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Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
A functional genomic framework to elucidate novel causal metabolic dysfunction-associated fatty liver disease genes.
Saliba-Gustafsson P, Justesen JM, Ranta A, Sharma D, Bielczyk-Maczynska E, Li J, Najmi LA, Apodaka M, Aspichueta P, Björck HM, Eriksson P, Schurr TM, Franco-Cereceda A, Gloudemans M, Mujica E, den Hoed M, Assimes TL, Quertermous T, Carcamo-Orive I, Park CY, Knowles JW. Saliba-Gustafsson P, et al. Among authors: najmi la. Hepatology. 2025 Jul 1;82(1):165-183. doi: 10.1097/HEP.0000000000001066. Epub 2024 Aug 27. Hepatology. 2025. PMID: 39190705 Free PMC article.
A functional genomic framework to elucidate novel causal non-alcoholic fatty liver disease genes.
Saliba-Gustafsson P, Justesen JM, Ranta A, Sharma D, Bielczyk-Maczynska E, Li J, Najmi LA, Apodaka M, Aspichueta P, Björck HM, Eriksson P, Franco-Cereceda A, Gloudemans M, Mujica E, den Hoed M, Assimes TL, Quertermous T, Carcamo-Orive I, Park CY, Knowles JW. Saliba-Gustafsson P, et al. Among authors: najmi la. medRxiv [Preprint]. 2024 Feb 4:2024.02.03.24302258. doi: 10.1101/2024.02.03.24302258. medRxiv. 2024. Update in: Hepatology. 2025 Jul 1;82(1):165-183. doi: 10.1097/HEP.0000000000001066. PMID: 38352379 Free PMC article. Updated. Preprint.
Archival bone marrow samples: suitable for multiple biomarker analysis.
Lund B, Najmi LA, Wesolowska-Andersen A, Landsem VM, Rasmussen KK, Borst L, Gupta R, Schmiegelow K, Klungland H. Lund B, et al. Among authors: najmi la. Appl Immunohistochem Mol Morphol. 2015 Jan;23(1):71-7. doi: 10.1097/PDM.0000000000000032. Appl Immunohistochem Mol Morphol. 2015. PMID: 25621358
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL. Althari S, et al. Among authors: najmi la. Am J Hum Genet. 2020 Oct 1;107(4):670-682. doi: 10.1016/j.ajhg.2020.08.016. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910913 Free PMC article.
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
Rozenkova K, Malikova J, Nessa A, Dusatkova L, Bjørkhaug L, Obermannova B, Dusatkova P, Kytnarova J, Aukrust I, Najmi LA, Rypackova B, Sumnik Z, Lebl J, Njølstad PR, Hussain K, Pruhova S. Rozenkova K, et al. Among authors: najmi la. J Clin Endocrinol Metab. 2015 Dec;100(12):E1540-9. doi: 10.1210/jc.2015-2763. Epub 2015 Oct 2. J Clin Endocrinol Metab. 2015. PMID: 26431509
11 results