A citation-based method for searching scientific literature

Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino, Marjan M Nezarati, Alexander Asamoah, Kelly E Jackson, Gordon C Gowans, Judith A Martin, Erin P Carmany, David W Stockton, Rhonda E Schnur, Lynette S Penney, Donna M Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M Niyazov, Luis F Escobar, Dima El-Khechen, Kisha D Johnson, Robert R Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K Brasington, J Edward Spence, Laura S Martin, Carol Clericuzio, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. N Engl J Med 2012
Times Cited: 350







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



Times Cited
  Times     Co-cited
Similarity


AMPK signaling linked to the schizophrenia-associated 1q21.1 deletion is required for neuronal and sleep maintenance.
Stanislav Nagy, Gianna W Maurer, Julie L Hentze, Morten Rose, Thomas M Werge, Kim Rewitz. PLoS Genet 2018
6
16

Nrarp coordinates endothelial Notch and Wnt signaling to control vessel density in angiogenesis.
Li-Kun Phng, Michael Potente, Jonathan D Leslie, Jane Babbage, Daniel Nyqvist, Ivan Lobov, Jennifer K Ondr, Sujata Rao, Richard A Lang, Gavin Thurston,[...]. Dev Cell 2009
237
1

Cannabis use and the course of schizophrenia: 10-year follow-up after first hospitalization.
Daniel J Foti, Roman Kotov, Lin T Guey, Evelyn J Bromet. Am J Psychiatry 2010
124
1

Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.
Roberta Milone, Angelo Valetto, Roberta Battini, Veronica Bertini, Giulia Valvo, Giovanni Cioni, Federico Sicca. Eur J Med Genet 2016
8
12

Emerging biomarkers in autism spectrum disorder: a systematic review.
Richard E Frye, Sarah Vassall, Gurjot Kaur, Christina Lewis, Mohammand Karim, Daniel Rossignol. Ann Transl Med 2019
19
5

Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.
Hui Pang, Xiaowei Yu, Young Mi Kim, Xianfu Wang, Jeremy K Jinkins, Jianing Yin, Shibo Li, Hongcang Gu. Front Genet 2020
1
100

Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1.
N Lijam, R Paylor, M P McDonald, J N Crawley, C X Deng, K Herrup, K E Stevens, G Maccaferri, C J McBain, D J Sussman,[...]. Cell 1997
358
1

Molecular and cellular approaches for diversifying and extending optogenetics.
Viviana Gradinaru, Feng Zhang, Charu Ramakrishnan, Joanna Mattis, Rohit Prakash, Ilka Diester, Inbal Goshen, Kimberly R Thompson, Karl Deisseroth. Cell 2010
571
1

Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.
Lisa Bastarache, Jacob J Hughey, Jeffrey A Goldstein, Julie A Bastraache, Satya Das, Neil Charles Zaki, Chenjie Zeng, Leigh Anne Tang, Dan M Roden, Joshua C Denny. J Am Med Inform Assoc 2019
6
16

Barriers to Lynch Syndrome Testing and Preoperative Result Availability in Early-onset Colorectal Cancer: A National Physician Survey Study.
Alan Noll, Parth J Parekh, Meijiao Zhou, Thomas K Weber, Dennis Ahnen, Xiao-Cheng Wu, Jordan J Karlitz. Clin Transl Gastroenterol 2018
13
7

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
122
1

The ENCODE Blacklist: Identification of Problematic Regions of the Genome.
Haley M Amemiya, Anshul Kundaje, Alan P Boyle. Sci Rep 2019
142
1

Material community deprivation and hospital utilization during the first year of life: an urban population-based cohort study.
Cole Brokamp, Andrew F Beck, Neera K Goyal, Patrick Ryan, James M Greenberg, Eric S Hall. Ann Epidemiol 2019
30
3

Opportunities and challenges in developing risk prediction models with electronic health records data: a systematic review.
Benjamin A Goldstein, Ann Marie Navar, Michael J Pencina, John P A Ioannidis. J Am Med Inform Assoc 2017
210
1


