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Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.
Bélanger C, Bérubé-Simard FA, Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Bélanger C, et al. Among authors: moccia a. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629. doi: 10.1073/pnas.1715378115. Epub 2018 Jan 8. Proc Natl Acad Sci U S A. 2018. PMID: 29311329 Free PMC article.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Harding BN, Moccia A, Drunat S, Soukarieh O, Tubeuf H, Chitty LS, Verloes A, Gressens P, El Ghouzzi V, Joriot S, Di Cunto F, Martins A, Passemard S, Bielas SL. Harding BN, et al. Among authors: moccia a. Am J Hum Genet. 2016 Aug 4;99(2):511-20. doi: 10.1016/j.ajhg.2016.07.003. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453579 Free PMC article.
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Moccia A, et al. Genet Med. 2018 Sep;20(9):1022-1029. doi: 10.1038/gim.2017.233. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300383 Free PMC article.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Jordan VK, et al. Among authors: moccia an. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25. Hum Mutat. 2018. PMID: 29330883 Free PMC article.
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.
Werren EA, Guxholli A, Jones N, Wagner M, Hannibal I, Granadillo JL, Tyndall AV, Moccia A, Kuehl R, Levandoski KM, Day-Salvatore DL, Wheeler M; University of Washington Center for Mendelian Genomics; Chong JX, Bamshad MJ, Innes AM, Pierson TM, Mackay JP, Bielas SL, Martin DM. Werren EA, et al. Among authors: moccia a. HGG Adv. 2023 Apr 20;4(3):100198. doi: 10.1016/j.xhgg.2023.100198. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37181331 Free PMC article.
A look at the past to draw lessons for the future: how the case of an urgent ICU transfer taught us to always be ready with a plan B.
Brunelli L, Miotto E, Del Pin M, Celotto D, Moccia A, Borghi G, De Monte A, Macor C, Cocconi R, Lattuada L, Brusaferro S, Arnoldo L. Brunelli L, et al. Among authors: moccia a. Front Med (Lausanne). 2023 Nov 20;10:1253673. doi: 10.3389/fmed.2023.1253673. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38053617 Free PMC article.
Altered H3K4me3 profile at the TFAM promoter causes mitochondrial alterations in preadipocytes from first-degree relatives of type 2 diabetics.
Longo M, Zatterale F, Spinelli R, Naderi J, Parrillo L, Florese P, Nigro C, Leone A, Moccia A, Desiderio A, Raciti GA, Miele C, Smith U, Beguinot F. Longo M, et al. Among authors: moccia a. Clin Epigenetics. 2023 Sep 7;15(1):144. doi: 10.1186/s13148-023-01556-z. Clin Epigenetics. 2023. PMID: 37679776 Free PMC article.
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