A citation-based method for searching scientific literature

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, H Ikeda, M Jacquemont, H-G Kim, A Labalme, S M E Lewis, G Lesca, I Madrigal, S Mahida, N Matsumoto, R Rabionet, E Rajcan-Separovic, Y Qiao, B Sadikovic, H Saitsu, D A Sweetser, M Alders, M M A M Mannens. Clin Epigenetics 2019
Times Cited: 21







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



Times Cited
  Times     Co-cited
Similarity


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
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
58
57

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
52

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
52

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
52

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
47

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
42

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
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
91
42

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
42

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
38

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
38

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
33

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
33

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
33

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
28

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
11
45

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

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

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
23

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

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
23

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J Low, Cristina Dias, Markéta Havlovicová,[...]. Genet Med 2020
11
45

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

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
19

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

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
Takuya Hiraide, Mitsuko Nakashima, Kaori Yamoto, Tokiko Fukuda, Mitsuhiro Kato, Hiroko Ikeda, Yoko Sugie, Kazushi Aoto, Tadashi Kaname, Kazuhiko Nakabayashi,[...]. Hum Genet 2018
32
19

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.
Takuya Hiraide, Ayako Hattori, Daisuke Ieda, Ikumi Hori, Shinji Saitoh, Mitsuko Nakashima, Hirotomo Saitsu. Epilepsia Open 2019
10
40

Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex.
Jeong-Heon Lee, Courtney M Tate, Jin-Sam You, David G Skalnik. J Biol Chem 2007
167
19

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Tarjinder Singh, Mitja I Kurki, David Curtis, Shaun M Purcell, Lucy Crooks, Jeremy McRae, Jaana Suvisaari, Himanshu Chheda, Douglas Blackwood, Gerome Breen,[...]. Nat Neurosci 2016
234
19

Mutations in EZH2 cause Weaver syndrome.
William T Gibson, Rebecca L Hood, Shing Hei Zhan, Dennis E Bulman, Anthony P Fejes, Richard Moore, Andrew J Mungall, Patrice Eydoux, Riyana Babul-Hirji, Jianghong An,[...]. Am J Hum Genet 2012
160
19

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
63
19

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
23


Genetics meets DNA methylation in rare diseases.
Guillaume Velasco, Claire Francastel. Clin Genet 2019
20
15

Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1.
Daniel E Martin-Herranz, Erfan Aref-Eshghi, Marc Jan Bonder, Thomas M Stubbs, Sanaa Choufani, Rosanna Weksberg, Oliver Stegle, Bekim Sadikovic, Wolf Reik, Janet M Thornton. Genome Biol 2019
25
14

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
14

Genome-wide DNA methylation analysis in cohesin mutant human cell lines.
Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A Deardorff, Jennifer R Li, Dinah Clark, Maninder Kaur, Kondo Tatsuro, Antonie D Kline,[...]. Nucleic Acids Res 2010
14
21

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
Jonathan D J Labonne, Kang-Han Lee, Shigeki Iwase, Il-Keun Kong, Michael P Diamond, Lawrence C Layman, Cheol-Hee Kim, Hyung-Goo Kim. Hum Genet 2016
30
14

Regulation of chromatin by histone modifications.
Andrew J Bannister, Tony Kouzarides. Cell Res 2011
14

A novel de novo frameshift variant in SETD1B causes epilepsy.
Kouhei Den, Mitsuhiro Kato, Tokito Yamaguchi, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Noriko Miyake, Satomi Mitsuhashi, Naomichi Matsumoto. J Hum Genet 2019
5
60

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.
Orazio Palumbo, Pietro Palumbo, Maurizio Delvecchio, Teresa Palladino, Raffaella Stallone, Matteo Crisetti, Leopoldo Zelante, Massimo Carella. Am J Med Genet A 2015
21
14

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
14

The diverse roles of DNA methylation in mammalian development and disease.
Maxim V C Greenberg, Deborah Bourc'his. Nat Rev Mol Cell Biol 2019
504
14

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
14

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock,[...]. Genet Med 2019
158
14

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
14

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Stéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, Charlotte Rodwell, Charlotte Gueydan, Valérie Lanneau, Daniel Murphy, Yann Le Cam, Ana Rath. Eur J Hum Genet 2020
221
14

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
25
14

SETD2 regulates the maternal epigenome, genomic imprinting and embryonic development.
Qianhua Xu, Yunlong Xiang, Qiujun Wang, Leyun Wang, Julie Brind'Amour, Aaron Blair Bogutz, Yu Zhang, Bingjie Zhang, Guang Yu, Weikun Xia,[...]. Nat Genet 2019
90
14


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.