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186 results

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Page 1
Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms.
Hong YS, Pasca S, Shi W, Puiu D, Lake NJ, Lek M, Ru M, Grove ML, Prizment A, Joshu CE, Platz EA, Guallar E, Arking DE, Gondek LP. Hong YS, et al. Among authors: lek m. Nat Commun. 2024 Nov 22;15(1):10133. doi: 10.1038/s41467-024-54443-3. Nat Commun. 2024. PMID: 39578475 Free PMC article.
Quantifying constraint in the human mitochondrial genome.
Lake NJ, Ma K, Liu W, Battle SL, Laricchia KM, Tiao G, Puiu D, Ng KK, Cohen J, Compton AG, Cowie S, Christodoulou J, Thorburn DR, Zhao H, Arking DE, Sunyaev SR, Lek M. Lake NJ, et al. Among authors: lek m. Nature. 2024 Nov;635(8038):390-397. doi: 10.1038/s41586-024-08048-x. Epub 2024 Oct 16. Nature. 2024. PMID: 39415008
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Jurgens JA, England EM, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC. Lee AS, et al. Among authors: lek m. Nat Commun. 2024 Sep 27;15(1):8268. doi: 10.1038/s41467-024-52463-7. Nat Commun. 2024. PMID: 39333082 Free PMC article.
Saturation mutagenesis-reinforced functional assays for disease-related genes.
Ma K, Huang S, Ng KK, Lake NJ, Joseph S, Xu J, Lek A, Ge L, Woodman KG, Koczwara KE, Cohen J, Ho V, O'Connor CL, Brindley MA, Campbell KP, Lek M. Ma K, et al. Among authors: lek m. Cell. 2024 Nov 14;187(23):6707-6724.e22. doi: 10.1016/j.cell.2024.08.047. Epub 2024 Sep 25. Cell. 2024. PMID: 39326416
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: lek m. Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127. Epub 2024 Aug 30. Ann Clin Transl Neurol. 2024. PMID: 39215466 Free PMC article.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Among authors: lek m. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
Translating multiscale research in rare disease.
Hooper KM, Justice MJ, Lek M, Liu KJ, Rauen KA. Hooper KM, et al. Among authors: lek m. Dis Model Mech. 2024 Jun 1;17(6):dmm052009. doi: 10.1242/dmm.052009. Epub 2024 Jul 10. Dis Model Mech. 2024. PMID: 38982973 Free PMC article.
High-throughput assays to assess variant effects on disease.
Ma K, Gauthier LO, Cheung F, Huang S, Lek M. Ma K, et al. Among authors: lek m. Dis Model Mech. 2024 Jun 1;17(6):dmm050573. doi: 10.1242/dmm.050573. Epub 2024 Jun 28. Dis Model Mech. 2024. PMID: 38940340 Free PMC article.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: lek m. bioRxiv [Preprint]. 2024 May 6:2024.05.03.592369. doi: 10.1101/2024.05.03.592369. bioRxiv. 2024. Update in: Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127 PMID: 38765987 Free PMC article. Updated. Preprint.
186 results