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26 results

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Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: herriges j. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Brain malformations and seizures by impaired chaperonin function of TRiC.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Čuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmüller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Häusler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I. Kraft F, et al. Among authors: herriges j. Science. 2024 Nov;386(6721):516-525. doi: 10.1126/science.adp8721. Epub 2024 Oct 31. Science. 2024. PMID: 39480921
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours.
Cooley LD, Lansdon LA, Laurence K, Herriges JC, Zhang L, Repnikova EA, Joyce J, Thakor P, Warren L, Smith SC, Yoo B, Gener M, Ginn KF, Farooqi MS. Cooley LD, et al. Among authors: herriges jc. Cancer Genet. 2023 Jun;274-275:10-20. doi: 10.1016/j.cancergen.2023.02.004. Epub 2023 Mar 5. Cancer Genet. 2023. PMID: 36917897
Critical summer foraging tradeoffs in a subarctic ungulate.
Ehlers L, Coulombe G, Herriges J, Bentzen T, Suitor M, Joly K, Hebblewhite M. Ehlers L, et al. Among authors: herriges j. Ecol Evol. 2021 Dec 6;11(24):17835-17872. doi: 10.1002/ece3.8349. eCollection 2021 Dec. Ecol Evol. 2021. PMID: 35003643 Free PMC article.
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.
Lansdon LA, Cadieux-Dion M, Yoo B, Miller N, Cohen ASA, Zellmer L, Zhang L, Farrow EG, Thiffault I, Repnikova EA, Cooley LD, Alaimo JT, Porath B, Herriges JC, Saunders CJ, Farooqi MS. Lansdon LA, et al. Among authors: herriges jc. J Mol Diagn. 2021 May;23(5):651-657. doi: 10.1016/j.jmoldx.2021.02.003. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631350 Free article.
26 results