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Year Number of Results
2011 2
2012 2
2013 3
2014 1
2015 4
2016 4
2017 1
2018 4
2019 8
2020 4
2021 5
2022 13
2023 7
2024 3

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Page 1
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
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.
An overview on chemical structures as ΔF508-CFTR correctors.
Spanò V, Montalbano A, Carbone A, Scudieri P, Galietta LJV, Barraja P. Spanò V, et al. Among authors: scudieri p. Eur J Med Chem. 2019 Oct 15;180:430-448. doi: 10.1016/j.ejmech.2019.07.037. Epub 2019 Jul 15. Eur J Med Chem. 2019. PMID: 31326599 Review.
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
Baldassari S, Cervetto C, Amato S, Fruscione F, Balagura G, Pelassa S, Musante I, Iacomino M, Traverso M, Corradi A, Scudieri P, Maura G, Marcoli M, Zara F. Baldassari S, et al. Among authors: scudieri p. Int J Mol Sci. 2022 Sep 11;23(18):10545. doi: 10.3390/ijms231810545. Int J Mol Sci. 2022. PMID: 36142455 Free PMC article.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Calì E, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V. Accogli A, et al. Among authors: scudieri p. Cerebellum. 2023 Apr;22(2):206-222. doi: 10.1007/s12311-022-01379-3. Epub 2022 Feb 26. Cerebellum. 2023. PMID: 35218524 Free PMC article.
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders.
Baldassari S, Musante I, Iacomino M, Zara F, Salpietro V, Scudieri P. Baldassari S, et al. Among authors: scudieri p. Front Cell Dev Biol. 2020 Oct 12;8:590119. doi: 10.3389/fcell.2020.590119. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33154971 Free PMC article. Review.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: scudieri p. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
55 results