A citation-based method for searching scientific literature

Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel-Hamid, Patricia Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. Nat Genet 2011
Times Cited: 778







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



Times Cited
  Times     Co-cited
Similarity


HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads.
Sergey Nurk, Brian P Walenz, Arang Rhie, Mitchell R Vollger, Glennis A Logsdon, Robert Grothe, Karen H Miga, Evan E Eichler, Adam M Phillippy, Sergey Koren. Genome Res 2020
26
3

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
Aaron M Wenger, Paul Peluso, William J Rowell, Pi-Chuan Chang, Richard J Hall, Gregory T Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D Olson,[...]. Nat Biotechnol 2019
180
1

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
114
1

Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 Deficiency Disorder.
I Barbiero, D Peroni, P Siniscalchi, L Rusconi, M Tramarin, R De Rosa, P Motta, M Bianchi, C Kilstrup-Nielsen. Neuropharmacology 2020
4
25

Mobile element insertion detection in 89,874 clinical exomes.
Rebecca I Torene, Kevin Galens, Shuxi Liu, Kevin Arvai, Carlos Borroto, Julie Scuffins, Zhancheng Zhang, Bethany Friedman, Hana Sroka, Jennifer Heeley,[...]. Genet Med 2020
2
50

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.
Ming Lei, Desheng Liang, Yifeng Yang, Satomi Mitsuhashi, Kazutaka Katoh, Noriko Miyake, Martin C Frith, Lingqian Wu, Naomichi Matsumoto. J Hum Genet 2020
6
16

Umap and Bismap: quantifying genome and methylome mappability.
Mehran Karimzadeh, Carl Ernst, Anshul Kundaje, Michael M Hoffman. Nucleic Acids Res 2018
25
4

Contribution of retrotransposition to developmental disorders.
Eugene J Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E Samocha, Juliet Handsaker, Sebastian S Gerety, Holly Ironfield, Patrick J Short, Alejandro Sifrim,[...]. Nat Commun 2019
9
11

Transduction of 3'-flanking sequences is common in L1 retrotransposition.
J L Goodier, E M Ostertag, H H Kazazian. Hum Mol Genet 2000
160
1

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration.
Helga Thorvaldsdóttir, James T Robinson, Jill P Mesirov. Brief Bioinform 2013
1

Selective Y centromere inactivation triggers chromosome shattering in micronuclei and repair by non-homologous end joining.
Peter Ly, Levi S Teitz, Dong H Kim, Ofer Shoshani, Helen Skaletsky, Daniele Fachinetti, David C Page, Don W Cleveland. Nat Cell Biol 2017
112
1

MLL translocations, histone modifications and leukaemia stem-cell development.
Andrei V Krivtsov, Scott A Armstrong. Nat Rev Cancer 2007
726
1

Mobile elements create structural variation: analysis of a complete human genome.
Jinchuan Xing, Yuhua Zhang, Kyudong Han, Abdel Halim Salem, Shurjo K Sen, Chad D Huff, Qiong Zhou, Ewen F Kirkness, Samuel Levy, Mark A Batzer,[...]. Genome Res 2009
189
1

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic.
Shilpa D Kadam, Brennan J Sullivan, Archita Goyal, Mary E Blue, Constance Smith-Hicks. Int J Mol Sci 2019
2
50

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.
Tiziano Pramparo, Salvatore Grosso, Jole Messa, Adriana Zatterale, Maria Clara Bonaglia, Luciana Chessa, Paolo Balestri, Mariano Rocchi, Orsetta Zuffardi, Roberto Giorda. Hum Genet 2005
20
5

Epilepsy and developmental disorders: Next generation sequencing in the clinic.
Joseph D Symonds, Amy McTague. Eur J Paediatr Neurol 2020
14
7

Multiple fates of L1 retrotransposition intermediates in cultured human cells.
Nicolas Gilbert, Sheila Lutz, Tammy A Morrish, John V Moran. Mol Cell Biol 2005
184
1

Variant Review with the Integrative Genomics Viewer.
James T Robinson, Helga Thorvaldsdóttir, Aaron M Wenger, Ahmet Zehir, Jill P Mesirov. Cancer Res 2017
209
1

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Morasha Plesser Duvdevani, Maria Pettersson, Jesper Eisfeldt, Ortal Avraham, Judith Dagan, Ayala Frumkin, James R Lupski, Anna Lindstrand, Tamar Harel. Am J Med Genet A 2020
2
50

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism.
Pasquale Striano, Maurizio Elia, Lucia Castiglia, Ornella Galesi, Sabina Pelligra, Salvatore Striano. Epilepsia 2005
8
12

Mapping and phasing of structural variation in patient genomes using nanopore sequencing.
Mircea Cretu Stancu, Markus J van Roosmalen, Ivo Renkens, Marleen M Nieboer, Sjors Middelkamp, Joep de Ligt, Giulia Pregno, Daniela Giachino, Giorgia Mandrile, Jose Espejo Valle-Inclan,[...]. Nat Commun 2017
115
1

