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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: van wijk r. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Among authors: van wijk r. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
Clinical and Imaging Characteristics, Care Pathways, and Outcomes of Traumatic Epidural Hematomas: A Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury Study.
Pisică D, Volovici V, Yue JK, van Essen TA, den Boogert HF, Vande Vyvere T, Haitsma I, Nieboer D, Markowitz AJ, Yuh EL, Steyerberg EW, Peul WC, Dirven CMF, Menon DK, Manley GT, Maas AIR, Lingsma HF; CENTER-TBI Participants and Investigators. Pisică D, et al. Neurosurgery. 2024 May 21. doi: 10.1227/neu.0000000000002982. Online ahead of print. Neurosurgery. 2024. PMID: 38771081
Early versus delayed cranioplasty after decompressive craniectomy in traumatic brain injury: a multicenter observational study within CENTER-TBI and Net-QuRe.
Vreeburg RJG, Singh RD, van Erp IAM, Korhonen TK, Yue JK, Mee H, Timofeev I, Kolias A, Helmy A, Depreitere B, Moojen WA, Younsi A, Hutchinson P, Manley GT, Steyerberg EW, de Ruiter GCW, Maas AIR, Peul WC, van Dijck JTJM, den Boogert HF, Posti JP, van Essen TA; for the CENTER-TBI Participants and Investigators. Vreeburg RJG, et al. J Neurosurg. 2024 Apr 26:1-13. doi: 10.3171/2024.1.JNS232172. Online ahead of print. J Neurosurg. 2024. PMID: 38669706
Frequency and predictors of headache in the first 12 months after traumatic brain injury: results from CENTER-TBI.
Howe EI, Andelic N, Brunborg C, Zeldovich M, Helseth E, Skandsen T, Olsen A, Fure SCR, Theadom A, Rauen K, Madsen BÅ, Jacobs B, van der Naalt J, Tartaglia MC, Einarsen CE, Storvig G, Tronvik E, Tverdal C, von Steinbüchel N, Røe C, Hellstrøm T; CENTER-TBI Participants and Investigators. Howe EI, et al. J Headache Pain. 2024 Mar 25;25(1):44. doi: 10.1186/s10194-024-01751-0. J Headache Pain. 2024. PMID: 38528477 Free PMC article.
Early vs Late Fixation of Extremity Fractures Among Adults With Traumatic Brain Injury.
Zheng J, Ouyang Y, Zhang K, Wang Z, Younsi A, Alhalabi O, Fu H; Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) Investigators and Participants. Zheng J, et al. JAMA Netw Open. 2024 Mar 4;7(3):e241556. doi: 10.1001/jamanetworkopen.2024.1556. JAMA Netw Open. 2024. PMID: 38457181 Free PMC article.
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Ukonmaanaho EM, Dell'Anna S, Hakonen A, Wartiovaara-Kautto U, Kakko S, Rab MAE, van Oirschot B, Kraatari-Tiri M, van Wijk R, Rahikkala E. Ukonmaanaho EM, et al. Among authors: van wijk r. Br J Haematol. 2024 May;204(5):2040-2048. doi: 10.1111/bjh.19368. Epub 2024 Feb 28. Br J Haematol. 2024. PMID: 38415930 Review.
600 results