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For: Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 2019;105:493-508. [PMID: 31447100 DOI: 10.1016/j.ajhg.2019.07.007] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 11.3] [Reference Citation Analysis]
Number Citing Articles
1 Feng H, Zhou BR, Schwieters CD, Bai Y. Structural Mechanism of TAF-Iβ Chaperone Function on Linker Histone H1.10. J Mol Biol 2022;434:167755. [PMID: 35870650 DOI: 10.1016/j.jmb.2022.167755] [Reference Citation Analysis]
2 Priolo M, Mancini C, Pizzi S, Chiriatti L, Radio FC, Cordeddu V, Pintomalli L, Mammì C, Dallapiccola B, Tartaglia M. Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants. Genes 2022;13:889. [DOI: 10.3390/genes13050889] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Tessadori F, Duran K, Knapp K, Fellner M, Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G; Deciphering Developmental Disorders Study. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am J Hum Genet 2022;109:750-8. [PMID: 35202563 DOI: 10.1016/j.ajhg.2022.02.003] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 González-tarancón R, Salvador-rupérez E, Goñi-ros N, Álvarez SI, Sánchez-navarro I, García MM, Segura JLP, Lafuente AL. A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report. Egypt J Med Hum Genet 2022;23. [DOI: 10.1186/s43042-022-00265-1] [Reference Citation Analysis]
5 Zhao J, Lyu G, Ding C, Wang X, Li J, Zhang W, Yang X, Zhang VW. Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients. Molec Gen & Gen Med. [DOI: 10.1002/mgg3.1825] [Reference Citation Analysis]
6 Lubin E, Bryant L, Aicher J, Li D, Bhoj E. Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0. Hum Genet. [DOI: 10.1007/s00439-022-02432-1] [Reference Citation Analysis]
7 Broggi G, Tirrò E, Alzoubi H, Arcella A, Gianno F, Antonelli M, Minasi S, Vigneri P, Certo F, Altieri R, Barbagallo GMV, Miele E, Caltabiano R, Giangaspero F. Cerebellar liponeurocytoma: clinical, histopathological and molecular features of a series of three cases, including one recurrent tumor. Neuropathology 2022. [PMID: 35042275 DOI: 10.1111/neup.12799] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 Fathi A, Mathivanan S, Kong L, Petersen AJ, Harder CRK, Block J, Miller JM, Bhattacharyya A, Wang D, Zhang SC. Chemically induced senescence in human stem cell-derived neurons promotes phenotypic presentation of neurodegeneration. Aging Cell 2022;21:e13541. [PMID: 34953016 DOI: 10.1111/acel.13541] [Reference Citation Analysis]
9 Tremblay MW, Green MV, Goldstein BM, Aldridge AI, Rosenfeld JA, Streff H, Tan WD, Craigen W, Bekheirnia N, Al Tala S, West AE, Jiang YH. Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Hum Mol Genet 2021:ddab321. [PMID: 34788807 DOI: 10.1093/hmg/ddab321] [Reference Citation Analysis]
10 Wilson KD, Porter EG, Garcia BA. Reprogramming of the epigenome in neurodevelopmental disorders. Crit Rev Biochem Mol Biol 2021;:1-40. [PMID: 34601997 DOI: 10.1080/10409238.2021.1979457] [Reference Citation Analysis]
11 Flex E, Imperatore V, Carpentieri G, Bruselles A, Ciolfi A, Pizzi S, Tedesco MG, Rogaia D, Mencarelli A, Di Cara G, Verrotti A, Troiani S, Merla G, Tartaglia M, Prontera P. A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3. Genes (Basel) 2021;12:1406. [PMID: 34573388 DOI: 10.3390/genes12091406] [Reference Citation Analysis]
12 Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum. Genes (Basel) 2021;12:1208. [PMID: 34440382 DOI: 10.3390/genes12081208] [Reference Citation Analysis]
13 Ahmed MSO, Rafey M, McDonnell T, Smith D. HIST1H1E syndrome with type 2 diabetes. BMJ Case Rep 2021;14:e241907. [PMID: 34290007 DOI: 10.1136/bcr-2021-241907] [Reference Citation Analysis]
14 Manuela P, Clementina RF, Simone P, Letizia P, Francesca P, Cecilia M, Viviana C, Emilio A, Corrado M, Bruno D, Marco T. Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype. Genes (Basel) 2021;12:1009. [PMID: 34208845 DOI: 10.3390/genes12071009] [Reference Citation Analysis]
15 Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G. Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. Am J Med Genet A 2021. [PMID: 34159694 DOI: 10.1002/ajmg.a.62399] [Reference Citation Analysis]
16 Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L. Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature. Genes (Basel) 2021;12:950. [PMID: 34206215 DOI: 10.3390/genes12070950] [Reference Citation Analysis]
17 Pavinato L, Nematian-Ardestani E, Zonta A, De Rubeis S, Buxbaum J, Mancini C, Bruselles A, Tartaglia M, Pessia M, Tucker SJ, D'Adamo MC, Brusco A. KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. Int J Mol Sci 2021;22:6064. [PMID: 34199759 DOI: 10.3390/ijms22116064] [Reference Citation Analysis]
