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Page 1
Did you mean linberg j (66 results)?
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Hirschenberger M, Lepelley A, Rupp U, Klute S, Hunszinger V, Koepke L, Merold V, Didry-Barca B, Wondany F, Bergner T, Moreau T, Rodero MP, Rösler R, Wiese S, Volpi S, Gattorno M, Papa R, Lynch SA, Haug MG, Houge G, Wigby KM, Sprague J, Lenberg J, Read C, Walther P, Michaelis J, Kirchhoff F, de Oliveira Mann CC, Crow YJ, Sparrer KMJ. Hirschenberger M, et al. Among authors: lenberg j. Nat Commun. 2023 Nov 1;14(1):6770. doi: 10.1038/s41467-023-42150-4. Nat Commun. 2023. PMID: 37914730 Free PMC article.
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Nagy S, Pagnamenta AT, Cali E, Braakman HMH, Wijntjes J, Kusters B, Gotkine M, Elpeleg O, Meiner V, Lenberg J, Wigby K, Friedman J, Perry LD, Rossor AM, Uhrova Meszarosova A, Thomasova D, Jacob S, O'Driscoll M, De Simone L, Grange DK, Sommerville R, Firoozfar Z, Alavi S, Mazaheri M, Parmar JM, Lamont PJ, Pini V, Sarkozy A, Muntoni F, Ravenscroft G, Jones E, O'Rourke D, Nel M, Heckmann JM, Kvalsund M, Kapapa MM, Wa Somwe S, Bearden DR, Çakar A, Childs AM, Horvath R, Reilly MM, Houlden H, Maroofian R. Nagy S, et al. Among authors: lenberg j. Brain Commun. 2024 Oct 28;6(6):fcae377. doi: 10.1093/braincomms/fcae377. eCollection 2024. Brain Commun. 2024. PMID: 39502942 Free PMC article.
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: lenberg j. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
Domain specific phenotypic expansion associated with variants in MACF1.
Gogate N, Jolly A, Rosenfeld JA, Bahena-Carbajal P, Bernstein JA, Bonner D, Busa T, Cristian I, D'Souza P, Friedman J, Gorokhova S, Haaf T, Herman I, Isin UU, Jhangiani SN, Johnson I, Lenberg J, Macnamara EF, Maroofian R; Undiagnosed Diseases Network, Melissa Racobaldo; Redlich OL, Tifft C, Tos T, Vona B, Zambrano RM, Wentzensen IM, Wigby K, Pehlivan D, Gibbs RA, Lupski JR, Posey JE. Gogate N, et al. Among authors: lenberg j. medRxiv [Preprint]. 2025 Jun 28:2025.06.26.25330137. doi: 10.1101/2025.06.26.25330137. medRxiv. 2025. PMID: 40666329 Free PMC article. Preprint.
Long-term follow-up of children who received rapid genomic sequencing.
Sanford Kobayashi E, Tobin LE, Arenchild M, Benson W, Coufal NG, Juarez EF, Kingsmore SF, Knight J, Lenberg J, Schwarz A, Vargas-Shiraishi O, Wigby K, Bainbridge M. Sanford Kobayashi E, et al. Among authors: lenberg j. Genet Med. 2025 Jun;27(6):101403. doi: 10.1016/j.gim.2025.101403. Epub 2025 Mar 7. Genet Med. 2025. PMID: 40062436
Expanding the genotypic spectrum of ACTG2-related visceral myopathy.
James KN, Lau M, Shayan K, Lenberg J, Mardach R, Ignacio R Jr, Halbach J, Choi L, Kumar S, Ellsworth KA. James KN, et al. Among authors: lenberg j. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a006085. doi: 10.1101/mcs.a006085. Print 2021 Jun. Cold Spring Harb Mol Case Stud. 2021. PMID: 33883208 Free PMC article.
Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation.
Mortazavi M, Batalov S, Lenberg J, Blucher C, Omorodion A, Helbling D, Van Der Kraan L, Bezares-Orin Z, Ramalingam A, Bainbridge MN, Sebat J, Besterman AD. Mortazavi M, et al. Among authors: lenberg j. Am J Psychiatry. 2025 Aug 1;182(8):722-727. doi: 10.1176/appi.ajp.20240471. Epub 2025 Apr 9. Am J Psychiatry. 2025. PMID: 40200712 No abstract available.
29 results