A citation-based method for searching scientific literature


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



Times Cited
  Times     Co-cited
Similarity


The Mendelian disorders of the epigenetic machinery.
Hans Tomas Bjornsson. Genome Res 2015
72
38

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
23


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
93
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
8
50

Rubinstein-Taybi syndrome.
Raoul C M Hennekam. Eur J Hum Genet 2006
177
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
9
44


Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Sarah B Ng, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Margaret J McMillin, Heidi I Gildersleeve, Anita E Beck, Holly K Tabor, Gregory M Cooper, Heather C Mefford,[...]. Nat Genet 2010
832
14

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
883
14

De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Wendy D Jones, Dimitra Dafou, Meriel McEntagart, Wesley J Woollard, Frances V Elmslie, Muriel Holder-Espinasse, Melita Irving, Anand K Saggar, Sarah Smithson, Richard C Trembath,[...]. Am J Hum Genet 2012
139
14

The genetics of cognitive epigenetics.
Tjitske Kleefstra, Annette Schenck, Jamie M Kramer, Hans van Bokhoven. Neuropharmacology 2014
53
14

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.
Jill A Fahrner, Hans T Bjornsson. Annu Rev Genomics Hum Genet 2014
51
14

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
13
23

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Víctor Faundes, William G Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Bruno Dallapiccola, Sally J Davies, Michelle K Demos, Amy Goldman, Harinder Gill,[...]. Am J Hum Genet 2018
77
14

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
14

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Gloria Negri, Pamela Magini, Donatella Milani, Patrizia Colapietro, Daniela Rusconi, Emanuela Scarano, Maria Teresa Bonati, Manuela Priolo, Milena Crippa, Laura Mazzanti,[...]. Hum Mutat 2016
26
14

CBP histone acetyltransferase activity is a critical component of memory consolidation.
Edward Korzus, Michael G Rosenfeld, Mark Mayford. Neuron 2004
575
14

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
49
14

Target gene context influences the transcriptional requirement for the KAT3 family of CBP and p300 histone acetyltransferases.
David C Bedford, Lawryn H Kasper, Tomofusa Fukuyama, Paul K Brindle. Epigenetics 2010
188
14


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
52
14

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
50
14


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
105
14

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
641
14

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
31
14

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
4
75


Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
David A Koolen, Jamie M Kramer, Kornelia Neveling, Willy M Nillesen, Heather L Moore-Barton, Frances V Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun-Hui Tsai,[...]. Nat Genet 2012
129
9

Identifying facial phenotypes of genetic disorders using deep learning.
Yaron Gurovich, Yair Hanani, Omri Bar, Guy Nadav, Nicole Fleischer, Dekel Gelbman, Lina Basel-Salmon, Peter M Krawitz, Susanne B Kamphausen, Martin Zenker,[...]. Nat Med 2019
129
9

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
589
9

The developmental transcriptome of the human brain: implications for neurodevelopmental disorders.
Andrew T N Tebbenkamp, A Jeremy Willsey, Matthew W State, Nenad Sestan. Curr Opin Neurol 2014
64
9

STAR: ultrafast universal RNA-seq aligner.
Alexander Dobin, Carrie A Davis, Felix Schlesinger, Jorg Drenkow, Chris Zaleski, Sonali Jha, Philippe Batut, Mark Chaisson, Thomas R Gingeras. Bioinformatics 2013
9


Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2.
Michael I Love, Wolfgang Huber, Simon Anders. Genome Biol 2014
9

Clinical and genetic aspects of KBG syndrome.
Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton-Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer,[...]. Am J Med Genet A 2016
35
9

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Asli Sirmaci, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk,[...]. Am J Hum Genet 2011
139
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
13
15

Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
Siddharth Banka, Rebecca Sayer, Catherine Breen, Stephanie Barton, Julija Pavaine, Sarah E Sheppard, Emma Bedoukian, Cara Skraban, Vishnu A Cuddapah, Jill Clayton-Smith. Am J Med Genet A 2019
10
20

VarSome: the human genomic variant search engine.
Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, Andreas Massouras. Bioinformatics 2019
342
9

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Leonie A Menke, Martine J van Belzen, Marielle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H Gerkes, Mariëtte J V Hoffer, Denise Horn,[...]. Am J Med Genet A 2016
20
10

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Nuria C Bramswig, Hermann-Josef Lüdecke, Yasemin Alanay, Beate Albrecht, Alexander Barthelmie, Koray Boduroglu, Diana Braunholz, Almuth Caliebe, Krystyna H Chrzanowska, Johanna Christina Czeschik,[...]. Hum Genet 2015
41
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
32
9

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Leonie A Menke, Thatjana Gardeitchik, Peter Hammond, Ketil R Heimdal, Gunnar Houge, Sophia B Hufnagel, Jianling Ji, Stefan Johansson, Sarina G Kant, Esther Kinning,[...]. Am J Med Genet A 2018
18
11

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
11
18

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
15
13

NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.
Jason A Mills, Pamela S Herrera, Maninder Kaur, Lanfranco Leo, Deborah McEldrew, Jesus A Tintos-Hernandez, Ramakrishnan Rajagopalan, Alyssa Gagne, Zhe Zhang, Xilma R Ortiz-Gonzalez,[...]. Sci Rep 2018
15
13


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.