A citation-based method for searching scientific literature

Andrei L Turinsky, Sanaa Choufani, Kevin Lu, Da Liu, Pouria Mashouri, Daniel Min, Rosanna Weksberg, Michael Brudno. Hum Mutat 2020
Times Cited: 3







List of co-cited articles
13 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
46
100


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
66

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
66

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
66

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
66

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
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
66

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
66

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
66

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
66

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
66

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
66

EID3 is a novel EID family member and an inhibitor of CBP-dependent co-activation.
Ann Båvner, Jason Matthews, Sabyasachi Sanyal, Jan-Ake Gustafsson, Eckardt Treuter. Nucleic Acids Res 2005
39
33

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
972
33

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Sarah M Nikkel, Andrew Dauber, Sonja de Munnik, Meghan Connolly, Rebecca L Hood, Oana Caluseriu, Jane Hurst, Usha Kini, Malgorzata J M Nowaczyk, Alexandra Afenjar,[...]. Orphanet J Rare Dis 2013
42
33

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.
Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof, Denise Horn. BMC Med Genet 2014
18
33

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Maria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, Cara Forster, E Hallie Andrew, Irina Anselm, Kristin W Baranano, Lauren C Briere, Julie S Cohen, William J Craigen,[...]. Am J Hum Genet 2020
18
33

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Lonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline Cw Klaver, Joke Bgm Verheij, Carel B Hoyng, Martijn H Breuning, Camiel Jf Boon, Anneke J Kievit,[...]. Eur J Hum Genet 2017
59
33

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
33

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Valérie Malan, Diana Rajan, Sophie Thomas, Adam C Shaw, Hélène Louis Dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri,[...]. Am J Hum Genet 2010
89
33

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Ivo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, Claudia A L Ruivenkamp, Maartje J Vogel, Rolph Pfundt, Marinus J Blok, Ronald H Lekanne Deprez, Quinten Waisfisz, Kristin M Abbott,[...]. Hum Mutat 2019
10
33


Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
Siddharth Banka, Rebecca Sayer, Catherine Breen, Stephanie Barton, Julija Pavaine, Sarah E Sheppard, Emma Bedoukian, Cara Skraban, Vishnu A Cuddapah, Jill Clayton-Smith. Am J Med Genet A 2019
12
33


The human SRCAP chromatin remodeling complex promotes DNA-end resection.
Shunli Dong, Jinhua Han, Hongxia Chen, Ting Liu, Michael S Y Huen, Yeran Yang, Caixia Guo, Jun Huang. Curr Biol 2014
41
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
35
33

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Maja Hempel, Kirsten Cremer, Charlotte W Ockeloen, Klaske D Lichtenbelt, Johanna C Herkert, Jonas Denecke, Tobias B Haack, Alexander M Zink, Jessica Becker, Eva Wohlleber,[...]. Am J Hum Genet 2015
52
33

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Leonie A Menke, Martine J van Belzen, Marielle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H Gerkes, Mariëtte J V Hoffer, Denise Horn,[...]. Am J Med Genet A 2016
24
33

Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation.
Yi-an Chen, Sanaa Choufani, Daria Grafodatskaya, Darci T Butcher, Jose C Ferreira, Rosanna Weksberg. Am J Hum Genet 2012
18
33

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).
Anja L Frederiksen, Martin J Larsen, Klaus Brusgaard, Deborah V Novack, Peter Juel Thiis Knudsen, Henrik Daa Schrøder, Weimin Qiu, Christina Eckhardt, William H McAlister, Moustapha Kassem,[...]. J Bone Miner Res 2016
10
33

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo,[...]. Am J Hum Genet 2017
41
33

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.
Paulien A Terhal, Judith M Vlaar, Sjors Middelkamp, Rutger A J Nievelstein, Peter G J Nikkels, Jamila Ross, Marijn Créton, Jeroen W Bos, Elsbeth S M Voskuil-Kerkhof, Edwin Cuppen,[...]. Eur J Hum Genet 2020
11
33

The second AT-hook of the architectural transcription factor HMGA2 is determinant for nuclear localization and function.
Giacomo Cattaruzzi, Sandro Altamura, Michela A Tessari, Alessandra Rustighi, Vincenzo Giancotti, Carlo Pucillo, Guidalberto Manfioletti. Nucleic Acids Res 2007
26
33

The AT-Hook motif as a versatile minor groove anchor for promoting DNA binding of transcription factor fragments.
Jéssica Rodríguez, Jesús Mosquera, Jose R Couceiro, M Eugenio Vázquez, José L Mascareñas. Chem Sci 2015
23
33

When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.
Giovanni Messina, Maria Teresa Atterrato, Patrizio Dimitri. J Med Genet 2016
17
33

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Marianna Alagia, Renata Auricchio, Annamaria Staiano, Vincenzo Nigro, Nicola Brunetti-Pierri. Am J Med Genet A 2017
13
33


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
33

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.
S Pajusalu, T Kahre, H Roomere, Ü Murumets, L Roht, K Simenson, T Reimand, K Õunap. Clin Genet 2018
19
33

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Tangui Le Guen, Laurent Jullien, Fabien Touzot, Michael Schertzer, Laetitia Gaillard, Mylène Perderiset, Wassila Carpentier, Patrick Nitschke, Capucine Picard, Gérard Couillault,[...]. Hum Mol Genet 2013
103
33

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Rebecca L Hood, Matthew A Lines, Sarah M Nikkel, Jeremy Schwartzentruber, Chandree Beaulieu, Małgorzata J M Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S Moilanen,[...]. Am J Hum Genet 2012
105
33


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
33

Putting genome-wide sequencing in neonates into perspective.
Pleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, Emilia K Bijlsma, Regina Bökenkamp-Gramann, Laura Donker Kaat, Remco van Doorn, Dietje Fransen van de Putte, Arie van Haeringen, Arend D J Ten Harkel,[...]. Genet Med 2019
5
33

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Roos van der Donk, Sandra Jansen, Janneke H M Schuurs-Hoeijmakers, David A Koolen, Lia C M J Goltstein, Alexander Hoischen, Han G Brunner, Patrick Kemmeren, Christoffer Nellåker, Lisenka E L M Vissers,[...]. Genet Med 2019
10
33

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.
M Kehrer, A Beckmann, J Wyduba, U Finckh, A Dufke, U Gaiser, A Tzschach. Clin Genet 2014
12
33

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
33

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Francisco Martinez, Purificación Marín-Reina, Amparo Sanchis-Calvo, Antonio Perez-Aytés, Silvestre Oltra, Mónica Roselló, Sonia Mayo, Sandra Monfort, Jorge Pantoja, Carmen Orellana. Pediatr Res 2015
17
33

16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.
Francesca Gerundino, Guiseppina Marseglia, Chiara Pescucci, Elisabetta Pelo, Matteo Benelli, Claudia Giachini, Benedetta Federighi, Carla Antonelli, Francesca Torricelli. Eur J Med Genet 2014
9
33


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.