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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1987 2
1988 1
1989 4
1990 3
1992 4
1993 3
1994 6
1995 7
1996 7
1997 5
1998 7
1999 6
2000 9
2001 11
2002 12
2003 7
2004 11
2005 11
2006 8
2007 5
2008 8
2009 12
2010 5
2011 11
2012 11
2013 9
2014 14
2015 16
2016 14
2017 16
2018 22
2019 16
2020 15
2021 8
2022 26
2023 23
2024 19
2025 16
2026 6

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379 results

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Page 1
Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration.
Gu M, Zhao J, Deng M, Lin G, Pan X, Lin W, Ma M, Kim J, Byeon SK, Pandey A, Lange LM, Shaw CA, Kim J, Trinh J, Klein C, Kanca O, Shulman JM, Bellen HJ. Gu M, et al. Among authors: bellen hj. Mol Neurodegener. 2026 Jan 30;21(1):18. doi: 10.1186/s13024-025-00923-z. Mol Neurodegener. 2026. PMID: 41618357 Free PMC article.
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.
Bereshneh AH, Wilson KA, Pan X, Hannan SB, Cooper MA, Diaz J, Leon E, Moses TM, Azamian MS, Scott DA, Billie Au PY, Appendino JP, Scheffer IE, Kaspi A, Bahlo M, Hildebrand MS, Morgan AT, Ekure E; Baylor College of Medicine Center for Precision Medicine Models; Shulman JM, Hildebrandt F, Posey JE, Kruszka P, Vilain E, Yamamoto S, Kanca O, Berger S, Bellen HJ. Bereshneh AH, et al. Among authors: bellen hj. Genet Med. 2026 Apr;28(4):101685. doi: 10.1016/j.gim.2026.101685. Epub 2026 Jan 16. Genet Med. 2026. PMID: 41556274 Free PMC article.
Rab4 spatially and functionally converges with Rab7 in the degradative endolysosomal network.
Farmer SM, Xu S, Yu Y, Ye X, Yang H, Cai J, Rios B, Lin WW, Covarrubias D, Chuong V, Ye L, Zylberberg G, Wang C, Furr-Stimming E, Tong Q, Kanca O, Bellen HJ, Moore TI, Zhang S. Farmer SM, et al. Among authors: bellen hj. Mol Biol Cell. 2026 Mar 1;37(3):ar18. doi: 10.1091/mbc.E25-08-0368. Epub 2026 Jan 15. Mol Biol Cell. 2026. PMID: 41537736 Free PMC article.
Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models.
Jay KL, Gogate N, Hall PI, Ezell KM, Andrews JC, Jangam SV, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch EA; Brain Gene Registry Consortium; Undiagnosed Diseases Network; Yamamoto S, Kanca O, Bellen HJ, Dierick HA, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Pruthi S, Chen HC, Posey JE, Wangler MF. Jay KL, et al. Among authors: bellen hj. HGG Adv. 2026 Jan 15;7(1):100541. doi: 10.1016/j.xhgg.2025.100541. Epub 2025 Oct 31. HGG Adv. 2026. PMID: 41174879 Free PMC article.
Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila.
Deger JM, Hannan SB, Gu M, Strohlein CE, Goodman LD, Pasupuleti S, Shaik Z, Ma L, Li Y, Li J, Stephens MC, Tyrlík M, Liu Z, Al-Ramahi I, Botas J, Shaw CA, Kanca O, Bellen HJ, Shulman JM. Deger JM, et al. Among authors: bellen hj. Am J Hum Genet. 2025 Dec 4;112(12):2870-2887. doi: 10.1016/j.ajhg.2025.10.003. Epub 2025 Oct 29. Am J Hum Genet. 2025. PMID: 41167194 Free article.
PICALM Alzheimer's risk allele causes aberrant lipid droplets in microglia.
Kozlova A, Zhang S, Sudwarts A, Zhang H, Smirnou S, Byeon SK, Thapa C, Sun X, Stephenson K, Zhao X, Jamison B, Ponnusamy M, He X, Schneider JA, Pandey A, Bennett DA, Pang ZP, Sanders AR, Bellen HJ, Thinakaran G, Duan J. Kozlova A, et al. Among authors: bellen hj. Nature. 2025 Oct;646(8087):1178-1186. doi: 10.1038/s41586-025-09486-x. Epub 2025 Sep 3. Nature. 2025. PMID: 40903578 Free PMC article.
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Ma M, Zheng Y, Deng M, Lu S, Pan X, Luo X, Etoundi M, Li-Kroeger D, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Otten CE, Blanc P, Rosenfeld JA, Dutta D, Yamamoto S, Wangler MF, Glass IA, Chen J, Blue E, Prontera P, Rosain J, Marlin S, Lalani SR, Bellen HJ; Undiagnosed Diseases Network. Ma M, et al. Among authors: bellen hj. Elife. 2025 Aug 27;13:RP95887. doi: 10.7554/eLife.95887. Elife. 2025. PMID: 40862571 Free PMC article.
379 results