A citation-based method for searching scientific literature

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, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert-Dussardier, Alain Verloes, Frederic Bilan, Jeff M Milunsky, Raveen Basran, Blake Papsin, Tracy L Stockley, Stephen W Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg. Am J Hum Genet 2017
Times Cited: 91







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



Times Cited
  Times     Co-cited
Similarity


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
91
46

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
69
39

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
863
25

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
39
56

The Mendelian disorders of the epigenetic machinery.
Hans Tomas Bjornsson. Genome Res 2015
82
25

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
Kristin D Kernohan, Laila Cigana Schenkel, Lijia Huang, Amanda Smith, Guillaume Pare, Peter Ainsworth, Kym M Boycott, Jodi Warman-Chardon, Bekim Sadikovic. Clin Epigenetics 2016
45
46

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
37
56

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
42

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
21

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
33
60

Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays.
Martin J Aryee, Andrew E Jaffe, Hector Corrada-Bravo, Christine Ladd-Acosta, Andrew P Feinberg, Kasper D Hansen, Rafael A Irizarry. Bioinformatics 2014
19

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
33
54

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
55
32

DNA methylation arrays as surrogate measures of cell mixture distribution.
Eugene Andres Houseman, William P Accomando, Devin C Koestler, Brock C Christensen, Carmen J Marsit, Heather H Nelson, John K Wiencke, Karl T Kelsey. BMC Bioinformatics 2012
18

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
35
48

CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Yvonne Schulz, Luisa Freese, Johanna Mänz, Barbara Zoll, Christiane Völter, Knut Brockmann, Nina Bögershausen, Jutta Becker, Bernd Wollnik, Silke Pauli. Hum Mol Genet 2014
38
42

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel,[...]. Nat Genet 2004
779
15

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
M T Siu, D T Butcher, A L Turinsky, C Cytrynbaum, D J Stavropoulos, S Walker, O Caluseriu, M Carter, Y Lou, R Nicolson,[...]. Clin Epigenetics 2019
28
50

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
24
58

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H Elcioglu, Dagmar Wieczorek,[...]. Hum Mutat 2016
80
16

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.
Jill A Fahrner, Hans T Bjornsson. Annu Rev Genomics Hum Genet 2014
60
21

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
24
54

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
Damien Lederer, Bernard Grisart, Maria Cristina Digilio, Valérie Benoit, Marianne Crespin, Sophie Claire Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen-Dumoulin. Am J Hum Genet 2012
225
14

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Daria Grafodatskaya, Barian H Y Chung, Darci T Butcher, Andrei L Turinsky, Sarah J Goodman, Sana Choufani, Yi-An Chen, Youliang Lou, Chunhua Zhao, Rageen Rajendram,[...]. BMC Med Genomics 2013
56
23

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
58
22

limma powers differential expression analyses for RNA-sequencing and microarray studies.
Matthew E Ritchie, Belinda Phipson, Di Wu, Yifang Hu, Charity W Law, Wei Shi, Gordon K Smyth. Nucleic Acids Res 2015
13


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
31
38

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array.
Laila C Schenkel, Charles Schwartz, Cindy Skinner, David I Rodenhiser, Peter J Ainsworth, Guillaume Pare, Bekim Sadikovic. J Mol Diagn 2016
21
52

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns.
Michael P Schnetz, Cynthia F Bartels, Kuntal Shastri, Dheepa Balasubramanian, Gabriel E Zentner, Ravishankar Balaji, Xiaodong Zhang, Lingyun Song, Zhenghe Wang, Thomas Laframboise,[...]. Genome Res 2009
174
12

CHD7 cooperates with PBAF to control multipotent neural crest formation.
Ruchi Bajpai, Denise A Chen, Alvaro Rada-Iglesias, Junmei Zhang, Yiqin Xiong, Jill Helms, Ching-Pin Chang, Yingming Zhao, Tomek Swigut, Joanna Wysocka. Nature 2010
385
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
96
12

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.
Emma Strong, Darci T Butcher, Rajat Singhania, Carolyn B Mervis, Colleen A Morris, Daniel De Carvalho, Rosanna Weksberg, Lucy R Osborne. Am J Hum Genet 2015
43
25


KDM6A point mutations cause Kabuki syndrome.
Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, Hirofumi Ohashi, Masaaki Shiina, Kazuhiro Ogata, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Norio Niikawa,[...]. Hum Mutat 2013
120
10

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael J Parker, Yanick J Crow, Bronwyn Kerr, Helen Kingston,[...]. Eur J Hum Genet 2012
103
10

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies.
Andrew E Jaffe, Peter Murakami, Hwajin Lee, Jeffrey T Leek, M Daniele Fallin, Andrew P Feinberg, Rafael A Irizarry. Int J Epidemiol 2012
376
9


Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Katrina Tatton-Brown, Chey Loveday, Shawn Yost, Matthew Clarke, Emma Ramsay, Anna Zachariou, Anna Elliott, Harriet Wylie, Anna Ardissone, Olaf Rittinger,[...]. Am J Hum Genet 2017
91
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
18
50

A genome-wide DNA methylation signature for SETD1B-related syndrome.
I M Krzyzewska, S M Maas, P Henneman, K V D Lip, A Venema, K Baranano, A Chassevent, E Aref-Eshghi, A J van Essen, T Fukuda,[...]. Clin Epigenetics 2019
21
42


CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression.
Michael P Schnetz, Lusy Handoko, Batool Akhtar-Zaidi, Cynthia F Bartels, C Filipe Pereira, Amanda G Fisher, David J Adams, Paul Flicek, Gregory E Crawford, Thomas Laframboise,[...]. PLoS Genet 2010
178
8


Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Maria Lisa Dentici, Alessandra Di Pede, Francesca Romana Lepri, Maria Gnazzo, Mary Haywood Lombardi, Cinzia Auriti, Stefano Petrocchi, Elisa Pisaneschi, Emanuele Bellacchio, Rossella Capolino,[...]. Arch Dis Child 2015
51
15

Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility.
Lovisa E Reinius, Nathalie Acevedo, Maaike Joerink, Göran Pershagen, Sven-Erik Dahlén, Dario Greco, Cilla Söderhäll, Annika Scheynius, Juha Kere. PLoS One 2012
650
8

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Katrina Tatton-Brown, Sheila Seal, Elise Ruark, Jenny Harmer, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Sandra Hanks, Eleanor O'Brien, Lise Aksglaede,[...]. Nat Genet 2014
176
8

Haploinsufficiency of NSD1 causes Sotos syndrome.
Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada, Mitsuo Masuno, Tatsuro Kondoh, Toshiro Nagai, Hirofumi Ohashi, Kenji Naritomi, Masato Tsukahara, Yoshio Makita,[...]. Nat Genet 2002
390
8

Identification of rare de novo epigenetic variations in congenital disorders.
Mafalda Barbosa, Ricky S Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau,[...]. Nat Commun 2018
42
19

Unmasking Kabuki syndrome.
N Bögershausen, B Wollnik. Clin Genet 2013
92
7


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.