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


Tuberous sclerosis.
Paolo Curatolo, Roberta Bombardieri, Sergiusz Jozwiak. Lancet 2008
643
4

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
Kim L McBride, Elizabeth A Varga, Matthew T Pastore, Thomas W Prior, Kandamurugu Manickam, Joan F Atkin, Gail E Herman. Autism Res 2010
155
4

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
R E Amir, I B Van den Veyver, M Wan, C Q Tran, U Francke, H Y Zoghbi. Nat Genet 1999
4

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett, Lucianne Vandeleur, Raffaella Smith, Cheryl Shoubridge, Sarah Edkins, Claire Stevens,[...]. Nat Genet 2007
165
4

Translation is required to remove Y14 from mRNAs in the cytoplasm.
Josée Dostie, Gideon Dreyfuss. Curr Biol 2002
158
4

Chromosomal microarray versus karyotyping for prenatal diagnosis.
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
637
4

Diagnostic genome profiling in mental retardation.
Bert B A de Vries, Rolph Pfundt, Martijn Leisink, David A Koolen, Lisenka E L M Vissers, Irene M Janssen, Simon van Reijmersdal, Willy M Nillesen, Erik H L P G Huys, Nicole de Leeuw,[...]. Am J Hum Genet 2005
415
4

Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
4

Interstitial deletion of (17)(p11.2p11.2) in nine patients.
A C Smith, L McGavran, J Robinson, G Waldstein, J Macfarlane, J Zonona, J Reiss, M Lahr, L Allen, E Magenis. Am J Med Genet 1986
276
4

Copy number variation in schizophrenia in the Japanese population.
Masashi Ikeda, Branko Aleksic, George Kirov, Yoko Kinoshita, Yoshio Yamanouchi, Tsuyoshi Kitajima, Kunihiro Kawashima, Tomo Okochi, Taro Kishi, Irina Zaharieva,[...]. Biol Psychiatry 2010
89
4


Autism, language delay and mental retardation in a patient with 7q11 duplication.
C Depienne, D Heron, C Betancur, B Benyahia, O Trouillard, D Bouteiller, A Verloes, E LeGuern, M Leboyer, A Brice. J Med Genet 2007
64
6


Social interaction behaviors discriminate young children with autism and Williams syndrome.
Alan J Lincoln, Yvonne M Searcy, Wendy Jones, Catherine Lord. J Am Acad Child Adolesc Psychiatry 2007
57
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
4

Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.
Gene S Fisch, Paul Grossfeld, Rena Falk, Agatino Battaglia, Janey Youngblom, Richard Simensen. Am J Med Genet C Semin Med Genet 2010
23
17

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.
Olga Peñagarikano, Brett S Abrahams, Edward I Herman, Kellen D Winden, Amos Gdalyahu, Hongmei Dong, Lisa I Sonnenblick, Robin Gruver, Joel Almajano, Anatol Bragin,[...]. Cell 2011
554
4

Chromosome 2q37 deletion: clinical and molecular aspects.
Rena E Falk, Kari A Casas. Am J Med Genet C Semin Med Genet 2007
69
5

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes.
Stormy J Chamberlain, Pin-Fang Chen, Khong Y Ng, Fany Bourgois-Rocha, Fouad Lemtiri-Chlieh, Eric S Levine, Marc Lalande. Proc Natl Acad Sci U S A 2010
210
4

Cognitive and behavioral characterization of 16p11.2 deletion syndrome.
Ellen Hanson, Ramzi H Nasir, Alexa Fong, Alyss Lian, Rachel Hundley, Yiping Shen, Bai-Lin Wu, Ingrid A Holm, David T Miller. J Dev Behav Pediatr 2010
75
5

Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Martin J Somerville, Carolyn B Mervis, Edwin J Young, Eul-Ju Seo, Miguel del Campo, Stephen Bamforth, Ella Peregrine, Wayne Loo, Margaret Lilley, Luis A Pérez-Jurado,[...]. N Engl J Med 2005
203
4

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.
M-L Jacquemont, D Sanlaville, R Redon, O Raoul, V Cormier-Daire, S Lyonnet, J Amiel, M Le Merrer, D Heron, M-C de Blois,[...]. J Med Genet 2006
202
4

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Jonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, Sung-Hae L Kang, Chin-to Fong, Jessica Salamone, Debra Freedenberg, Vickie L Hannig, Lisa Albers Prock, David T Miller,[...]. Genet Med 2007
134
4

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
4

Pre-, peri- and neonatal risk factors for autism.
Vincent Guinchat, Poul Thorsen, Claudine Laurent, Christine Cans, Nicolas Bodeau, David Cohen. Acta Obstet Gynecol Scand 2012
129
4


