A citation-based method for searching scientific literature

Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T Siu, Andrei Turinsky, Sanaa Choufani, Sarah J Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg. BMC Med Genomics 2019
Times Cited: 11







List of co-cited articles
33 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
83
45

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
25
45

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
46
36

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
83
36

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
59
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
36

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
44
36

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
21
36

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
55
27

GREAT improves functional interpretation of cis-regulatory regions.
Cory Y McLean, Dave Bristor, Michael Hiller, Shoa L Clarke, Bruce T Schaar, Craig B Lowe, Aaron M Wenger, Gill Bejerano. Nat Biotechnol 2010
27

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
26
27

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
612
27

New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
S Tang, E Hughes, K Lascelles, M A Simpson, D K Pal. Am J Med Genet A 2017
13
27

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
27

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Jeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, Barbera D C van Schaik, Eve Seuntjens, Nelson Avonce, Alejandro Sifrim, Omar A Abdul-Rahman, Marie-José H van den Boogaard, Armand Bottani,[...]. Nat Genet 2012
148
27

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
41
27

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
38
18

DNA methylation-based classification of central nervous system tumours.
David Capper, David T W Jones, Martin Sill, Volker Hovestadt, Daniel Schrimpf, Dominik Sturm, Christian Koelsche, Felix Sahm, Lukas Chavez, David E Reuss,[...]. Nature 2018
830
18

An optimized library for reference-based deconvolution of whole-blood biospecimens assayed using the Illumina HumanMethylationEPIC BeadArray.
Lucas A Salas, Devin C Koestler, Rondi A Butler, Helen M Hansen, John K Wiencke, Karl T Kelsey, Brock C Christensen. Genome Biol 2018
66
18

Withdrawn/Depressed Behaviors and Error-Related Brain Activity in Youth With Obsessive-Compulsive Disorder.
Gregory L Hanna, Yanni Liu, Yona E Isaacs, Angela M Ayoub, Jose J Torres, Nolan B O'Hara, William J Gehring. J Am Acad Child Adolesc Psychiatry 2016
15
18

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
19
18

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
29
18

Preprocessing, normalization and integration of the Illumina HumanMethylationEPIC array with minfi.
Jean-Philippe Fortin, Timothy J Triche, Kasper D Hansen. Bioinformatics 2017
225
18

The Encyclopedia of DNA elements (ENCODE): data portal update.
Carrie A Davis, Benjamin C Hitz, Cricket A Sloan, Esther T Chan, Jean M Davidson, Idan Gabdank, Jason A Hilton, Kriti Jain, Ulugbek K Baymuradov, Aditi K Narayanan,[...]. Nucleic Acids Res 2018
557
18

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Francesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Chiara Fallerini, Laura Dosa, Chiara Di Marco, Giulia Carignani, Margherita Baldassarri, Paola Cianci,[...]. Brain Dev 2015
26
18

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.
Resham Ejaz, Riyana Babul-Hirji, David Chitayat. Clin Case Rep 2016
13
18

Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sérgio B Sousa, Raoul C Hennekam. Am J Med Genet C Semin Med Genet 2014
45
18

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
42
18

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Tomoki Kosho, Yoko Imai, Yumiko Hibi-Ko, Tadashi Kaname, Kenji Naritomi, Hiroshi Kawame, Keiko Wakui,[...]. Nat Genet 2012
309
18

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
18


EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.
Andrei L Turinsky, Sanaa Choufani, Kevin Lu, Da Liu, Pouria Mashouri, Daniel Min, Rosanna Weksberg, Michael Brudno. Hum Mutat 2020
3
66

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
9
22

Rare SUZ12 variants commonly cause an overgrowth phenotype.
Sharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, Kristiina Avela, Kit S Yeung, Brian H Y Chung, Ho-Ming Luk, Nataliya Tkachenko, Sanaa Choufani, Rosanna Weksberg,[...]. Am J Med Genet C Semin Med Genet 2019
9
11

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M Bird, Carol L Clericuzio, Valerie Cormier-Daire, Tom Cushing,[...]. Am J Med Genet A 2013
73
9

DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis.
Lara Kular, Yun Liu, Sabrina Ruhrmann, Galina Zheleznyakova, Francesco Marabita, David Gomez-Cabrero, Tojo James, Ewoud Ewing, Magdalena Lindén, Bartosz Górnikiewicz,[...]. Nat Commun 2018
62
9

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.
Carolin Friemel, Ole Ammerpohl, Jana Gutwein, Andreas G Schmutzler, Almuth Caliebe, Monika Kautza, Sören von Otte, Reiner Siebert, Susanne Bens. Fertil Steril 2014
29
9

Role of histone H3 lysine 27 methylation in Polycomb-group silencing.
Ru Cao, Liangjun Wang, Hengbin Wang, Li Xia, Hediye Erdjument-Bromage, Paul Tempst, Richard S Jones, Yi Zhang. Science 2002
9


Associations between maternal prenatal stress, methylation changes in IGF1 and IGF2, and birth weight.
D Montoya-Williams, J Quinlan, C Clukay, N C Rodney, D A Kertes, C J Mulligan. J Dev Orig Health Dis 2018
9
11

Comparative Protein Structure Modeling Using MODELLER.
Benjamin Webb, Andrej Sali. Curr Protoc Bioinformatics 2016
9

The eed mutation disrupts anterior mesoderm production in mice.
C Faust, A Schumacher, B Holdener, T Magnuson. Development 1995
208
9

The effect of smoking on DNA methylation of peripheral blood mononuclear cells from African American women.
Meeshanthini V Dogan, Bridget Shields, Carolyn Cutrona, Long Gao, Frederick X Gibbons, Ronald Simons, Martha Monick, Gene H Brody, Kai Tan, Steven R H Beach,[...]. BMC Genomics 2014
149
9

EZH2 mutational status predicts poor survival in myelofibrosis.
Paola Guglielmelli, Flavia Biamonte, Joannah Score, Claire Hidalgo-Curtis, Francisco Cervantes, Margherita Maffioli, Tiziana Fanelli, Thomas Ernst, Nils Winkelman, Amy V Jones,[...]. Blood 2011
194
9

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
637
9

Age-associated DNA methylation in pediatric populations.
Reid S Alisch, Benjamin G Barwick, Pankaj Chopra, Leila K Myrick, Glen A Satten, Karen N Conneely, Stephen T Warren. Genome Res 2012
234
9

A novel mutation in EED associated with overgrowth.
Ana S A Cohen, Beyhan Tuysuz, Yaoqing Shen, Sanjiv K Bhalla, Steven J M Jones, William T Gibson. J Hum Genet 2015
42
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
356
9

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara,[...]. Hum Mutat 2017
44
9

High density DNA methylation array with single CpG site resolution.
Marina Bibikova, Bret Barnes, Chan Tsan, Vincent Ho, Brandy Klotzle, Jennie M Le, David Delano, Lu Zhang, Gary P Schroth, Kevin L Gunderson,[...]. Genomics 2011
9


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.