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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Senderek J, et al. Among authors: north k. Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282977
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S; Regeneron Genetics Center; Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B; NHLBI Trans-Omics for Precision Medicine Consortium; Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Jakubek YA, et al. Among authors: north ke. Am J Hum Genet. 2025 Jan 6:S0002-9297(24)00456-7. doi: 10.1016/j.ajhg.2024.12.014. Online ahead of print. Am J Hum Genet. 2025. PMID: 39809269 Free article.
Impact of maternal antenatal nutrition and infection treatment interventions on Longitudinal Infant Development and Growth in rural Ethiopia: protocol of the LIDG child follow-up study.
Workneh F, Chin TI, Yibeltal K, Fasil N, North K, Jensen SKG, Kidane WT, Melese M, Tsegaye S, Berhane YY, Roy Paladhi U, Abate BH, Teklehaimanot A, Melka TL, Pihl S, An WW, Van Dyk F, Mullany LC, Folger LV, Cherkerzian S, Troller-Renfree SV, Thomason ME, Andersson M, Inder T, Nelson CA, Grant PE, Christian P, Worku A, Berhane Y, Lee AC. Workneh F, et al. Among authors: north k. BMJ Paediatr Open. 2024 Dec 24;8(1):e002840. doi: 10.1136/bmjpo-2024-002840. BMJ Paediatr Open. 2024. PMID: 39725450 Free PMC article.
Multiancestry Genome-Wide Association Study of Early Childhood Caries.
Shrestha P, Graff M, Gu Y, Wang Y, Avery CL, Ginnis J, Simancas-Pallares MA, Ferreira Zandoná AG, Alotaibi RN, Orlova E, Ahn HS, Nguyen KN, Highland HM, Lin DY, Preisser JS, Slade GD, Marazita ML, North KE, Divaris K. Shrestha P, et al. Among authors: north ke. J Dent Res. 2024 Dec 19:220345241291528. doi: 10.1177/00220345241291528. Online ahead of print. J Dent Res. 2024. PMID: 39698793 Free article.
A prognostic molecular signature of hepatic steatosis is spatially heterogeneous and dynamic in human liver.
Perry AS, Hadad N, Chatterjee E, Jimenez-Ramos M, Farber-Eger E, Roshani R, Stolze LK, Betti MJ, Zhao S, Huang S, Martens L, Kendall TJ, Thone T, Amancherla K, Bailin S, Gabriel CL, Koethe J, Carr JJ, Terry JG, Vaitinadin NS, Freedman JE, Tanriverdi K, Alsop E, Van Keuren-Jensen K, Sauld JFK, Mahajan G, Khan SS, Colangelo L, Nayor M, Fisher-Hoch S, McCormick JB, North KE, Below JE, Wells QS, Abel ED, Kalhan R, Scott C, Guilliams M, Gamazon ER, Fallowfield JA, Banovich NE, Das S, Shah R. Perry AS, et al. Among authors: north ke. Cell Rep Med. 2024 Dec 17;5(12):101871. doi: 10.1016/j.xcrm.2024.101871. Epub 2024 Dec 9. Cell Rep Med. 2024. PMID: 39657669 Free PMC article.
1,119 results