Penetrance for copy number variants associated with schizophrenia.
Evangelos Vassos, David A Collier, Simon Holden, Christine Patch, Dan Rujescu, David St Clair, Cathryn M Lewis. Hum Mol Genet 2010
104
4

Lineage-specific gene duplication and loss in human and great ape evolution.
Andrew Fortna, Young Kim, Erik MacLaren, Kriste Marshall, Gretchen Hahn, Lynne Meltesen, Matthew Brenton, Raquel Hink, Sonya Burgers, Tina Hernandez-Boussard,[...]. PLoS Biol 2004
191
4

Human adaptation and evolution by segmental duplication.
Megan Y Dennis, Evan E Eichler. Curr Opin Genet Dev 2016
61
6


22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.
Tara L Wenger, Judith S Miller, Lauren M DePolo, Ashley B de Marchena, Caitlin C Clements, Beverly S Emanuel, Elaine H Zackai, Donna M McDonald-McGinn, Robert T Schultz. Mol Autism 2016
40
10

A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.
Kim Fejgin, Jacob Nielsen, Michelle R Birknow, Jesper F Bastlund, Vibeke Nielsen, Jes B Lauridsen, Hreinn Stefansson, Stacy Steinberg, Helge B D Sorensen, Troels E Mortensen,[...]. Biol Psychiatry 2014
65
6


Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo,[...]. PLoS Genet 2011
204
4

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
Heather C Mefford, Severine Clauin, Andrew J Sharp, Rikke S Moller, Reinhard Ullmann, Raj Kapur, Dan Pinkel, Gregory M Cooper, Mario Ventura, H Hilger Ropers,[...]. Am J Hum Genet 2007
174
4

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
Antje Brockschmidt, Boidinh Chung, Stefanie Weber, Dagmar-Christiane Fischer, Maria Kolatsi-Joannou, Laura Christ, André Heimbach, Diamant Shtiza, Günter Klaus, Giacomo D Simonetti,[...]. Nephrol Dial Transplant 2012
21
19

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Daw-Yang Hwang, Gabriel C Dworschak, Stefan Kohl, Pawaree Saisawat, Asaf Vivante, Alina C Hilger, Heiko M Reutter, Neveen A Soliman, Radovan Bogdanovic, Elijah O Kehinde,[...]. Kidney Int 2014
120
4

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
4

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Douglas M Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J Karczewski, David Kavanagh, Kaitlin E Samocha, Mark J Daly, Daniel G MacArthur, Menachem Fromer, Shaun M Purcell. Nat Genet 2016
107
4

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
4

The case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansion.
Jonathon G Keeney, Laura Dumas, James M Sikela. Front Hum Neurosci 2014
23
17

The human brain in numbers: a linearly scaled-up primate brain.
Suzana Herculano-Houzel. Front Hum Neurosci 2009
470
4


Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Ryan K C Yuen, Daniele Merico, Matt Bookman, Jennifer L Howe, Bhooma Thiruvahindrapuram, Rohan V Patel, Joe Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang,[...]. Nat Neurosci 2017
328
4

Phenotypic variability and genetic susceptibility to genomic disorders.
Santhosh Girirajan, Evan E Eichler. Hum Mol Genet 2010
184
4

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
Ivan Prokudin, Cas Simons, John R Grigg, Rebecca Storen, Vikrant Kumar, Zai Y Phua, James Smith, Maree Flaherty, Sonia Davila, Robyn V Jamieson. Eur J Hum Genet 2014
45
8

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
Ellen Hanson, Raphael Bernier, Ken Porche, Frank I Jackson, Robin P Goin-Kochel, LeeAnne Green Snyder, Anne V Snow, Arianne Stevens Wallace, Katherine L Campe, Yuan Zhang,[...]. Biol Psychiatry 2015
126
4

Copy number variations in neurodevelopmental disorders.
Hannah M Grayton, Cathy Fernandes, Dan Rujescu, David A Collier. Prog Neurobiol 2012
105
4

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Chelsea Lowther, Gregory Costain, Dimitri J Stavropoulos, Rebecca Melvin, Candice K Silversides, Danielle M Andrade, Joyce So, Hanna Faghfoury, Anath C Lionel, Christian R Marshall,[...]. Genet Med 2015
73
5

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Zhishuo Ou, Jonathan S Berg, Hagith Yonath, Victoria B Enciso, David T Miller, Jonathan Picker, Tiffanee Lenzi, Catherine E Keegan, Vernon R Sutton, John Belmont,[...]. Genet Med 2008
134
4


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.