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An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Biomarker responsiveness in Norwegian Sea mussels, Mytilus edulis, exposed at low temperatures to aqueous fractions of crude oil alone and combined with dispersant.
Marigómez I, Olivares M, Zaldibar B, Benito D, Soto M, Blanco-Rayón E, Lekube X, Izagirre U, Aguirre-Rubí J. Marigómez I, et al. Among authors: benito d. Sci Total Environ. 2024 Oct 10;946:174186. doi: 10.1016/j.scitotenv.2024.174186. Epub 2024 Jun 22. Sci Total Environ. 2024. PMID: 38909801 Free article.
Effects of HMGCR deficiency on skeletal muscle development.
Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Benito DN, Draper I, Bruels CC, Pacak CA, Kang PB. Gunasekaran M, et al. Among authors: benito dn. bioRxiv [Preprint]. 2024 May 8:2024.05.06.591934. doi: 10.1101/2024.05.06.591934. bioRxiv. 2024. PMID: 38903061 Free PMC article. Preprint.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: benito dn. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Common data elements for arthrogryposis multiplex congenita: An international framework.
Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Benito DN, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C, Dahan-Oliel N. Nematollahi S, et al. Among authors: benito dn. Dev Med Child Neurol. 2024 Mar 16. doi: 10.1111/dmcn.15898. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 38491830
The influence of temperature on the effects of lead and lithium in Mytilus galloprovincialis through biochemical, cell and tissue levels: Comparison between mono and multi-element exposures.
Cunha M, Cruz I, Pinto J, Benito D, Ruiz P, Soares AMVM, Pereira E, Izagirre U, Freitas R. Cunha M, et al. Among authors: benito d. Sci Total Environ. 2023 Dec 1;902:165786. doi: 10.1016/j.scitotenv.2023.165786. Epub 2023 Jul 25. Sci Total Environ. 2023. PMID: 37499837 Free article.
Airway fires in otolaryngologic surgery: A database review.
Pasick LJ, Tong JY, Benito DA, Sargi Z, Anis MM. Pasick LJ, et al. Among authors: benito da. Am J Otolaryngol. 2023 Nov-Dec;44(6):104003. doi: 10.1016/j.amjoto.2023.104003. Epub 2023 Jul 15. Am J Otolaryngol. 2023. PMID: 37478536
122 results