A citation-based method for searching scientific literature

Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L Kang, Amber Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine Weaver, Elizabeth R Roeder, Theresa A Grebe, Georgianne L Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W Innis, Ewa Obersztyn, Beata Nowakowska, Sally S Rosengren, Patricia I Bader, Dorothy K Grange, Sayed Naqvi, Adolfo D Garnica, Saunder M Bernes, Chin-To Fong, Anne Summers, W David Walters, James R Lupski, Pawel Stankiewicz, Sau Wai Cheung, Ankita Patel. Nat Genet 2008
Times Cited: 387







List of co-cited articles
1139 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle,[...]. N Engl J Med 2008
513
54

Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Raphael Bernier, Kyle J Steinman, Beau Reilly, Arianne Stevens Wallace, Elliott H Sherr, Nicholas Pojman, Heather C Mefford, Jennifer Gerdts, Rachel Earl, Ellen Hanson,[...]. Genet Med 2016
73
43

Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
29

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth. Eur J Hum Genet 2012
61
36

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto,[...]. Nat Genet 2017
394
19

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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,[...]. N Engl J Med 2012
350
16

1q21.1 Microduplication expression in adults.
Alessia Dolcetti, Candice K Silversides, Christian R Marshall, Anath C Lionel, Dimitri J Stavropoulos, Stephen W Scherer, Anne S Bassett. Genet Med 2013
58
27

Association between microdeletion and microduplication at 16p11.2 and autism.
Lauren A Weiss, Yiping Shen, Joshua M Korn, Dan E Arking, David T Miller, Ragnheidur Fossdal, Evald Saemundsen, Hreinn Stefansson, Manuel A R Ferreira, Todd Green,[...]. N Engl J Med 2008
15

A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
799
15


Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
14

The penetrance of copy number variations for schizophrenia and developmental delay.
George Kirov, Elliott Rees, James T R Walters, Valentina Escott-Price, Lyudmila Georgieva, Alexander L Richards, Kimberly D Chambert, Gerwyn Davies, Sophie E Legge, Jennifer L Moran,[...]. Biol Psychiatry 2014
191
14

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
Ian T Fiddes, Gerrald A Lodewijk, Meghan Mooring, Colleen M Bosworth, Adam D Ewing, Gary L Mantalas, Adam M Novak, Anouk van den Bout, Alex Bishara, Jimi L Rosenkrantz,[...]. Cell 2018
150
14

DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Laura J Dumas, Majesta S O'Bleness, Jonathan M Davis, C Michael Dickens, Nathan Anderson, J G Keeney, Jay Jackson, Megan Sikela, Armin Raznahan, Jay Giedd,[...]. Am J Hum Genet 2012
65
20

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Jesse Christiansen, John D Dyck, Basil G Elyas, Margaret Lilley, J Stephen Bamforth, Mark Hicks, Kathleen A Sprysak, Robert Tomaszewski, Shelagh M Haase, Leanne M Vicen-Wyhony,[...]. Circ Res 2004
104
12

Analysis of copy number variations at 15 schizophrenia-associated loci.
Elliott Rees, James T R Walters, Lyudmila Georgieva, Anthony R Isles, Kimberly D Chambert, Alexander L Richards, Gerwyn Mahoney-Davies, Sophie E Legge, Jennifer L Moran, Steven A McCarroll,[...]. Br J Psychiatry 2014
218
12


Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.
Martina Busè, Helenia C Cuttaia, Daniela Palazzo, Marcella V Mazara, Salvatrice A Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione. Ital J Pediatr 2017
15
80

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, Rui Luo, Michael T Murtha, Daniel Moreno-De-Luca, Su H Chu, Michael P Moreau, Abha R Gupta, Susanne A Thomson,[...]. Neuron 2011
800
11

Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation.
Ikuo K Suzuki, David Gacquer, Roxane Van Heurck, Devesh Kumar, Marta Wojno, Angéline Bilheu, Adèle Herpoel, Nelle Lambert, Julian Cheron, Franck Polleux,[...]. Cell 2018
114
11

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Rachel Soemedi, Ana Topf, Ian J Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya,[...]. Hum Mol Genet 2012
72
15

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.
Hanqian Mao, Louis-Jan Pilaz, John J McMahon, Christelle Golzio, Danwei Wu, Lei Shi, Nicholas Katsanis, Debra L Silver. J Neurosci 2015
46
21

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
247
10

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
10

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Andrew J Sharp, Sierra Hansen, Rebecca R Selzer, Ze Cheng, Regina Regan, Jane A Hurst, Helen Stewart, Sue M Price, Edward Blair, Raoul C Hennekam,[...]. Nat Genet 2006
428
10

Estimates of penetrance for recurrent pathogenic copy-number variations.
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
183
10

