2024 Jan 27. Prenat Diagn. 2024. PMID: 38279846
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
The Deceased, Public Health, and Research: Proposing Legal Reforms.
Baltzan I, Knoppers BM, Nemetz ETA, Lerner-Ellis J, Bernier A, Devon K. Baltzan I, et al. Among authors: lerner ellis j. Biopreserv Biobank. 2023 Nov 9. doi: 10.1089/bio.2023.0026. Online ahead of print. Biopreserv Biobank. 2023. PMID: 37943606
96 results