A citation-based method for searching scientific literature

Jill A Fahrner, Hans T Bjornsson. Hum Mol Genet 2019
Times Cited: 31







List of co-cited articles
249 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.
Jill A Fahrner, Hans T Bjornsson. Annu Rev Genomics Hum Genet 2014
62
29

The Mendelian disorders of the epigenetic machinery.
Hans Tomas Bjornsson. Genome Res 2015
84
29

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Erfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L Hood, Dennis E Bulman, Kristin D Kernohan,[...]. Am J Hum Genet 2018
75
22


Rubinstein-Taybi syndrome.
Raoul C M Hennekam. Eur J Hum Genet 2006
192
22

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christèle Dubourg,[...]. Am J Hum Genet 2020
65
22

Lysine acetyltransferases CBP and p300 as therapeutic targets in cognitive and neurodegenerative disorders.
Luis M Valor, Jose Viosca, Jose P Lopez-Atalaya, Angel Barco. Curr Pharm Des 2013
95
19

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Valentina Alari, Silvia Russo, Benedetta Terragni, Paola Francesca Ajmone, Alessandra Sironi, Ilaria Catusi, Luciano Calzari, Daniela Concolino, Rosa Marotta, Donatella Milani,[...]. Stem Cell Res 2018
12
50

Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.
Juan M Alarcón, Gaël Malleret, Khalid Touzani, Svetlana Vronskaya, Shunsuke Ishii, Eric R Kandel, Angel Barco. Neuron 2004
654
19

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.
Paola F Ajmone, Sabrina Avignone, Cristina Gervasini, Antonella Giacobbe, Fedrico Monti, Antonella Costantino, Susanna Esposito, Paola Marchisio, Fabio Triulzi, Donatella Milani. Am J Med Genet B Neuropsychiatr Genet 2018
14
42

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, Michelle T Siu, Michal Inbar-Feigenberg, Roberto Mendoza-Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu,[...]. Am J Hum Genet 2017
98
16

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, Laila C Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C S Nagamani, Sau Wai Cheung, Philippe M Campeau, Chitra Prasad,[...]. Nat Commun 2018
49
16

NSD1 mutations generate a genome-wide DNA methylation signature.
S Choufani, C Cytrynbaum, B H Y Chung, A L Turinsky, D Grafodatskaya, Y A Chen, A S A Cohen, L Dupuis, D T Butcher, M T Siu,[...]. Nat Commun 2015
96
16

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Patricia Fergelot, Martine Van Belzen, Julien Van Gils, Alexandra Afenjar, Christine M Armour, Benoit Arveiler, Lex Beets, Lydie Burglen, Tiffany Busa, Marie Collet,[...]. Am J Med Genet A 2016
61
16

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Gloria Negri, Pamela Magini, Donatella Milani, Milena Crippa, Elisa Biamino, Maria Piccione, Stefano Sotgiu, Chiara Perrìa, Giuseppina Vitiello, Marina Frontali,[...]. Hum Genet 2019
18
27

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Nara Sobreira, Martha Brucato, Li Zhang, Christine Ladd-Acosta, Chrissie Ongaco, Jane Romm, Kimberly F Doheny, Regina C Mingroni-Netto, Debora Bertola, Chong A Kim,[...]. Eur J Hum Genet 2017
35
16

Coexpression patterns define epigenetic regulators associated with neurological dysfunction.
Leandros Boukas, James M Havrilla, Peter F Hickey, Aaron R Quinlan, Hans T Bjornsson, Kasper D Hansen. Genome Res 2019
19
26

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
16

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Sanaa Choufani, William T Gibson, Andrei L Turinsky, Brian H Y Chung, Tianren Wang, Kopal Garg, Alessandro Vitriolo, Ana S A Cohen, Sharri Cyrus, Sarah Goodman,[...]. Am J Hum Genet 2020
27
18

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A Levy,[...]. Am J Hum Genet 2019
60
16

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.
Luciano Calzari, Matteo Barcella, Valentina Alari, Daniele Braga, Rafael Muñoz-Viana, Cristina Barlassina, Palma Finelli, Cristina Gervasini, Angel Barco, Silvia Russo,[...]. Mol Neurobiol 2020
8
62

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Eric G Bend, Erfan Aref-Eshghi, David B Everman, R Curtis Rogers, Sara S Cathey, Eloise J Prijoles, Michael J Lyons, Heather Davis, Katie Clarkson, Karen W Gripp,[...]. Clin Epigenetics 2019
32
12

CBP histone acetyltransferase activity is a critical component of memory consolidation.
Edward Korzus, Michael G Rosenfeld, Mark Mayford. Neuron 2004
592
12

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells.
Ping Wang, Ryan Mokhtari, Erika Pedrosa, Michael Kirschenbaum, Can Bayrak, Deyou Zheng, Herbert M Lachman. Mol Autism 2017
144
12

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
J P Lopez-Atalaya, C Gervasini, F Mottadelli, S Spena, M Piccione, G Scarano, A Selicorni, A Barco, L Larizza. J Med Genet 2012
53
12

