A citation-based method for searching scientific literature

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
Times Cited: 46







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



Times Cited
  Times     Co-cited
Similarity


372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
Giuseppina Marseglia, Maria Rosaria Scordo, Chiara Pescucci, Genni Nannetti, Elisabetta Biagini, Valeria Scandurra, Francesca Gerundino, Alberto Magi, Matteo Benelli, Francesca Torricelli. Eur J Med Genet 2012
32
78

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
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,[...]. Nat Genet 2010
321
52

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
327
39

A forkhead-domain gene is mutated in a severe speech and language disorder.
C S Lai, S E Fisher, J A Hurst, F Vargha-Khadem, A P Monaco. Nature 2001
987
26

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
667
26


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
243
21

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
K Suphapeetiporn, C Srichomthong, V Shotelersuk. Clin Genet 2011
20
45

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
64

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
60

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
45

A functional genetic link between distinct developmental language disorders.
Sonja C Vernes, Dianne F Newbury, Brett S Abrahams, Laura Winchester, Jérôme Nicod, Matthias Groszer, Maricela Alarcón, Peter L Oliver, Kay E Davies, Daniel H Geschwind,[...]. N Engl J Med 2008
396
17

West syndrome in a patient with Schinzel-Giedion syndrome.
Fuyu Miyake, Yukiko Kuroda, Takuya Naruto, Ikuko Ohashi, Kyoko Takano, Kenji Kurosawa. J Child Neurol 2015
12
66

Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population.
Sergey A Kornilov, Natalia Rakhlin, Roman Koposov, Maria Lee, Carolyn Yrigollen, Ahmet Okay Caglayan, James S Magnuson, Shrikant Mane, Joseph T Chang, Elena L Grigorenko. Pediatrics 2016
19
42

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome.
Karen Buysse, Björn Menten, Ann Oostra, Sylvie Tavernier, Geert R Mortier, Frank Speleman. Am J Med Genet A 2008
25
28

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay.
Sonia Bouquillon, Joris Andrieux, Emilie Landais, Bénédicte Duban-Bedu, Françoise Boidein, Bruno Lenne, Louis Vallée, Teresinha Leal, Martine Doco-Fenzy, Bruno Delobel. Eur J Med Genet 2011
18
38

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
60
15

CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
Dianne F Newbury, Laura Winchester, Laura Addis, Silvia Paracchini, Lyn-Louise Buckingham, Ann Clark, Wendy Cohen, Hilary Cowie, Katharina Dworzynski, Andrea Everitt,[...]. Am J Hum Genet 2009
105
15

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
15

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Gaetan Lesca, Gabrielle Rudolf, Nadine Bruneau, Natalia Lozovaya, Audrey Labalme, Nadia Boutry-Kryza, Manal Salmi, Timur Tsintsadze, Laura Addis, Jacques Motte,[...]. Nat Genet 2013
249
15

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Julien Thevenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville,[...]. Eur J Hum Genet 2013
43
16

[Schinzel-Giedion syndrome: a new mutation in SETBP1].
V López-González, M R Domingo-Jiménez, L Burglen, M J Ballesta-Martínez, S Whalen, J A Piñero-Fernández, E Guillén-Navarro. An Pediatr (Barc) 2015
10
70

Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay.
Jannine D Cody, Courtney Sebold, Amtul Malik, Patricia Heard, Erika Carter, Analisa Crandall, Bridgette Soileau, Margaret Semrud-Clikeman, Catherine M Cody, L Jean Hardies,[...]. Am J Med Genet A 2007
27
22

Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.
Ilse Feenstra, Lisenka E L M Vissers, Mirjam Orsel, Ad Geurts van Kessel, Han G Brunner, Joris A Veltman, Conny M A van Ravenswaaij-Arts. Am J Med Genet A 2007
91
13

FOXP2 as a molecular window into speech and language.
Simon E Fisher, Constance Scharff. Trends Genet 2009
271
13

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
13

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
173
13

De novo mutations in moderate or severe intellectual disability.
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo,[...]. PLoS Genet 2014
230
13

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
31
19

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
50

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Xiaowei Sylvia Chen, Rose H Reader, Alexander Hoischen, Joris A Veltman, Nuala H Simpson, Clyde Francks, Dianne F Newbury, Simon E Fisher. Sci Rep 2017
43
13

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
50
10

SRPX2 mutations in disorders of language cortex and cognition.
Patrice Roll, Gabrielle Rudolf, Sandrine Pereira, Barbara Royer, Ingrid E Scheffer, Annick Massacrier, Maria-Paola Valenti, Nathalie Roeckel-Trevisiol, Sarah Jamali, Christophe Beclin,[...]. Hum Mol Genet 2006
181
10

DCDC2 is associated with reading disability and modulates neuronal development in the brain.
Haiying Meng, Shelley D Smith, Karl Hager, Matthew Held, Jonathan Liu, Richard K Olson, Bruce F Pennington, John C DeFries, Joel Gelernter, Thomas O'Reilly-Pol,[...]. Proc Natl Acad Sci U S A 2005
257
10

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
10

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
10

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Brian J O'Roak, Laura Vives, Wenqing Fu, Jarrett D Egertson, Ian B Stanaway, Ian G Phelps, Gemma Carvill, Akash Kumar, Choli Lee, Katy Ankenman,[...]. Science 2012
787
10

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
Brian J O'Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J Schwartz, Santhosh Girirajan, Emre Karakoc, Alexandra P Mackenzie, Sarah B Ng, Carl Baker,[...]. Nat Genet 2011
769
10

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Jennifer J S Laffin, Gordana Raca, Craig A Jackson, Edythe A Strand, Kathy J Jakielski, Lawrence D Shriberg. Genet Med 2012
39
12

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
R Nudel, N H Simpson, G Baird, A O'Hare, G Conti-Ramsden, P F Bolton, E R Hennessy, S M Ring, G Davey Smith, C Francks,[...]. Genes Brain Behav 2014
41
12


Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.
Pía Villanueva, Ron Nudel, Alexander Hoischen, María Angélica Fernández, Nuala H Simpson, Christian Gilissen, Rose H Reader, Lillian Jara, María Magdalena Echeverry, Clyde Francks,[...]. PLoS Genet 2015
27
18

Genome-wide screening for DNA variants associated with reading and language traits.
A Gialluisi, D F Newbury, E G Wilcutt, R K Olson, J C DeFries, W M Brandler, B F Pennington, S D Smith, T S Scerri, N H Simpson,[...]. Genes Brain Behav 2014
59
10

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
Amber Volk, Erin Conboy, Beverly Wical, Marc Patterson, Salman Kirmani. Mol Syndromol 2015
23
21

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

SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.
Rocco Piazza, Vera Magistroni, Sara Redaelli, Mario Mauri, Luca Massimino, Alessandro Sessa, Marco Peronaci, Maciej Lalowski, Rabah Soliymani, Caterina Mezzatesta,[...]. Nat Commun 2018
20
25

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
A Schinzel, F Binkert, D M Lillington, M Sands, R J Stocks, R H Lindenbaum, H Matthews, H Sheridan. J Med Genet 1991
32
12

Long-term survival in a patient with del(18)(q12.2q21.1).
Brad T Tinkle, Carol A Christianson, Elizabeth K Schorry, Thomas Webb, Robert J Hopkin. Am J Med Genet A 2003
20
20

Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
Jodi Marianne Lestner, Wui K Chong, Amaka Offiiah, Jonathan Kefas, Anthony M Vandersteen. Clin Dysmorphol 2012
9
44

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
33


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.