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2011 1
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28 results

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Page 1
Human assembloid model of the ascending neural sensory pathway.
Kim JI, Imaizumi K, Jurjuț O, Kelley KW, Wang D, Thete MV, Hudacova Z, Amin ND, Levy RJ, Scherrer G, Pașca SP. Kim JI, et al. Among authors: levy rj. Nature. 2025 Jun;642(8066):143-153. doi: 10.1038/s41586-025-08808-3. Epub 2025 Apr 9. Nature. 2025. PMID: 40205039 Free PMC article.
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I, Douzgou Houge S, Hsieh TC, Lesmann H, Kirchhoff A, Geneviève D, Brimble E, Lenaerts L, Haesen D, Levy RJ, Thevenon J, Faivre L, Marco E, Chong JX, Bamshad M, Patterson K, Mirzaa GM, Foss K, Dobyns W, White SM, Pais L, O'Heir E, Itzikowitz R, Donald KA, Van der Merwe C, Mussa A, Cervini R, Giorgio E, Roscioli T, Dias KR, Evans CA, Brown NJ, Ruiz A, Trujillo Quintero JP, Rabin R, Pappas J, Yuan H, Lachlan K, Thomas S, Devlin A, Wright M, Martin R, Karwowska J, Posmyk R, Chatron N, Stark Z, Heath O, Delatycki M, Buchert R, Korenke GC, Ramsey K, Narayanan V, Grange DK, Weisenberg JL, Haack TB, Karch S, Kipkemoi P, Mangi M, Bindels de Heus KGCB, de Wit MY, Barakat TS, Lim D, Van Winckel G, Spillmann RC, Shashi V, Jacob M, Stehr AM; Undiagnosed Diseases Network; Krawitz P, Douzgos Houge G, Janssens V. Verbinnen I, et al. Among authors: levy rj. Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19. Am J Hum Genet. 2025. PMID: 39978342 Free PMC article.
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan AT, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch T, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M. Elkhateeb N, et al. Among authors: levy rj. Genet Med. 2025 Mar;27(3):101348. doi: 10.1016/j.gim.2024.101348. Epub 2024 Dec 27. Genet Med. 2025. PMID: 39737487 Free article.
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Rius R, Blakes AJM, Chen Y, De Jonghe J, Lecoquierre F, Dawes R, Cogne B, Kim HC, Alvi JR, Amblard F, Ansari M, Arlt A, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Beleza-Meireles A, Bernstein JA, Beygo J, Blanc P, Bramswig NC, Braun F, Buchzik D, Calame DG, Campbell J, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Ewans LJ, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Helbig I, Horvath J, Hustinx A, Isidor B, Jacquemont ML, Jamie F, Jeanne M, Kessler R, Klinkhammer H, Korenke GC, Kotzaeridou U, Krawitz P, Laurie S, Leventer RJ, Levy RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O'Donnell-Luria A, O'Leary MC, Olivieri S, Parida A, Pehlivan D, Prentice AJ, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Taylor J, Thauvin-Robinet C, Thevenon J, Uebergang E, Ueberberg S, Vincent-Delorme C, Wassmer E, Westwood E, Wheeler MT, Gulec EY, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N. Rius R, et al. Among authors: levy rj. Nat Genet. 2026 Apr;58(4):761-773. doi: 10.1038/s41588-026-02554-6. Epub 2026 Apr 8. Nat Genet. 2026. PMID: 41951959 Free PMC article.
Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.
Underwood JFG, Timothy KW, Tyroll H, Levy RJ, Dick IE, Pitt GS, Tunbridge EM, Baban A, Wilkinson G, Hall NAL, Brugada GS, Bauer R, Abrams D, Hall J; Timothy Syndrome Foundation; Timothy Syndrome Alliance (TSA). Underwood JFG, et al. Among authors: levy rj. Res Sq [Preprint]. 2025 Nov 17:rs.3.rs-8058536. doi: 10.21203/rs.3.rs-8058536/v1. Res Sq. 2025. PMID: 41333400 Free PMC article. Preprint.
Delineating the epilepsy phenotype of NGLY1 deficiency.
Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. Levy RJ, et al. J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11. J Inherit Metab Dis. 2022. PMID: 35243670
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.
Kennis MGP, Rots D, Bouman A, Ockeloen CW, Boelen C, Marcelis CLM, de Vries BBA, Elting MW, Waisfisz Q, Suri M, Font-Montgomery E, Peck DS, Donnelly DE, Rogers RC, Richardson R, Caumes R, Chaumette B, Louveau C, Sallevelt SCEH, Maas SM, Smits JJ, van Haelst MM, Levy RJ, Stewart H, Loeys BL, Pfundt R, Kleefstra T, Snijders Blok L. Kennis MGP, et al. Among authors: levy rj. Eur J Hum Genet. 2025 Aug;33(8):980-988. doi: 10.1038/s41431-025-01832-x. Epub 2025 Mar 31. Eur J Hum Genet. 2025. PMID: 40164730 Free PMC article.
28 results