A citation-based method for searching scientific literature

Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koen Devriendt, Ernie M H F Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frederique Bena, Raoul C Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton-Smith, Ingrid Simonic, Soo Mi Park, Sarju G Mehta, Serena Nik-Zainal, C Geoffrey Woods, Helen V Firth, Georgina Parkin, Marco Fichera, Santina Reitano, Mariangela Lo Giudice, Kelly E Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John L Tolmie, Edward S Tobias, Chris Lilley, Lluis Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel R Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary-Claire King, Regina Regan, Cindy Skinner, Roger E Stevenson, Stylianos E Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S Sutcliffe, Tom Walsh, Samantha J L Knight, Jonathan Sebat, Corrado Romano, Charles E Schwartz, Joris A Veltman, Bert B A de Vries, Joris R Vermeesch, John C K Barber, Lionel Willatt, May Tassabehji, Evan E Eichler. N Engl J Med 2008
Times Cited: 514







List of co-cited articles
1051 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
389
60

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
46

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
42

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
26

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
34

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
18

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
18

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
353
16

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
398
16

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
20

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
184
15

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
14


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
251
13

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
194
13


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

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
803
12

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
12

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
50

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
802
11

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
11

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
67
16

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
11

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
154
11

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
429
10

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Steven C Greenway, Alexandre C Pereira, Jennifer C Lin, Steven R DePalma, Samuel J Israel, Sonia M Mesquita, Emel Ergul, Jessie H Conta, Joshua M Korn, Steven A McCarroll,[...]. Nat Genet 2009
296
10

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
10

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
10

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
601
9

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
515
8

Functional impact of global rare copy number variation in autism spectrum disorders.
Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R Magalhaes, Catarina Correia, Brett S Abrahams,[...]. Nature 2010
8

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
371
8

Human copy number variation and complex genetic disease.
Santhosh Girirajan, Catarina D Campbell, Evan E Eichler. Annu Rev Genet 2011
207
8

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


The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
8


Understanding the impact of 1q21.1 copy number variant.
Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray,[...]. Orphanet J Rare Dis 2011
39
20

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
513
8

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
118
8

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
Valentina Guida, Rosangela Ferese, Marcella Rocchetti, Monica Bonetti, Anna Sarkozy, Serena Cecchetti, Vania Gelmetti, Francesca Lepri, Massimiliano Copetti, Giuseppe Lamorte,[...]. Eur J Hum Genet 2013
24
29

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
94
7

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
7

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, Jenneke van den Ende, Edwin Reyniers, Marco Fichera, Corrado Romano, Barbara Delle Chiaie, Geert Mortier, Björn Menten,[...]. Eur J Med Genet 2009
113
7

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
316
7

Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma'ayan, Kaitlin E Samocha, Aniko Sabo, Chiao-Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov,[...]. Nature 2012
7

Microduplication 22q11.2: a new chromosomal syndrome.
Marie-France Portnoï. Eur J Med Genet 2009
145
7

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Stephan J Sanders, Michael T Murtha, Abha R Gupta, John D Murdoch, Melanie J Raubeson, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Nicholas M DiLullo, Neelroop N Parikshak, Jason L Stein,[...]. Nature 2012
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.