From Local Explanations to Global Understanding with Explainable AI for Trees.
Scott M Lundberg, Gabriel Erion, Hugh Chen, Alex DeGrave, Jordan M Prutkin, Bala Nair, Ronit Katz, Jonathan Himmelfarb, Nisha Bansal, Su-In Lee. Nat Mach Intell 2020
147
1

The burden of rare diseases.
Carlos R Ferreira. Am J Med Genet A 2019
38
2

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms.
Sharon J Diskin, Mingyao Li, Cuiping Hou, Shuzhang Yang, Joseph Glessner, Hakon Hakonarson, Maja Bucan, John M Maris, Kai Wang. Nucleic Acids Res 2008
223
1

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Joshua C Denny, Lisa Bastarache, Marylyn D Ritchie, Robert J Carroll, Raquel Zink, Jonathan D Mosley, Julie R Field, Jill M Pulley, Andrea H Ramirez, Erica Bowton,[...]. Nat Biotechnol 2013
429
1

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Lisa Bastarache, Jacob J Hughey, Scott Hebbring, Joy Marlo, Wanke Zhao, Wanting T Ho, Sara L Van Driest, Tracy L McGregor, Jonathan D Mosley, Quinn S Wells,[...]. Science 2018
68
1


Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.
Angel C Y Mak, Yvonne Y Y Lai, Ernest T Lam, Tsz-Piu Kwok, Alden K Y Leung, Annie Poon, Yulia Mostovoy, Alex R Hastie, William Stedman, Thomas Anantharaman,[...]. Genetics 2016
74
1

Local Inversion Heterozygosity Alters Recombination throughout the Genome.
K Nicole Crown, Danny E Miller, Jeff Sekelsky, R Scott Hawley. Curr Biol 2018
26
3

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Alisa Nakamine, Leonid Ouchanov, Patricia Jiménez, Elina R Manghi, Marcela Esquivel, Silvia Monge, Marietha Fallas, Barbara K Burton, Barbara Szomju, Sarah H Elsea,[...]. Am J Med Genet A 2008
25
4

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Tingwei Guo, Alexander Diacou, Hiroko Nomaru, Donna M McDonald-McGinn, Matthew Hestand, Wolfram Demaerel, Liangtian Zhang, Yingjie Zhao, Francisco Ujueta, Jidong Shan,[...]. Hum Mol Genet 2018
11
9

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.
Pietro Palumbo, Vincenzo Antona, Orazio Palumbo, Maria Piccione, Rosaria Nardello, Antonina Fontana, Massimo Carella, Giovanni Corsello. Gene 2014
19
5

Characterization of six human disease-associated inversion polymorphisms.
Francesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, Mario Ventura, Priscillia Siswara, Zhaoshi Jiang, Evan E Eichler. Hum Mol Genet 2009
80
1

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
Giorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, Silvia Russo, Daniela Giardino, Lidia Larizza, Joseph Cheung, Lluís Armengol, Albert Schinzel, Xavier Estivill,[...]. Hum Mol Genet 2003
94
1

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.
R Das Chakraborty, A J Bernal, K Schoch, T D Howard, E H Ip, S R Hooper, M S Keshavan, R L Jirtle, V Shashi. Transl Psychiatry 2012
14
7

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, Cédric Le Caignec, Chantal Missirian, Sylvie Jaillard, Caroline Schluth-Bolard, Emilie Landais, Odile Boute, Nicole Philip,[...]. Eur J Med Genet 2011
41
2

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.
M Upadhyaya, M Ruggieri, J Maynard, M Osborn, C Hartog, S Mudd, M Penttinen, I Cordeiro, M Ponder, B A Ponder,[...]. Hum Genet 1998
124
1

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Jayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, Nicole de Leeuw, Rolph Pfundt, Jan K Buitelaar, Luis A Pérez-Jurado, Joris A Veltman. J Med Genet 2011
75
1

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Lisanne Vervoort, Wolfram Demaerel, Laura Y Rengifo, Adrian Odrzywolski, Elfi Vergaelen, Matthew S Hestand, Jeroen Breckpot, Koen Devriendt, Ann Swillen, Donna M McDonald-McGinn,[...]. Hum Mol Genet 2019
3
33

