A citation-based method for searching scientific literature

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, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet, Frederic Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel Mannens, Peter Henneman, Raoul C Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M Campeau, Justine Rousseau, Michael A Levy, Lauren Brick, Mariya Kozenko, Tugce B Balci, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gecz, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Michael J Friez, Matt Tedder, Jennifer A Lee, Barbara R DuPont, Roger E Stevenson, Steven A Skinner, Charles E Schwartz, David Genevieve, Bekim Sadikovic. Am J Hum Genet 2020
Times Cited: 61







List of co-cited articles
419 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
41

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
72
37

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
36

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
54

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
44

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
69

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
36

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
24

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
58

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
22

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
22

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
21

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

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
52

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
31

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

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
45


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
42

The Mendelian disorders of the epigenetic machinery.
Hans Tomas Bjornsson. Genome Res 2015
82
14

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
57

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
17

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

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
13

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
28

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
152
11


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
63

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
11

DNA Methylation in the Diagnosis of Monogenic Diseases.
Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri,[...]. Genes (Basel) 2020
16
37

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
35

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
9

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
100
9

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
9

Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders.
Sadegheh Haghshenas, Pratibha Bhai, Erfan Aref-Eshghi, Bekim Sadikovic. Int J Mol Sci 2020
9
66

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
9

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
17

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
15

The diverse roles of DNA methylation in mammalian development and disease.
Maxim V C Greenberg, Deborah Bourc'his. Nat Rev Mol Cell Biol 2019
543
8

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
11

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


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
22

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
26
19

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
8

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A Levy, Andrés Hernández-García, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson,[...]. Am J Hum Genet 2021
22
22

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
9

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady,[...]. Sci Transl Med 2017
317
6

Genetic diagnosis of Mendelian disorders via RNA sequencing.
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile,[...]. Nat Commun 2017
234
6

The Matchmaker Exchange: a platform for rare disease gene discovery.
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Michael Brudno, Han G Brunner, Orion J Buske, Knox Carey, Cassie Doll,[...]. Hum Mutat 2015
261
6


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.