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Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa.
Genes (Basel). 2023 Sep 22;14(10):1835. doi: 10.3390/genes14101835.
Genes (Basel). 2023.
PMID: 37895184
Free PMC article.
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium.
Yaldiz B, et al.
Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5.
Hum Genomics. 2023.
PMID: 37138343
Free PMC article.
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L.
Denommé-Pichon AS, et al.
Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20.
Genet Med. 2023.
PMID: 36681873
Free article.
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Invasive Mechanical Ventilation in Traumatic Brain Injured Patients with Acute Respiratory Failure.
Racca F, Geraci C, Cremascoli L, Ruvolo D, Piccolella F, Romenskaya T, Longhitano Y, Martuscelli E, Saviano A, Savioli G, Zanza C.
Racca F, et al. Among authors: ruvolo d.
Rev Recent Clin Trials. 2023;18(1):3-11. doi: 10.2174/1574887117666220826164723.
Rev Recent Clin Trials. 2023.
PMID: 36043786
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Implementing a digital clinical decision support tool for side effects of antipsychotics: a focus group study.
Henshall C, Cipriani A, Ruvolo D, Macdonald O, Wolters L, Koychev I.
Henshall C, et al. Among authors: ruvolo d.
Evid Based Ment Health. 2019 May;22(2):56-60. doi: 10.1136/ebmental-2019-300086. Epub 2019 Apr 15.
Evid Based Ment Health. 2019.
PMID: 30987972
Free PMC article.
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Absence of practice effects in preclinical Alzheimer's disease.
Hassenstab J, Ruvolo D, Jasielec M, Xiong C, Grant E, Morris JC.
Hassenstab J, et al. Among authors: ruvolo d.
Neuropsychology. 2015 Nov;29(6):940-8. doi: 10.1037/neu0000208. Epub 2015 May 25.
Neuropsychology. 2015.
PMID: 26011114
Free PMC article.
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