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Page 1
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Anderson EN, Drukewitz S, Kour S, Chimata AV, Rajan DS, Schönnagel S, Stals KL, Donnelly D, O'Sullivan S, Mantovani JF, Tan TY, Stark Z, Zacher P, Chatron N, Monin P, Drunat S, Vial Y, Latypova X, Levy J, Verloes A, Carter JN, Bonner DE, Shankar SP, Bernstein JA, Cohen JS, Comi A, Carere DA, Dyer LM, Mullegama SV, Sanchez-Lara PA, Grand K, Kim HG, Ben-Mahmoud A, Gospe SM Jr, Belles RS, Bellus G, Lichtenbelt KD, Oegema R, Rauch A, Ivanovski I, Mau-Them FT, Garde A, Rabin R, Pappas J, Bley AE, Bredow J, Wagner T, Decker E, Bergmann C, Domenach L, Margot H; Undiagnosed Diseases Network; Lemke JR, Abou Jamra R, Hentschel J, Mefford H, Singh A, Pandey UB, Platzer K. Anderson EN, et al. Among authors: abou jamra r. Am J Hum Genet. 2026 Jan 8;113(1):100-116. doi: 10.1016/j.ajhg.2025.12.004. Epub 2025 Dec 29. Am J Hum Genet. 2026. PMID: 41468891 Free PMC article.
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizerik E, Srivastava S, Luo X, Dahse AK, Scholz N, Das J, Roman G, Langenhan T, Abou Jamra R, Mrestani A, Ljaschenko D. Müller F, et al. Among authors: abou jamra r. Biochem Biophys Rep. 2025 Nov 28;45:102375. doi: 10.1016/j.bbrep.2025.102375. eCollection 2026 Mar. Biochem Biophys Rep. 2025. PMID: 41399760 Free PMC article.
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden GM, Bosc-Rosati A, Hsieh TC, Bray L, Oloudé M, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel FG, Wolfgramm S, Florenceau L, Cuinat S, Marsac S, Verrès Y, Dangoumau A, Poirier L, Wentzensen IM, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter MS, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson LC, Costin C, Abdulrazak A, Jobling RK, Pappas J, Rabin R, Niyazov D, Chun-Hui Tsai A, Kovak K, Beck DB, Malicdan MCV, Adams DR, Wolfe L, Ganetzky RD, Muraresku CC, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Saif HA, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton MJ, Bryson LJ, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropo… See abstract for full author list ➔ Küry S, et al. Among authors: abou jamra r. Nat Commun. 2025 Nov 26;16(1):10545. doi: 10.1038/s41467-025-65556-8. Nat Commun. 2025. PMID: 41298377 Free PMC article.
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.
Bresack B, Kohl LR, Afenjar A, Audic F, Burglen L, Charles P, Dundar NO, van de Kamp J, Machol K, Magoulas P, Goze-Martineau O, Motazacker M, Philippi H, Reyes A, Tutakhel OAZ, Bertoli-Avella A, Sticht H, Abou Jamra R, Oppermann H. Bresack B, et al. Among authors: abou jamra r. Am J Hum Genet. 2025 Dec 4;112(12):2961-2972. doi: 10.1016/j.ajhg.2025.10.015. Epub 2025 Nov 19. Am J Hum Genet. 2025. PMID: 41265451
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.
Thormeyer V, Meyer Z, Polster T, Borggraefe I, Wallacher B, Korenke GC, Catenoix H, Panagiotakaki E, Wolff M, Kluger G, Hartlieb T, Anke B, Leiz S, Abou Jamra R, Lesca G, Kaindl A, Schwarz JM, Strehlow V, Stoeva R, Garde A, Faivre L, Racine C, Schlump JU, Zacher P, Latour P, Panzer A. Thormeyer V, et al. Among authors: abou jamra r. Neuropediatrics. 2026 Feb;57(1):17-26. doi: 10.1055/a-2731-4858. Epub 2025 Nov 19. Neuropediatrics. 2026. PMID: 41260400
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-Roth… See abstract for full author list ➔ Asadollahi R, et al. Among authors: abou jamra r. 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.
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Peng X, Jia X, Wang H, Chen J, Zhang X, Tan S, Duan X, Qiu C, Hu M, Hou H, Parenti I, Kuechler A, Kaiser FJ, Renck A, Caylor R, Skinner C, Peeden J, Cogne B, Isidor B, Mercier S, Nicolas G, Guerrot AM, Faletra F, Musante L, Cohen L, Bergant G, Čuturilo G, Peterlin B, Seeley A, Bachman K, Martinez-Agosto JA, van Ravenswaaij-Arts C, Bos D, Kim KH, Bartolomaeus T, Schmederer Z, Abou Jamra R, Aref-Eshghi E, Zhao W, Zou Y, Hu Z, Pan Q, Li F, Chen G, Li J, Hu Z, Xia K, Tan J, Guo H. Peng X, et al. Among authors: abou jamra r. J Clin Invest. 2025 Sep 18;135(22):e191729. doi: 10.1172/JCI191729. eCollection 2025 Nov 17. J Clin Invest. 2025. PMID: 40966122 Free PMC article.
Overview and expansion of CEP85L-associated lissencephaly.
Schumann I, Abou Jamra R, Jauss RT, Karnstedt M, Specht U, Zacher P, Woermann F, Yaron Y, Popp B. Schumann I, et al. Among authors: abou jamra r. Eur J Med Genet. 2025 Oct;77:105042. doi: 10.1016/j.ejmg.2025.105042. Epub 2025 Aug 22. Eur J Med Genet. 2025. PMID: 40850669 Free article. Review.
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
van Oirsouw ASE, Nedbalova P, Hancarova M, Prchal J, Prchalova D, Vlckova M, Bendova S, Monaghan KG, Dyer LM, Chen Y, Carere DA, Te Bogt EAM, Fisher H, Scheuerle AE, Riley S, Jain M, Mu W, Bodurtha JN, van Eerde AM, Stokman MF, Longo N, Balasubramanian M, Spiller M, Costain G, von der Lippe C, Tveten K, Jortveit M, Holla ØL, Isidor B, Cogné B, Glinton KE, Vuocolo B, Sierra RA, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg DA, Joset P, Miny P, Filges I, Alali A, Vitalone K, Rosenfeld JA, Bi W, Bradbrook S, Perrier R, Ramanathan S, Gold JA, Palomares Bralo M, Ángeles Gómez-Cano M, Olney AH, Nielsen S, Ziegler A, Bonneau D, Prouteau C, Bruel AL, Caille-Benigni C, Lambert L, Yu AC, Robin NH, Goodloe D, Fischer J, Porrmann J, Hennig YD, Abou Jamra R, Herman I, Johnson IR, Hérissant L, Jouret G, van Gassen KLI, van Binsbergen E, van der Zwaag B, Kamermans A, Oegema R, Sedlacek Z, Fenckova M, van Jaarsveld RH. van Oirsouw ASE, et al. Among authors: abou jamra r. Genet Med. 2025 Nov;27(11):101555. doi: 10.1016/j.gim.2025.101555. Epub 2025 Aug 13. Genet Med. 2025. PMID: 40819229 Free article.
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martinez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S, Mao X. Ji L, et al. Among authors: abou jamra r. J Clin Invest. 2025 Jul 3;135(18):e186119. doi: 10.1172/JCI186119. eCollection 2025 Sep 16. J Clin Invest. 2025. PMID: 40608414 Free PMC article.
141 results