18 de Lima Camillo LP, Quinlan RBA. A ride through the epigenetic landscape: aging reversal by reprogramming. Geroscience 2021;43:463-85. [PMID: 33825176 DOI: 10.1007/s11357-021-00358-6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
19 Pavinato L, Trajkova S, Grosso E, Giorgio E, Bruselles A, Radio FC, Pippucci T, Dimartino P, Tartaglia M, Petlichkovski A, De Rubeis S, Buxbaum J, Ferrero GB, Keller R, Brusco A. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. Am J Med Genet A 2021;185:1712-20. [PMID: 33675273 DOI: 10.1002/ajmg.a.62157] [Reference Citation Analysis]
20 Jena SR, Nayak J, Kumar S, Kar S, Dixit A, Samanta L. Paternal contributors in recurrent pregnancy loss: Cues from comparative proteome profiling of seminal extracellular vesicles. Mol Reprod Dev 2021;88:96-112. [PMID: 33345401 DOI: 10.1002/mrd.23445] [Reference Citation Analysis]
21 Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. J Med Genet 2020:jmedgenet-2020-107281. [PMID: 33323470 DOI: 10.1136/jmedgenet-2020-107281] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
22 Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ. A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration. Am J Hum Genet 2020;107:1062-77. [PMID: 33217309 DOI: 10.1016/j.ajhg.2020.11.004] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
23 Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A, Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E; Genomics England Research Consortium. De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment. Am J Hum Genet 2020;107:1129-48. [PMID: 33186545 DOI: 10.1016/j.ajhg.2020.10.012] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 6.5] [Reference Citation Analysis]
24 Zhou BR, Feng H, Kale S, Fox T, Khant H, de Val N, Ghirlando R, Panchenko AR, Bai Y. Distinct Structures and Dynamics of Chromatosomes with Different Human Linker Histone Isoforms. Mol Cell 2021;81:166-182.e6. [PMID: 33238161 DOI: 10.1016/j.molcel.2020.10.038] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 8.5] [Reference Citation Analysis]
25 Schnabel F, Kornak U, Wollnik B. Premature aging disorders: A clinical and genetic compendium. Clin Genet 2021;99:3-28. [PMID: 32860237 DOI: 10.1111/cge.13837] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
26 Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. Am J Hum Genet 2020;107:499-513. [PMID: 32721402 DOI: 10.1016/j.ajhg.2020.06.018] [Cited by in Crossref: 26] [Cited by in F6Publishing: 24] [Article Influence: 13.0] [Reference Citation Analysis]
27 Rigante D, Stellacci E, Leoni C, Onesimo R, Radio FC, Pizzi S, Giorgio V, Tornesello A, Tartaglia M, Zampino G. Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant). Immunology Letters 2020;225:64-5. [DOI: 10.1016/j.imlet.2020.06.012] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 2.5] [Reference Citation Analysis]
28 Benetti E, Tita R, Spiga O, Ciolfi A, Birolo G, Bruselles A, Doddato G, Giliberti A, Marconi C, Musacchia F, Pippucci T, Torella A, Trezza A, Valentino F, Baldassarri M, Brusco A, Asselta R, Bruttini M, Furini S, Seri M, Nigro V, Matullo G, Tartaglia M, Mari F;  GEN-COVID Multicenter Study; Renieri A, Pinto AM. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. Eur J Hum Genet. 2020;28:1602-1614. [PMID: 32681121 DOI: 10.1038/s41431-020-0691-z] [Cited by in Crossref: 79] [Cited by in F6Publishing: 122] [Article Influence: 39.5] [Reference Citation Analysis]
29 Alzoubi H, Gianno F, Giangaspero F, Bartolini D, Riccioni L, Miele E, Antonelli M. Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis. CNS Oncol 2020;9:CNS54. [PMID: 32602741 DOI: 10.2217/cns-2020-0006] [Reference Citation Analysis]
30 Miele E, De Vito R, Ciolfi A, Pedace L, Russo I, De Pasquale MD, Di Giannatale A, Crocoli A, Angelis B, Tartaglia M, Alaggio R, Milano GM. DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) Alterations. Int J Mol Sci 2020;21:E1818. [PMID: 32155762 DOI: 10.3390/ijms21051818] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 5.0] [Reference Citation Analysis]
31 Ciolfi A, Aref-Eshghi E, Pizzi S, Pedace L, Miele E, Kerkhof J, Flex E, Martinelli S, Radio FC, Ruivenkamp CAL, Santen GWE, Bijlsma E, Barge-Schaapveld D, Ounap K, Siu VM, Kooy RF, Dallapiccola B, Sadikovic B, Tartaglia M. Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature. Clin Epigenetics 2020;12:7. [PMID: 31910894 DOI: 10.1186/s13148-019-0804-0] [Cited by in Crossref: 15] [Cited by in F6Publishing: 17] [Article Influence: 7.5] [Reference Citation Analysis]
32 [DOI: 10.1101/2020.04.03.20047977] [Cited by in Crossref: 22] [Cited by in F6Publishing: 7] [Reference Citation Analysis]