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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,078 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
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 Free article.
Correction: Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.
Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF. Mavaddat N, et al. Among authors: chung wk. Cancer Epidemiol Biomarkers Prev. 2025 Jan 9;34(1):205. doi: 10.1158/1055-9965.EPI-24-1661. Cancer Epidemiol Biomarkers Prev. 2025. PMID: 39780621 Free PMC article. No abstract available.
PPP2R5D-Related Neurodevelopmental Disorder.
Mirzaa G, Foss K, Sudnawa K, Chung WK. Mirzaa G, et al. Among authors: chung wk. 2019 Jan 24 [updated 2025 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2019 Jan 24 [updated 2025 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 30676711 Free Books & Documents. Review.
1,078 results