A citation-based method for searching scientific literature

Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, Sarah J Goodman, Michelle T Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B A de Vries, A Chantal Deden, Erika Leenders, Michael Kwint, Constance T R M Stumpel, Servi J C Stevens, Jeroen R Vermeulen, Jeske V T van Harssel, Danielle G M Bosch, Koen L I van Gassen, Ellen van Binsbergen, Christa M de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan Strober, Amy Crunk, Leandra Folk, Ingrid M Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian B Ousager, Martin Larsen, Laura Schultz-Rogers, Eva Morava, Eric W Klee, Ian R Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M Neumeyer, Jessica A Radley, Chanika Phornphutkul, Berkley Schmidt, William G Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos-Simarro, María Palomares-Bralo, Marta Pacio-Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti-Pierri, Leah Rowe, Jason Bunn, Margarita Saenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J M Nowaczyk, Ronald D Cohn, Peter Kannu, Ebba Alkhunaizi, David Chitayat, Stephen W Scherer, Han G Brunner, Lisenka E L M Vissers, Tjitske Kleefstra, David A Koolen, Rosanna Weksberg. Am J Hum Genet 2021
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity



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
100

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
17
100

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
100


Variant Interpretation: Functional Assays to the Rescue.
Lea M Starita, Nadav Ahituv, Maitreya J Dunham, Jacob O Kitzman, Frederick P Roth, Georg Seelig, Jay Shendure, Douglas M Fowler. Am J Hum Genet 2017
124
100

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Michael S Breen, Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa, Anne B Arnett, Evangeline Kurtz-Nelson, Emanuele Agolini, Agatino Battaglia,[...]. Am J Hum Genet 2020
5
100

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
100

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T Siu, Andrei Turinsky, Sanaa Choufani, Sarah J Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani,[...]. BMC Med Genomics 2019
11
100

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
Vera G Pshennikova, Nikolay A Barashkov, Georgii P Romanov, Fedor M Teryutin, Aisen V Solov'ev, Nyurgun N Gotovtsev, Alena A Nikanorova, Sergey S Nakhodkin, Nikolay N Sazonov, Igor V Morozov,[...]. ScientificWorldJournal 2019
2
100

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
100

Improving cell mixture deconvolution by identifying optimal DNA methylation libraries (IDOL).
Devin C Koestler, Meaghan J Jones, Joseph Usset, Brock C Christensen, Rondi A Butler, Michael S Kobor, John K Wiencke, Karl T Kelsey. BMC Bioinformatics 2016
54
100

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Jérémie Courraud, Eric Chater-Diehl, Benjamin Durand, Marie Vincent, Maria Del Mar Muniz Moreno, Imene Boujelbene, Nathalie Drouot, Loréline Genschik, Elise Schaefer, Mathilde Nizon,[...]. Genet Med 2021
1
100

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
31
100

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
100

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
100

Epigenetic signatures in overgrowth syndromes: Translational opportunities.
Cheryl Cytrynbaum, Sanaa Choufani, Rosanna Weksberg. Am J Med Genet C Semin Med Genet 2019
5
100

Signatures of mutational processes in human cancer.
Ludmil B Alexandrov, Serena Nik-Zainal, David C Wedge, Samuel A J R Aparicio, Sam Behjati, Andrew V Biankin, Graham R Bignell, Niccolò Bolli, Ake Borg, Anne-Lise Børresen-Dale,[...]. Nature 2013
100

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
100

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment.
Ping Wang, Mingyan Lin, Erika Pedrosa, Anastasia Hrabovsky, Zheng Zhang, Wenjun Guo, Herbert M Lachman, Deyou Zheng. Mol Autism 2015
85
100

How good are pathogenicity predictors in detecting benign variants?
Abhishek Niroula, Mauno Vihinen. PLoS Comput Biol 2019
21
100

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
100

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
100

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells.
Ping Wang, Ryan Mokhtari, Erika Pedrosa, Michael Kirschenbaum, Can Bayrak, Deyou Zheng, Herbert M Lachman. Mol Autism 2017
127
100

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
100

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
100

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Sara Cuvertino, Verity Hartill, Alice Colyer, Terence Garner, Nisha Nair, Lihadh Al-Gazali, Natalie Canham, Victor Faundes, Frances Flinter, Jozef Hertecant,[...]. Genet Med 2020
12
100

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
100

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
100

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
100

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
12
100

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
100

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
31
100


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.