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For: Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects. Hum Mol Genet 2019;28:R254-64. [PMID: 31595951 DOI: 10.1093/hmg/ddz174] [Cited by in Crossref: 26] [Cited by in F6Publishing: 33] [Article Influence: 13.0] [Reference Citation Analysis]
Number Citing Articles
1 Di Fede E, Grazioli P, Lettieri A, Parodi C, Castiglioni S, Taci E, Colombo EA, Ancona S, Priori A, Gervasini C, Massa V. Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies. Front Cell Dev Biol 2022;10:979512. [DOI: 10.3389/fcell.2022.979512] [Reference Citation Analysis]
2 Ng R, Harris J, Fahrner JA, Bjornsson HT. Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing. J Int Neuropsychol Soc 2022;:1-7. [PMID: 36062544 DOI: 10.1017/S1355617722000467] [Reference Citation Analysis]
3 Bukowska-Olech E, Sowińska-Seidler A, Wierzba J, Jamsheer A. SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably. Orphanet J Rare Dis 2022;17:325. [PMID: 36028842 DOI: 10.1186/s13023-022-02480-w] [Reference Citation Analysis]
4 Rapp T, Kalinousky AJ, Johnson J, Bjornsson H, Harris J. Sleep disturbance is a common feature of Kabuki syndrome. Am J Med Genet A 2022. [PMID: 35930004 DOI: 10.1002/ajmg.a.62921] [Reference Citation Analysis]
5 Aleo S, Pezzani L, Milani D, Pezzoli L, Marchisio P, Iascone M. SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel. Mol Syndromol. [DOI: 10.1159/000524844] [Reference Citation Analysis]
6 Montano C, Britton JF, Harris JR, Kerkhof J, Barnes BT, Lee JA, Sadikovic B, Sobreira N, Fahrner JA. Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1. Am J Med Genet A 2022. [PMID: 35384273 DOI: 10.1002/ajmg.a.62754] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
7 Nothof SA, Magdinier F, Van-gils J. Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication. Genes 2022;13:639. [DOI: 10.3390/genes13040639] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, Colombo EA, Ancona S, Milani D, Ottaviano E, Borghi E, Massa V, Ghelma F, Vignoli A, Lesma E, Gervasini C. KMT2A: Umbrella Gene for Multiple Diseases. Genes 2022;13:514. [DOI: 10.3390/genes13030514] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
9 Han ST, Kim AC, Garcia K, Schimmenti LA, Macnamara E, Network UD, Gahl WA, Malicadan MC, Tifft CJ. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. Molecular Genetics and Metabolism 2022. [DOI: 10.1016/j.ymgme.2022.01.103] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Zug R. Developmental disorders caused by haploinsufficiency of transcriptional regulators: a perspective based on cell fate determination. Biol Open 2022;11:bio058896. [PMID: 35089335 DOI: 10.1242/bio.058896] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
11 Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med 2021;6:104. [PMID: 34876591 DOI: 10.1038/s41525-021-00268-8] [Reference Citation Analysis]
12 MacDonald JL, Tharin S, Hall SE. Epigenetic regulation of nervous system development and function. Neurochem Int 2022;152:105249. [PMID: 34826529 DOI: 10.1016/j.neuint.2021.105249] [Reference Citation Analysis]
13 Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, Kerkhof J, Mignot C, Nougues MC, Keren B, Moore HW, Oegema R, Giltay JC, Simon M, van Jaarsveld RH, Bos J, van Haelst M, Motazacker MM, Boon EMJ, Santen GWE, Ruivenkamp CAL, Alders M, Luperchio TR, Boukas L, Ramsey K, Narayanan V, Schaefer GB, Bonasio R, Doheny KF, Stevenson RE, Banka S, Sadikovic B, Fahrner JA. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. NPJ Genom Med 2021;6:92. [PMID: 34750377 DOI: 10.1038/s41525-021-00256-y] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
14 Ernst C, Jefri M. Epigenetic priming in neurodevelopmental disorders. Trends Mol Med 2021;27:1106-14. [PMID: 34690045 DOI: 10.1016/j.molmed.2021.09.005] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
15 Luperchio TR, Boukas L, Zhang L, Pilarowski G, Jiang J, Kalinousky A, Hansen KD, Bjornsson HT. Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation. Elife 2021;10:e65884. [PMID: 34463256 DOI: 10.7554/eLife.65884] [Reference Citation Analysis]
16 Gervasini C, Garcia-Dominguez M, Massa V. Editorial: Impact on Embryonic Development of Chromatin Remodeling Alterations. Front Cell Dev Biol 2021;9:744665. [PMID: 34458279 DOI: 10.3389/fcell.2021.744665] [Reference Citation Analysis]
17 Ciptasari U, van Bokhoven H. The phenomenal epigenome in neurodevelopmental disorders. Hum Mol Genet 2020;29:R42-50. [PMID: 32766754 DOI: 10.1093/hmg/ddaa175] [Cited by in Crossref: 4] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
