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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 20
2025 8

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368 results

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Page 1
Distinct systemic impacts of Aβ42 and Tau revealed by whole-organism snRNA-seq.
Park YJ, Lu TC, Jackson T, Goodman LD, Ran L, Chen J, Liang CY, Harrison E, Ko C, Chen X, Wang B, Hsu AL, Ochoa E, Bieniek KF, Yamamoto S, Zhu Y, Zheng H, Qi Y, Bellen HJ, Li H. Park YJ, et al. Among authors: bellen hj. Neuron. 2025 May 13:S0896-6273(25)00299-5. doi: 10.1016/j.neuron.2025.04.017. Online ahead of print. Neuron. 2025. PMID: 40381615
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Mok JW, Mackay L, Blazo M, Mizerik E, Gecz J, Carroll R, Nizon M, Rondeau S, Joubert M, Cuinat S, Deb W, Valle Sirias F, Weisz-Hubshman M, Ketkar S, Polak U, Tran AA, Kearney D, Hanchard NA, Kanca O, Wangler MF, Bellen HJ, Lee BH; Baylor College of Medicine Center for Precision Medicine Models; Yamamoto S, Machol K. Mok JW, et al. Among authors: bellen hj. Genet Med. 2025 Apr 10;27(7):101429. doi: 10.1016/j.gim.2025.101429. Online ahead of print. Genet Med. 2025. PMID: 40221893
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.
Bereshneh AH, Andrews JC, Eberl DF, Bademci G, Borja NA, Bivona S; Undiagnosed Diseases Network; Baylor College of Medicine Center for Precision Medicine Models; Chung WK, Yamamoto S, Wangler MF, McKee S, Tekin M, Bellen HJ, Kanca O. Bereshneh AH, et al. Among authors: bellen hj. Am J Hum Genet. 2025 Apr 3;112(4):846-862. doi: 10.1016/j.ajhg.2025.02.019. Epub 2025 Mar 14. Am J Hum Genet. 2025. PMID: 40088891
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Booth KTA, Jangam SV, Chui MMC, Treat K, Graziani L, Soldano A, Ruan Y, Wan-Hei Hui J, White K, Christensen CK, Lynnes T, Yamamoto S, Kanca O, Tsang MHY, Lynch SA, Mullegama SV, Batista J, Iancu D, Joss SK, Wong SYY, Mak CCY, Kwong AKY, Bellen HJ, Conboy E, Sanges R, Leung AY, Wangler MF, Chung BHY, Vetrini F. Booth KTA, et al. Among authors: bellen hj. Brain. 2025 Feb 7:awaf035. doi: 10.1093/brain/awaf035. Online ahead of print. Brain. 2025. PMID: 39918047
A conserved role for ALG10/ALG10B and the N -glycosylation pathway in the sleep-epilepsy axis.
Gill S, Mandigo TR, Elmali AD, Leger BS, Yang B, Tran S, Laosuntisuk K, Lane JM, Bannister D, Aonbangkhen C, Ormerod KG, Mahama B, Schuch KN, Elya C, Akhund-Zade J, Math SR, LoRocco NC, Seo S, Maher M, Kanca O, Bebek N, Karadeniz D, Senel GB, Courage C, Lehesjoki AE, Winkelman JW, Bellen HJ, de Bivort B, Hart AC, Littleton JT, Baykan B, Doherty CJ, Melkani GC, Prober DA, Woo CM, Saxena R, Schreiber SL, Walker JA. Gill S, et al. Among authors: bellen hj. medRxiv [Preprint]. 2024 Dec 13:2024.12.11.24318624. doi: 10.1101/2024.12.11.24318624. medRxiv. 2024. PMID: 39711723 Free PMC article. Preprint.
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
Aceves-Ewing NM, Lanza DG, Marcogliese PC, Lu D, Hsu CW, Gonzalez M, Christiansen AE, Rasmussen TL, Ho AJ, Gaspero A, Seavitt J, Dickinson ME, Yuan B, Shayota BJ, Pachter S, Hu X, Day-Salvatore DL, Mackay L, Kanca O, Wangler MF, Potocki L, Rosenfeld JA, Lewis RA, Chao HT, Lee B, Lee S; Undiagnosed Diseases Network; Baylor College of Medicine Center for Precision Medicine Models; Yamamoto S, Bellen HJ, Burrage LC, Heaney JD. Aceves-Ewing NM, et al. Among authors: bellen hj. medRxiv [Preprint]. 2025 Mar 1:2024.12.05.24318524. doi: 10.1101/2024.12.05.24318524. medRxiv. 2025. PMID: 39677486 Free PMC article. Preprint.
Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models.
Jay KL, Gogate N, Ezell K, Andrews JC, Jangam SV, Hall PI, Pan H, Pham K, German R, Gomez V, Jellinek-Russo E, Storch E; Brain Gene Registry Consortium, Undiagnosed Diseases Network; Yamamoto S, Kanca O, Bellen HJ, Dierick H, Cogan JD, Phillips JA, Hamid R, Cassini T, Rives L, Posey JE, Wangler MF. Jay KL, et al. Among authors: bellen hj. medRxiv [Preprint]. 2024 Sep 28:2024.09.27.24314092. doi: 10.1101/2024.09.27.24314092. medRxiv. 2024. PMID: 39399018 Free PMC article. Preprint.
368 results