Epigenetic Etiology of Intellectual Disability.
Shigeki Iwase, Nathalie G Bérubé, Zhaolan Zhou, Nael Nadif Kasri, Elena Battaglioli, Marilyn Scandaglia, Angel Barco. J Neurosci 2017
50
12

CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain.
Jing Wang, Ian C G Weaver, Andrée Gauthier-Fisher, Haoran Wang, Ling He, John Yeomans, Frederic Wondisford, David R Kaplan, Freda D Miller. Dev Cell 2010
128
12

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
S Spena, D Milani, D Rusconi, G Negri, P Colapietro, N Elcioglu, F Bedeschi, A Pilotta, L Spaccini, A Ficcadenti,[...]. Clin Genet 2015
35
12

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
12

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.
Hans T Bjornsson, Joel S Benjamin, Li Zhang, Jacqueline Weissman, Elizabeth E Gerber, Yi-Chun Chen, Rebecca G Vaurio, Michelle C Potter, Kasper D Hansen, Harry C Dietz. Sci Transl Med 2014
100
12

The molecular hallmarks of epigenetic control.
C David Allis, Thomas Jenuwein. Nat Rev Genet 2016
12

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
Laila C Schenkel, Kristin D Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner,[...]. Epigenetics Chromatin 2017
37
9

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic. Epigenetics 2017
42
9

Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders.
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Siu, David Rodenhiser, Charles Schwartz, Bekim Sadikovic. J Mol Diagn 2017
25
12

The defining DNA methylation signature of Floating-Harbor Syndrome.
Rebecca L Hood, Laila C Schenkel, Sarah M Nikkel, Peter J Ainsworth, Guillaume Pare, Kym M Boycott, Dennis E Bulman, Bekim Sadikovic. Sci Rep 2016
39
9

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.
Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I Rodenhiser, Charles Schwartz, Bekim Sadikovic. Clin Epigenetics 2018
37
9

DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype.
Bekim Sadikovic, Erfan Aref-Eshghi, Michael A Levy, David Rodenhiser. Epigenomics 2019
21
14

CBP and SRF co-regulate dendritic growth and synaptic maturation.
Beatriz Del Blanco, Deisy Guiretti, Romana Tomasoni, María T Lopez-Cascales, Rafael Muñoz-Viana, Michal Lipinski, Marilyn Scandaglia, Yaiza Coca, Román Olivares, Luis M Valor,[...]. Cell Death Differ 2019
18
16

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Angela Bentivegna, Donatella Milani, Cristina Gervasini, Paola Castronovo, Federica Mottadelli, Stefano Manzini, Patrizia Colapietro, Lucio Giordano, Francesca Atzeri, Maria T Divizia,[...]. BMC Med Genet 2006
53
9


FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders.
Jessica Mariani, Gianfilippo Coppola, Ping Zhang, Alexej Abyzov, Lauren Provini, Livia Tomasini, Mariangela Amenduni, Anna Szekely, Dean Palejev, Michael Wilson,[...]. Cell 2015
597
9


Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.
Valentina Alari, Silvia Russo, Davide Rovina, Maria Garzo, Milena Crippa, Luciano Calzari, Claudia Scalera, Daniela Concolino, Elisa Castiglioni, Daniela Giardino,[...]. Stem Cell Res 2019
5
60

Time-Resolved Analysis Reveals Rapid Dynamics and Broad Scope of the CBP/p300 Acetylome.
Brian T Weinert, Takeo Narita, Shankha Satpathy, Balaji Srinivasan, Bogi K Hansen, Christian Schölz, William B Hamilton, Beth E Zucconi, Wesley W Wang, Wenshe R Liu,[...]. Cell 2018
151
9

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Bo Yuan, Davut Pehlivan, Ender Karaca, Nisha Patel, Wu-Lin Charng, Tomasz Gambin, Claudia Gonzaga-Jauregui, V Reid Sutton, Gozde Yesil, Sevcan Tug Bozdogan,[...]. J Clin Invest 2015
107
9

The genetics of cognitive epigenetics.
Tjitske Kleefstra, Annette Schenck, Jamie M Kramer, Hans van Bokhoven. Neuropharmacology 2014
57
9

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Ilaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, Sara Ruiz Gil, Ingrid Bader, Diana Braunholz, Nuria C Bramswig, Cristina Gervasini, Lidia Larizza, Lutz Pfeiffer,[...]. Hum Genet 2017
43
9


Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
F Petrij, R H Giles, H G Dauwerse, J J Saris, R C Hennekam, M Masuno, N Tommerup, G J van Ommen, R H Goodman, D J Peters. Nature 1995
895
9

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.
Monica Frega, Martijn Selten, Britt Mossink, Jason M Keller, Katrin Linda, Rebecca Moerschen, Jieqiong Qu, Pierre Koerner, Sophie Jansen, Astrid Oudakker,[...]. Cell Rep 2020
20
15


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.