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
M Cristina Digilio, Laura Bernardini, Federica Consoli, Francesca R Lepri, M Grazia Giuffrida, Anwar Baban, Cecilia Surace, Rosangela Ferese, Adriano Angioni, Antonio Novelli,[...]. Eur J Med Genet 2013
24
41

Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains.
Magdalena C Popesco, Erik J Maclaren, Janet Hopkins, Laura Dumas, Michael Cox, Lynne Meltesen, Loris McGavran, Gerald J Wyckoff, James M Sikela. Science 2006
124
10

Structural variation of chromosomes in autism spectrum disorder.
Christian R Marshall, Abdul Noor, John B Vincent, Anath C Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren,[...]. Am J Hum Genet 2008
9

Microduplications of 16p11.2 are associated with schizophrenia.
Shane E McCarthy, Vladimir Makarov, George Kirov, Anjene M Addington, Jon McClellan, Seungtai Yoon, Diana O Perkins, Diane E Dickel, Mary Kusenda, Olga Krastoshevsky,[...]. Nat Genet 2009
475
9

CNVs conferring risk of autism or schizophrenia affect cognition in controls.
Hreinn Stefansson, Andreas Meyer-Lindenberg, Stacy Steinberg, Brynja Magnusdottir, Katrin Morgen, Sunna Arnarsdottir, Gyda Bjornsdottir, G Bragi Walters, Gudrun A Jonsdottir, Orla M Doyle,[...]. Nature 2014
370
9

Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers,[...]. Nat Genet 2014
316
9

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
411
8

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley,[...]. J Med Genet 2010
317
8

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
145
8

Copy number variations and cognitive phenotypes in unselected populations.
Katrin Männik, Reedik Mägi, Aurélien Macé, Ben Cole, Anna L Guyatt, Hashem A Shihab, Anne M Maillard, Helene Alavere, Anneli Kolk, Anu Reigo,[...]. JAMA 2015
84
9

The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
Debra L Silver, Dawn E Watkins-Chow, Karisa C Schreck, Tarran J Pierfelice, Denise M Larson, Anthony J Burnetti, Hung-Jiun Liaw, Kyungjae Myung, Christopher A Walsh, Nicholas Gaiano,[...]. Nat Neurosci 2010
110
8

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
G Kirov, A J Pocklington, P Holmans, D Ivanov, M Ikeda, D Ruderfer, J Moran, K Chambert, D Toncheva, L Georgieva,[...]. Mol Psychiatry 2012
513
8

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
8

A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution.
Karl Vandepoele, Nadine Van Roy, Katrien Staes, Frank Speleman, Frans van Roy. Mol Biol Evol 2005
93
8

Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.
Douglas F Levinson, Jubao Duan, Sang Oh, Kai Wang, Alan R Sanders, Jianxin Shi, Nancy Zhang, Bryan J Mowry, Ann Olincy, Farooq Amin,[...]. Am J Psychiatry 2011
314
8

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.
Tom Walsh, Jon M McClellan, Shane E McCarthy, Anjené M Addington, Sarah B Pierce, Greg M Cooper, Alex S Nord, Mary Kusenda, Dheeraj Malhotra, Abhishek Bhandari,[...]. Science 2008
8

Diversity of human copy number variation and multicopy genes.
Peter H Sudmant, Jacob O Kitzman, Francesca Antonacci, Can Alkan, Maika Malig, Anya Tsalenko, Nick Sampas, Laurakay Bruhn, Jay Shendure, Evan E Eichler. Science 2010
431
8

Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.
Marta Florio, Mareike Albert, Elena Taverna, Takashi Namba, Holger Brandl, Eric Lewitus, Christiane Haffner, Alex Sykes, Fong Kuan Wong, Jula Peters,[...]. Science 2015
258
8


Evolutionary history and genome organization of DUF1220 protein domains.
Majesta S O'Bleness, C Michael Dickens, Laura J Dumas, Hildegard Kehrer-Sawatzki, Gerald J Wyckoff, James M Sikela. G3 (Bethesda) 2012
45
17

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Stephan J Sanders, Xin He, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Kaitlin E Samocha, A Ercument Cicek, Michael T Murtha, Vanessa H Bal, Somer L Bishop, Shan Dong,[...]. Neuron 2015
592
8

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D Beckmann,[...]. Nature 2011
263
7

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Debra D'Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M Maillard, W Andrew Faucett, Aurélien Macé,[...]. JAMA Psychiatry 2016
103
7

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Santhosh Girirajan, Megan Y Dennis, Carl Baker, Maika Malig, Bradley P Coe, Catarina D Campbell, Kenneth Mark, Tiffany H Vu, Can Alkan, Ze Cheng,[...]. Am J Hum Genet 2013
182
7


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.