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Page 1
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Nguyen Galván NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Ma M, et al. Among authors: chung wk. Genet Med. 2024 Jul;26(7):101125. doi: 10.1016/j.gim.2024.101125. Epub 2024 Mar 21. Genet Med. 2024. PMID: 38522068 Free PMC article.
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.
Bosman W, Butler KM, Chang CA, Ganapathi M, Guzman E, Latta F, Chung WK, Claverie-Martin F, Davis JM, Hoenderop JGJ, de Baaij JHF. Bosman W, et al. Among authors: chung wk. Clin Kidney J. 2024 Jul 5;17(8):sfae211. doi: 10.1093/ckj/sfae211. eCollection 2024 Aug. Clin Kidney J. 2024. PMID: 39099563 Free PMC article.
Context-dependent roles of mitochondrial LONP1 in orchestrating the balance between airway progenitor versus progeny cells.
Xu L, Tan C, Barr J, Talaba N, Verheyden J, Chin JS, Gaboyan S, Kasaraneni N, Elgamal RM, Gaulton KJ, Lin G, Afshar K, Golts E, Meier A, Alexander LEC, Borok Z, Shen Y, Chung WK, McCulley DJ, Sun X. Xu L, et al. Among authors: chung wk. Cell Stem Cell. 2024 Oct 3;31(10):1465-1483.e6. doi: 10.1016/j.stem.2024.08.001. Epub 2024 Aug 23. Cell Stem Cell. 2024. PMID: 39181129
Basic Science and Pathogenesis.
Caro DD, Rodriguez S, Wetmore JB, Godinez JD, Camarillo IA, Goldman J, Uhlmann WR, McCain S, Caban M, Leu CS, Abraido-Lanza AF, Lantigua RA, Chung WK, Roberts JS, Siegel K, Ottman R. Caro DD, et al. Among authors: chung wk. Alzheimers Dement. 2024 Dec;20 Suppl 1:e086185. doi: 10.1002/alz.086185. Alzheimers Dement. 2024. PMID: 39750995
Designing and implementing the IDEAL Study: A randomized clinical trial of APOE genotype disclosure for late-onset Alzheimer's disease in an urban Latino population.
Wetmore JB, Rodriguez S, Diaz Caro D, Cabán M, Uhlmann W, Goldman J, Leu CS, Godinez JD, Camarillo IA, Ferber R, Blasco D, Lantigua RA, Abraído-Lanza A, Chung WK, Roberts JS, Siegel K, Ottman R. Wetmore JB, et al. Among authors: chung wk. Alzheimers Dement (N Y). 2024 Dec 2;10(4):e70016. doi: 10.1002/trc2.70016. eCollection 2024 Oct-Dec. Alzheimers Dement (N Y). 2024. PMID: 39748836 Free PMC article.
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.
Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla MK, Abubakar M, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Behrens S, Bermisheva M, de Gonzalez AB, Białkowska K, Boddicker N, Bodelon C, Bogdanova NV, Bojesen SE, Brantley KD, Brauch H, Brenner H, Camp NJ, Canzian F, Castelao JE, Cessna MH, Chang-Claude J, Chenevix-Trench G, Chung WK; NBCS Collaborators; Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dörk T, Dunning AM, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Flyger H, Fritschi L, Gago-Dominguez M, Gentry-Maharaj A, González-Neira A, Guénel P, Hahnen E, Haiman CA, Hamann U, Hartikainen JM, Ho V, Hodge J, Hollestelle A, Honisch E, Hooning MJ, Hoppe R, Hopper JL, Howell S, Howell A; ABCTB Investigators; kConFab Investigators; Jakovchevska S, Jakubowska A, Jernström H, Johnson N, Kaaks R, Khusnutdinova EK, Kitahara CM, Koutros S, Kristensen VN, Lacey JV, Lambrechts D, Lejbkowicz F, Lindblom A, Lush M, Mannermaa A, Mavroudis D, Menon U, Murphy RA, Nevanlinna H, Obi N, Offit K, Park-Simon TW, Patel AV, Peng C, Peterlongo P, Pita G, Plaseska-Karanfilska D,… See abstract for full author list ➔ Yiangou K, et al. Among authors: chung wk. Breast Cancer Res. 2024 Dec 29;26(1):189. doi: 10.1186/s13058-024-01947-x. Breast Cancer Res. 2024. PMID: 39734228 Free PMC article.
1,077 results