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

Year Number of Results
2015 1
2016 9
2017 20
2018 36
2019 59
2020 65
2021 71
2022 57
2023 57
2024 55
2025 32
2026 0

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411 results

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Page 1
Defining a tandem repeat catalog and variation clusters for genome-wide analyses.
Weisburd B, Dolzhenko E, Bennett MF, Danzi MC, Xu IRL, Tanudisastro H, Gu B, English A, Hiatt L, Mokveld T, De Sena Brandine G, Chiu R, Kurtas NE, Jam HZ, Brand H, Babu ISR, Bahlo M, Chaisson MJ, Züchner S, Gymrek M, Dashnow H, Eberle MA, Rehm HL. Weisburd B, et al. bioRxiv [Preprint]. 2025 Dec 29:2024.10.04.615514. doi: 10.1101/2024.10.04.615514. bioRxiv. 2025. PMID: 41279208 Free PMC article. Preprint.
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
Cheng YH, Sedeño-Cortés AE, Ranchalis JE, Munson KM, Vollger MR, Balton E, Genetti CA; Undiagnosed Diseases Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, University of Washington Center for Rare Diseases Research; Wojcik MH, Beggs AH, Bamshad MJ, Wei CL, Dipple KM, Kumar RD, Blue EE, Jarvik G, Chong JX, Witten DM, O'Donnell-Luria A, Stergachis AB. Cheng YH, et al. medRxiv [Preprint]. 2025 Nov 13:2025.11.07.25339764. doi: 10.1101/2025.11.07.25339764. medRxiv. 2025. PMID: 41292655 Free PMC article. Preprint.
Large-scale discovery of neural enhancers for cis-regulation therapies.
McDiarmid TA, Page NF, Chardon FM, Daza RM, Chen GT, Kosicki M, James LM, Nourie HC, Laboy-Cintrón D, Lee AS, Vij P, Calderon D, Lalanne JB, Martin BK, Fink K, Talkowski ME, Muotri AR, Philpot BD, Pennacchio LA, Geschwind DH, Sanders SJ, Ahituv N, Shendure J. McDiarmid TA, et al. bioRxiv [Preprint]. 2025 Nov 5:2025.11.04.686611. doi: 10.1101/2025.11.04.686611. bioRxiv. 2025. PMID: 41278953 Free PMC article. Preprint.
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild … See abstract for full author list ➔ Asadollahi R, et al. Nat Genet. 2025 Nov;57(11):2691-2704. doi: 10.1038/s41588-025-02361-5. Epub 2025 Oct 22. Nat Genet. 2025. PMID: 41125872 Free PMC article.
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.
Gear R, Kalitsis P, Glass M, Isidor B, Vincent-Delorme C, Petit F, Verhagen JMA, Jorge A, Krepischi ACV, Osei-Owusu I, Martinez E, O'Donnell-Luria A, de Leeuw N, Ruggiero S, Helbig I, David F 1st, Brown NJ. Gear R, et al. Am J Med Genet A. 2025 Nov;197(11):e64153. doi: 10.1002/ajmg.a.64153. Epub 2025 Jul 9. Am J Med Genet A. 2025. PMID: 40631915
CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling.
Moyses-Oliveira M, Liu Y, Erdin S, Gao D, Bhavsar R, Mohajeri K, O'Keefe K, Boone PM, Xavier G, Liao C, Li A, Yadav R, Salani M, Lucente D, Currall B, de Esch CEF, Tai DJC, Ruderfer D, Brennand KJ, Gusella JF, Talkowski ME. Moyses-Oliveira M, et al. bioRxiv [Preprint]. 2025 Oct 27:2025.10.27.684870. doi: 10.1101/2025.10.27.684870. bioRxiv. 2025. PMID: 41279137 Free PMC article. Preprint.
Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
Yadav R, Vaine CA, Domingo A, Reed S, Shah S, Gao D, O'Keefe K, Salani M, Lemanski J, Bhavsar R, McMahon MA, Jackson M, Courtney M, Murcar MG, Fernandez-Cerado C, Legarda GPA, Sy M, Velasco-Andrada MS, Muñoz EL, Ang MAC, Diesta CCE, Erdin S, Penney EB, Ozelius L, Sharma N, Bennett CF, Bragg DC, Talkowski ME. Yadav R, et al. medRxiv [Preprint]. 2025 Oct 13:2025.10.10.25336355. doi: 10.1101/2025.10.10.25336355. medRxiv. 2025. PMID: 41282719 Free PMC article. Preprint.
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, de Sainte Agathe JM, Fuerte EPA, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Weirauch NB, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bramswig NC, Bris C, Brosseau-Beauvir A, Bruel AL, Buratti J, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Conrad S, Courtin T, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Denommé-Pichon AS, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, Chehadeh SE, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Härting N, Häusler MG, Heide S, Héron B, Héron D, Heulin M, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Jousselin K, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Labalme A, Laloy… See abstract for full author list ➔ Leitão E, et al. medRxiv [Preprint]. 2025 Sep 4:2025.09.02.25334923. doi: 10.1101/2025.09.02.25334923. medRxiv. 2025. PMID: 40950445 Free PMC article. Preprint.
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, Balla T, Gomes MV, Ramos-Morales E, Schwaller N, Salinas-Giegé T, VanNoy G, England EM, Kern Lovgren A, O'Leary M, Chopra M, Meave Ojeda N, Toosi MB, Eslahi A, Alerasool M, Mojarrad M, Pais LS, Yeh RC, Gable DL, Hashem MO, Abdulwahab F, Rakiz Alqurashi M, Sbeih LZ, Adas Blanco OA, Khater RA, Oprea G, Rad A, Alzaidan H, Aldhalaan H, Tous E, Alsagheir A, Alowain M, Tamim A, Alfayez K, Alhashem A, Alnuzha A, Kamel M, Al-Awam BS, Elnaggar W, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Alkuraya FS, AlAbdi L, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD. Del-Pozo-Rodriguez J, et al. Brain. 2025 Sep 3;148(9):3407-3421. doi: 10.1093/brain/awaf109. Brain. 2025. PMID: 40120092 Free PMC article.
411 results