18 Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM. Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome. Mol Genet Genomic Med 2021;9:e1791. [PMID: 34427995 DOI: 10.1002/mgg3.1791] [Cited by in F6Publishing: 3] [Reference Citation Analysis]
19 Leo L, Colonna Romano N. Emerging Single-Cell Technological Approaches to Investigate Chromatin Dynamics and Centromere Regulation in Human Health and Disease. Int J Mol Sci 2021;22:8809. [PMID: 34445507 DOI: 10.3390/ijms22168809] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
20 Chater-Diehl E, Goodman SJ, Cytrynbaum C, Turinsky AL, Choufani S, Weksberg R. Anatomy of DNA methylation signatures: Emerging insights and applications. Am J Hum Genet 2021;108:1359-66. [PMID: 34297908 DOI: 10.1016/j.ajhg.2021.06.015] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 12.0] [Reference Citation Analysis]
21 Smith C, Harris J. Sleep, Behavior, and Adaptive Function in KAT6A Syndrome. Brain Sci 2021;11:966. [PMID: 34439586 DOI: 10.3390/brainsci11080966] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
22 Baribeau D, Anagnostou E. Novel treatments for autism spectrum disorder based on genomics and systems biology. Pharmacol Ther 2021;:107939. [PMID: 34174273 DOI: 10.1016/j.pharmthera.2021.107939] [Cited by in Crossref: 1] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
23 Van Gils J, Magdinier F, Fergelot P, Lacombe D. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder. Genes (Basel) 2021;12:968. [PMID: 34202860 DOI: 10.3390/genes12070968] [Cited by in F6Publishing: 8] [Reference Citation Analysis]
24 Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet 2021;108:1053-68. [PMID: 33909990 DOI: 10.1016/j.ajhg.2021.04.008] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 8.0] [Reference Citation Analysis]
25 Alari V, Scalmani P, Ajmone PF, Perego S, Avignone S, Catusi I, Lonati PA, Borghi MO, Finelli P, Terragni B, Mantegazza M, Russo S, Larizza L. Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients. Int J Mol Sci 2021;22:5777. [PMID: 34071322 DOI: 10.3390/ijms22115777] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
26 Marballi K, MacDonald JL. Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome. Neurochem Int 2021;148:105076. [PMID: 34048843 DOI: 10.1016/j.neuint.2021.105076] [Cited by in Crossref: 1] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
27 Parodi C, Di Fede E, Peron A, Viganò I, Grazioli P, Castiglioni S, Finnell RH, Gervasini C, Vignoli A, Massa V. Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies. Front Cell Dev Biol 2021;9:654467. [PMID: 33959609 DOI: 10.3389/fcell.2021.654467] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
28 Mossink B, Negwer M, Schubert D, Nadif Kasri N. The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective. Cell Mol Life Sci 2021;78:2517-63. [PMID: 33263776 DOI: 10.1007/s00018-020-03714-5] [Cited by in Crossref: 7] [Cited by in F6Publishing: 18] [Article Influence: 3.5] [Reference Citation Analysis]
29 Boukas L, Bjornsson HT, Hansen KD. Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance. Am J Hum Genet 2020;107:487-98. [PMID: 32800095 DOI: 10.1016/j.ajhg.2020.07.014] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
30 Aleo S, Cinnante C, Avignone S, Prada E, Scuvera G, Ajmone PF, Selicorni A, Costantino MA, Triulzi F, Marchisio P, Gervasini C, Milani D. Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery. Front Cell Dev Biol 2020;8:710. [PMID: 32850830 DOI: 10.3389/fcell.2020.00710] [Reference Citation Analysis]
31 Crippa M, Bestetti I, Maitz S, Weiss K, Spano A, Masciadri M, Smithson S, Larizza L, Low K, Cohen L, Finelli P. SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome. Front Neurol 2020;11:631. [PMID: 32793091 DOI: 10.3389/fneur.2020.00631] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
32 Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. Eur J Hum Genet 2021;29:88-98. [PMID: 32641752 DOI: 10.1038/s41431-020-0679-8] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
33 Calzari L, Barcella M, Alari V, Braga D, Muñoz-Viana R, Barlassina C, Finelli P, Gervasini C, Barco A, Russo S, Larizza L. Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation. Mol Neurobiol 2020;57:3685-701. [PMID: 32562237 DOI: 10.1007/s12035-020-01983-6] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 2.5] [Reference Citation Analysis]
34 Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. DNA Methylation in the Diagnosis of Monogenic Diseases. Genes (Basel) 2020;11:E355. [PMID: 32224912 DOI: 10.3390/genes11040355] [Cited by in Crossref: 13] [Cited by in F6Publishing: 16] [Article Influence: 6.5] [Reference Citation Analysis]