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
S E Antonarakis, J P Rossiter, M Young, J Horst, P de Moerloose, S S Sommer, R P Ketterling, H H Kazazian, C Négrier, C Vinciguerra,[...]. Blood 1995
235
1

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.
Eva Albertsen Malt, Katalin Juhasz, Anna Frengen, Teresia Wangensteen, Nina Merete Emilsen, Borre Hansen, Oleg Agafonov, Hilde Loge Nilsen. Mol Genet Genomic Med 2019
4
25

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García, Raquel Flores, Maria Gabriela Palacios-Verdú, Ivon Cusco, Luis Alberto Pérez-Jurado. J Med Genet 2019
4
25

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.
A Wischmeijer, P Magini, R Giorda, M Gnoli, R Ciccone, L Cecconi, E Franzoni, L Mazzanti, G Romeo, O Zuffardi,[...]. Mol Syndromol 2011
16
6

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.
S Demczuk, A Lévy, M Aubry, M F Croquette, N Philip, M Prieur, U Sauer, P Bouvagnet, G A Rouleau, G Thomas. Hum Genet 1995
49
2

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Maria Delio, Tingwei Guo, Donna M McDonald-McGinn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jalbrzikowski,[...]. Am J Hum Genet 2013
31
3

High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.
Graham Coop, Xiaoquan Wen, Carole Ober, Jonathan K Pritchard, Molly Przeworski. Science 2008
249
1

Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Augustine Kong, Gudmar Thorleifsson, Hreinn Stefansson, Gisli Masson, Agnar Helgason, Daniel F Gudbjartsson, Gudrun M Jonsdottir, Sigurjon A Gudjonsson, Sverrir Sverrisson, Theodora Thorlacius,[...]. Science 2008
126
1

Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Heather C Mefford, Jill A Rosenfeld, Natasha Shur, Anne M Slavotinek, Victoria A Cox, Raoul C Hennekam, Helen V Firth, Lionel Willatt, Patricia Wheeler, Eric M Morrow,[...]. J Med Genet 2012
29
3

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.
Holly H Hobart, Colleen A Morris, Carolyn B Mervis, Ariel M Pani, Doris J Kistler, Cecilia M Rios, Kendra W Kimberley, Ronald G Gregg, Patricia Bray-Ward. Am J Med Genet C Semin Med Genet 2010
28
3

Comprehensive human genetic maps: individual and sex-specific variation in recombination.
K W Broman, J C Murray, V C Sheffield, R L White, J L Weber. Am J Hum Genet 1998
906
1

Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS.
Elena Michaelovsky, Doron Gothelf, Michael Korostishevsky, Amos Frisch, Merav Burg, Miri Carmel, Tamar Steinberg, Dov Inbar, Alan Apter, Abraham Weizman. Int J Neuropsychopharmacol 2008
39
2

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
L R Osborne, M Li, B Pober, D Chitayat, J Bodurtha, A Mandel, T Costa, T Grebe, S Cox, L C Tsui,[...]. Nat Genet 2001
216
1

Monozygotic twins with 17q21.31 microdeletion syndrome.
Marketa Vlckova, Miroslava Hancarova, Jana Drabova, Zuzana Slamova, Monika Koudova, Renata Alanova, Katrin Mannik, Ants Kurg, Zdenek Sedlacek. Twin Res Hum Genet 2014
4
25

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
L Alison McInnes, Alisa Nakamine, Marion Pilorge, Tracy Brandt, Patricia Jiménez González, Marietha Fallas, Elina R Manghi, Lisa Edelmann, Joseph Glessner, Hakon Hakonarson,[...]. Mol Autism 2010
34
2

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
Roberta Lelis Dutra, Patrícia de Campos Pieri, Ana Carolina Dias Teixeira, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim. Clinics (Sao Paulo) 2011
17
5

A high-resolution recombination map of the human genome.
Augustine Kong, Daniel F Gudbjartsson, Jesus Sainz, Gudrun M Jonsdottir, Sigurjon A Gudjonsson, Bjorgvin Richardsson, Sigrun Sigurdardottir, John Barnard, Bjorn Hallbeck, Gisli Masson,[...]. Nat Genet 2002
1


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.