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Alba Sanchis-Juan, Jonathan Stephens, Courtney E French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst,[...]. Genome Med 2018
35
2

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.
Alexandra N Khristich, Sergei M Mirkin. J Biol Chem 2020
31
3

Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China.
Li-Hong Liao, Chen Chen, Jing Peng, Li-Wen Wu, Fang He, Li-Fen Yang, Ci-Liu Zhang, Guo-Li Wang, Pan Peng, Yu-Ping Ma,[...]. Chin Med J (Engl) 2019
3
33

The SWI/SNF complex and cancer.
D Reisman, S Glaros, E A Thompson. Oncogene 2009
382
1

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Samin A Sajan, Liliana Fernandez, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L Christian, Jean-Baptiste Rivière, Christopher T Sullivan, Jyotsna Sudi,[...]. PLoS Genet 2013
44
2

How does the corpus callosum mediate interhemispheric transfer? A review.
Lisette J van der Knaap, Ineke J M van der Ham. Behav Brain Res 2011
204
1

[Agenesis of the corpus callosum].
J M Lieb, F J Ahlhelm. Radiologe 2018
1
100

Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum.
Mitesh Shetty, Ambika Srikanth, Jayarama Kadandale, Sridevi Hegde. Mol Syndromol 2015
2
50

Loss of function of SWI/SNF chromatin remodeling genes leads to genome instability of human lung cancer.
Hai-Tao Huang, Shao-Mu Chen, Liang-Bin Pan, Jie Yao, Hai-Tao Ma. Oncol Rep 2015
26
3

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F Hoffmann, Heinz Jungbluth, Mustafa Sahin. Brain 2016
69
1

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy.
Takuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, Daisuke Tanaka, Hitoshi Osaka, Hirotomo Saitsu. J Hum Genet 2020
2
50

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.
Maria Francesca Bedeschi, Maria Clara Bonaglia, Rita Grasso, Alda Pellegri, Rosaria Rita Garghentino, Maria Amalia Battaglia, Anna Maria Panarisi, Maja Di Rocco, Umberto Balottin, Nereo Bresolin,[...]. Pediatr Neurol 2006
79
1

Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele,[...]. Eur J Hum Genet 2016
22
4

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
Solveig Heide, Boris Keren, Thierry Billette de Villemeur, Sandra Chantot-Bastaraud, Christel Depienne, Caroline Nava, Cyril Mignot, Aurélia Jacquette, Eric Fonteneau, Elodie Lejeune,[...]. J Pediatr 2017
11
9

Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case.
Indranil Dutta, Guruaribam Nilamani Sharma, Khungdombam Palin Singh. Indian J Plast Surg 2018
2
50

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Jessica X Chong, Viviana Caputo, Ian G Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti,[...]. Am J Hum Genet 2016
20
5

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Elizabeth J Bhoj, Dong Li, Margaret Harr, Shimon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, Maria J Guillen Sacoto, Karine Siquier-Pernet,[...]. Am J Hum Genet 2016
26
3

Corpus Callosum: Molecular Pathways in Mice and Human Dysgeneses.
Charles Raybaud. Neuroimaging Clin N Am 2019
2
50

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.
Minire Hasi, Bridgette Soileau, Courtney Sebold, Annice Hill, Daniel E Hale, Louise O'Donnell, Jannine D Cody. Hum Genet 2011
25
4


The ULK1 complex: sensing nutrient signals for autophagy activation.
Pui-Mun Wong, Cindy Puente, Ian G Ganley, Xuejun Jiang. Autophagy 2013
265
1


Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Alina Filatova, Linda K Rey, Marion B Lechler, Jörg Schaper, Maja Hempel, Renata Posmyk, Krzysztof Szczaluba, Gijs W E Santen, Dagmar Wieczorek, Ulrike A Nuber. Nat Commun 2019
5
20

Corpus callosum abnormalities: neuroradiological and clinical correlations.
Aqeela H Al-Hashim, Susan Blaser, Charles Raybaud, Daune MacGregor. Dev Med Child Neurol 2016
16
6

Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
Chayim Can Schell-Apacik, Kristina Wagner, Moritz Bihler, Birgit Ertl-Wagner, Uwe Heinrich, Eva Klopocki, Vera M Kalscheuer, Maximilian Muenke, Hubertus von Voss. Am J Med Genet A 2008
84
1

[Editorial: Medical ethics in medical care services].
P Kassab. AMB Rev Assoc Med Bras 1973
62
1

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.
Timothy J Edwards, Elliott H Sherr, A James Barkovich, Linda J Richards. Brain 2014
141
1


Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Tomoki Kosho, Yoko Imai, Yumiko Hibi-Ko, Tadashi Kaname, Kenji Naritomi, