A citation-based method for searching scientific literature

Alexander Hoischen, Bregje W M van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koen Devriendt, Marta Z Amorim, Nicole Revencu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian M Hayes, Elizabeth M Thompson, Han G Brunner, Bert B A de Vries, Joris A Veltman. Nat Genet 2010
Times Cited: 318







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



Times Cited
  Times     Co-cited
Similarity


Somatic SETBP1 mutations in myeloid malignancies.
Hideki Makishima, Kenichi Yoshida, Nhu Nguyen, Bartlomiej Przychodzen, Masashi Sanada, Yusuke Okuno, Kwok Peng Ng, Kristbjorn O Gudmundsson, Bandana A Vishwakarma, Andres Jerez,[...]. Nat Genet 2013
170
25

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
Rocco Piazza, Simona Valletta, Nils Winkelmann, Sara Redaelli, Roberta Spinelli, Alessandra Pirola, Laura Antolini, Luca Mologni, Carla Donadoni, Elli Papaemmanuil,[...]. Nat Genet 2013
239
25


Exome sequencing identifies the cause of a mendelian disorder.
Sarah B Ng, Kati J Buckingham, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson,[...]. Nat Genet 2010
19

SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia.
Ion Cristóbal, Francisco J Blanco, Laura Garcia-Orti, Nerea Marcotegui, Carmen Vicente, José Rifon, Francisco J Novo, Eva Bandres, María J Calasanz, Carmelo Bernabeu,[...]. Blood 2010
107
18

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Sarah B Ng, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Margaret J McMillin, Heidi I Gildersleeve, Anita E Beck, Holly K Tabor, Gregory M Cooper, Heather C Mefford,[...]. Nat Genet 2010
827
16

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
K Suphapeetiporn, C Srichomthong, V Shotelersuk. Clin Genet 2011
20
70

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
955
14

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
Isabel Filges, Keiko Shimojima, Nobuhiko Okamoto, Benno Röthlisberger, Peter Weber, Andreas R Huber, Tsutomu Nishizawa, Alexandre N Datta, Peter Miny, Toshiyuki Yamamoto. J Med Genet 2011
46
30

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
14

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.
Anna M Lehman, Deborah McFadden, Denise Pugash, Karan Sangha, William T Gibson, Millan S Patel. Am J Med Genet A 2008
30
43

Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
Jung Min Ko, Byung Chan Lim, Ki Joong Kim, Yong Seung Hwang, Hye Won Ryu, Jung Ho Lee, Jon Su Kim, Jong-Hee Chae. Childs Nerv Syst 2013
20
60

SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias.
F Damm, R Itzykson, O Kosmider, N Droin, A Renneville, V Chesnais, V Gelsi-Boyer, S de Botton, N Vey, C Preudhomme,[...]. Leukemia 2013
86
13

Targeted capture and massively parallel sequencing of 12 human exomes.
Sarah B Ng, Emily H Turner, Peggy D Robertson, Steven D Flygare, Abigail W Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E Eichler,[...]. Nature 2009
12

Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Akihito Takeuchi, Nobuhiko Okamoto, Shoko Fujinaga, Hirosuke Morita, Junya Shimizu, Tomoyuki Akiyama, Shinsuke Ninomiya, Jun-ichi Takanashi, Toshihide Kubo. Eur J Med Genet 2015
15
80

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
12

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
Hirotoshi Sakaguchi, Yusuke Okuno, Hideki Muramatsu, Kenichi Yoshida, Yuichi Shiraishi, Mariko Takahashi, Ayana Kon, Masashi Sanada, Kenichi Chiba, Hiroko Tanaka,[...]. Nat Genet 2013
148
11

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
11

SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
M Meggendorfer, U Bacher, T Alpermann, C Haferlach, W Kern, C Gambacorti-Passerini, T Haferlach, S Schnittger. Leukemia 2013
111
11

A de novo paradigm for mental retardation.
Lisenka E L M Vissers, Joep de Ligt, Christian Gilissen, Irene Janssen, Marloes Steehouwer, Petra de Vries, Bart van Lier, Peer Arts, Nienke Wieskamp, Marisol del Rosario,[...]. Nat Genet 2010
540
11

Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.
M Minakuchi, N Kakazu, M J Gorrin-Rivas, T Abe, T D Copeland, K Ueda, Y Adachi. Eur J Biochem 2001
58
17

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
617
10

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Alexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, Christian Gilissen, Lisenka E L M Vissers, Petra de Vries, Irene Janssen, Bart van Lier, Rob Hastings, Sarah F Smithson,[...]. Nat Genet 2011
165
10

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
653
10

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
10

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
Ellaine Carvalho, Rachel Honjo, Monize Magalhães, Guilherme Yamamoto, Katia Rocha, Michel Naslavsky, Mayana Zatz, Maria Rita Passos-Bueno, Chong Kim, Debora Bertola. Am J Med Genet A 2015
14
71

Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10.
Kevin Oakley, Yufen Han, Bandana A Vishwakarma, Su Chu, Ravi Bhatia, Kristbjorn O Gudmundsson, Jonathan Keller, Xiongfong Chen, Vasyl Vasko, Nancy A Jenkins,[...]. Blood 2012
49
18


SETBP1 mutation analysis in 944 patients with MDS and AML.
F Thol, K J Suchanek, C Koenecke, M Stadler, U Platzbecker, C Thiede, T Schroeder, G Kobbe, S Kade, P Löffeld,[...]. Leukemia 2013
53
16

De novo mutations in human genetic disease.
Joris A Veltman, Han G Brunner. Nat Rev Genet 2012
435
9

De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
906
9

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
Yvan Herenger, Corinne Stoetzel, Elise Schaefer, Sophie Scheidecker, Marie-Cécile Manière, Valérie Pelletier, Yves Alembik, Dominique Christmann, Jean-Michel Clavert, Joelle Terzic,[...]. Eur J Med Genet 2015
12
75

Sacral tumors in Schinzel-Giedion syndrome.
E McPherson, M Clemens, L Hoffner, U Surti. Am J Med Genet 1998
19
42

SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML.
R R Laborde, M M Patnaik, T L Lasho, C M Finke, C A Hanson, R A Knudson, R P Ketterling, A Pardanani, A Tefferi. Leukemia 2013
67
11

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
8

Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.
Hsin-An Hou, Yuan-Yeh Kuo, Jih-Luh Tang, Wen-Chien Chou, Ming Yao, Yan-Jun Lai, Chien-Chin Lin, Chien-Yuan Chen, Chieh-Yu Liu, Mei-Hsuan Tseng,[...]. Am J Hematol 2014
48
16

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel,[...]. PLoS Genet 2017
15
53

Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy.
Shuei Watanabe, Akitoshi Murayama, Kazuhiro Haginoya, Soichiro Tanaka, Noriko Togashi, Daiki Abukawa, Atsushi Sato, Masue Imaizumi, Hideto Yoshikawa, Rumiko Takayama,[...]. Brain Dev 2012
12
58

New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.
N H Robin, K Grace, T G DeSouza, D McDonald-McGinn, E H Zackai. Am J Med Genet 1993
31
22

Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome.
Fumi Matsumoto, Akira Tohda, Kenji Shimada, Nobuhiko Okamoto. Int J Urol 2005
12
58

Schinzel-Giedion syndrome with sacrococcygeal teratoma.
Alessandro Sandri, Andrea Domenco Manazza, Daniele Bertin, Margherita Silengo, Maria Eleonora Basso, Marco Forni, Enrico Madon. J Pediatr Hematol Oncol 2003
16
43

Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome.
Rudi Beschorner, Manfred Wehrmann, Ulrike Ernemann, Michael Bonin, Veronka Horber, Barbara Oehl-Jaschkowitz, Richard Meyermann, Andreas Dufke. Acta Neuropathol 2007
24
29

CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia.
A Pardanani, T L Lasho, R R Laborde, M Elliott, C A Hanson, R A Knudson, R P Ketterling, J E Maxson, J W Tyner, A Tefferi. Leukemia 2013
157
7

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
Marta Fernandez-Mercado, Andrea Pellagatti, Cristina Di Genua, Maria Jose Larrayoz, Nils Winkelmann, Paula Aranaz, Adam Burns, Anna Schuh, Maria Jose Calasanz, Nicholas C P Cross,[...]. Br J Haematol 2013
33
21

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
7

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Christian Gilissen, Heleen H Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G Kant,[...]. Am J Hum Genet 2010
212
7

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
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

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
Kym M Boycott, Megan R Vanstone, Dennis E Bulman, Alex E MacKenzie. Nat Rev Genet 2013
412
7

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.
Rocio Acuna-Hidalgo, Tan Bo, Michael P Kwint, Maartje van de Vorst, Michele Pinelli, Joris A Veltman, Alexander Hoischen, Lisenka E L M Vissers, Christian Gilissen. Am J Hum Genet 2015
125
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.