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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: granger l. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, Burton J, Hoganson G, Petersen A, Gracie S, Granger L, Bartels E, Oppermann H, Kundishora A, Till M, Milleret-Pignot C, Dangerfield S, Viskochil D, Anderson KJ, Palculict TB, Schnur RE, Wentzensen IM, Tiller GE, Kahle KT, Kunz WS, Burkart S, Simons M, Sticht H, Abou Jamra R, Neuser S. Ahmad N, et al. Among authors: granger l. Pediatr Neurol. 2023 Nov;148:164-171. doi: 10.1016/j.pediatrneurol.2023.08.023. Epub 2023 Aug 24. Pediatr Neurol. 2023. PMID: 37734130
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW. Scala M, et al. Among authors: granger l. medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383. medRxiv. 2023. PMID: 38234782 Free PMC article. Preprint.
How autoreactive thymocytes differentiate into regulatory versus effector CD4+ T cells after avoiding clonal deletion.
Tai X, Indart A, Rojano M, Guo J, Apenes N, Kadakia T, Craveiro M, Alag A, Etzensperger R, Badr ME, Zhang F, Zhang Z, Mu J, Guinter T, Crossman A, Granger L, Sharrow S, Zhou X, Singer A. Tai X, et al. Among authors: granger l. Nat Immunol. 2023 Apr;24(4):637-651. doi: 10.1038/s41590-023-01469-2. Epub 2023 Mar 23. Nat Immunol. 2023. PMID: 36959291 Free PMC article.
Letter to the Editor regarding: "Preoperative Prediction of Gartland IV Supracondylar Fractures of Humerus: Is it Possible?" Barik S, Singh G, Maji S, Azam Q, Singh V. Rev Bras Ortop 2021;56(2):230-234.
Rehm A, Granger L, Ashby E. Rehm A, et al. Among authors: granger l. Rev Bras Ortop (Sao Paulo). 2022 Feb 15;57(5):896-897. doi: 10.1055/s-0042-1742598. eCollection 2022 Oct. Rev Bras Ortop (Sao Paulo). 2022. PMID: 36226200 Free PMC article. No abstract available.
151 results