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Page 1
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, Sarquella Brugada G, Bauer R, Abrams D, Hall J; Timothy Syndrome Alliance (TSA). Underwood JFG, et al. Among authors: levy rj. Eur J Hum Genet. 2026 Jul 9. doi: 10.1038/s41431-026-02178-8. Online ahead of print. Eur J Hum Genet. 2026. PMID: 42426153 Review.
Author Correction: 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 Jun;58(6):1447. doi: 10.1038/s41588-026-02636-5. Nat Genet. 2026. PMID: 42151417 Free PMC article. No abstract available.
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.
Niehaus AD, Bonner DE, Carter J, Avello K, Jacob N, Neu MB, Mendez R, Qiao W, Scott SA, Levy RJ, Mattas L, Schymick J, Van Andel M, Muntoni F, Mueller J, Sarkozy A, DiTroia S, O'Leary M, Neale A, O'Donnell-Luria A, Toro C, Wolfe LA, Martinez-Agosto JA, Montgomery SB, Wheeler MT, Bernstein JA, Tise CG. Niehaus AD, et al. Among authors: levy rj. Am J Med Genet A. 2026 Apr 19. doi: 10.1002/ajmg.a.70162. Online ahead of print. Am J Med Genet A. 2026. PMID: 42002855
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.
Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.
Mendez R, Arriaga TM, Ma J, Bonner DE, Emami S, Levy RJ, Alsagheir A, Alhaddad B, Bakur K, Ungar RA, Matalon DR, Miller AM, Nguyen J, Smith KS, Scott SA, Liao L, Ng Z, Marwaha S, Ward A; Undiagnosed Diseases Network; Genomics Research to Elucidate the Genetics of Rare Diseases Consortium; Novacic D, Alkuraya FS, Bernstein JA, Ganesh VS, O'Donnell-Luria A, Montgomery SB, Wheeler MT. Mendez R, et al. Among authors: levy rj. HGG Adv. 2026 Apr 9;7(2):100588. doi: 10.1016/j.xhgg.2026.100588. Epub 2026 Mar 9. HGG Adv. 2026. PMID: 41808409 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. Update in: Eur J Hum Genet. 2026 Jul 9. doi: 10.1038/s41431-026-02178-8. PMID: 41333400 Free PMC article. Updated. Preprint.
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.
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.
29 results