A citation-based method for searching scientific literature

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, Kym M Boycott, Philippe M Campeau, Charles Schwartz, Bekim Sadikovic. Am J Hum Genet 2018
Times Cited: 72







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



Times Cited
  Times     Co-cited
Similarity


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
58
56

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
41
73

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
36
80

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
93
38

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
93
38

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
57

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
61
37

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
30

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
27

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
38
50

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
61

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
40

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
72

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
25

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
51

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
23

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
22
72

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
71

The Mendelian disorders of the epigenetic machinery.
Hans Tomas Bjornsson. Genome Res 2015
82
19

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
43
30

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
57
21

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
34

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Andrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia A L Ruivenkamp,[...]. Clin Epigenetics 2020
24
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
50

De novo identification of differentially methylated regions in the human genome.
Timothy J Peters, Michael J Buckley, Aaron L Statham, Ruth Pidsley, Katherine Samaras, Reginald V Lord, Susan J Clark, Peter L Molloy. Epigenetics Chromatin 2015
412
15

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
44
25

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
23
47

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.
Jill A Fahrner, Hans T Bjornsson. Annu Rev Genomics Hum Genet 2014
61
16

Genomic DNA Methylation-Derived Algorithm Enables Accurate Detection of Malignant Prostate Tissues.
Erfan Aref-Eshghi, Laila C Schenkel, Peter Ainsworth, Hanxin Lin, David I Rodenhiser, Jean-Claude Cutz, Bekim Sadikovic. Front Oncol 2018
23
43

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
866
13

Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
Erfan Aref-Eshghi, Danielle K Bourque, Jennifer Kerkhof, Deanna Alexis Carere, Peter Ainsworth, Bekim Sadikovic, Christine M Armour, Hanxin Lin. Hum Mutat 2019
14
71

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
655
12



Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Alan Stuart, Haley McConkey, Peter Henneman, Andrea Venema, Charles E Schwartz,[...]. Genet Med 2021
23
39

DNA methylation analysis in constitutional disorders: Clinical implications of the epigenome.
Laila C Schenkel, David I Rodenhiser, Peter J Ainsworth, Guillaume Paré, Bekim Sadikovic. Crit Rev Clin Lab Sci 2016
17
47

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
228
11

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
28

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
393
9

Intragenic DNA methylation prevents spurious transcription initiation.
Francesco Neri, Stefania Rapelli, Anna Krepelova, Danny Incarnato, Caterina Parlato, Giulia Basile, Mara Maldotti, Francesca Anselmi, Salvatore Oliviero. Nature 2017
320
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

Identification of a DNA methylation signature in blood cells from persons with Down Syndrome.
Maria Giulia Bacalini, Davide Gentilini, Alessio Boattini, Enrico Giampieri, Chiara Pirazzini, Cristina Giuliani, Elisa Fontanesi, Maria Scurti, Daniel Remondini, Miriam Capri,[...]. Aging (Albany NY) 2015
64
10

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
704
9


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
383
8

Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation.
Tuncay Baubec, Daniele F Colombo, Christiane Wirbelauer, Juliane Schmidt, Lukas Burger, Arnaud R Krebs, Altuna Akalin, Dirk Schübeler. Nature 2015
368
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
178
8

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
R S Hansen, C Wijmenga, P Luo, A M Stanek, T K Canfield, C M Weemaes, S M Gartler. Proc Natl Acad Sci U S A 1999
529
8

Genome-wide methylation analysis in Silver-Russell syndrome patients.
A R Prickett, M Ishida, S Böhm, J M Frost, W Puszyk, S Abu-Amero, P Stanier, R Schulz, G E Moore, R J Oakey. Hum Genet 2015
19
31

Genetic syndromes caused by mutations in epigenetic genes.
María Berdasco, Manel Esteller. Hum Genet 2013
97
8


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.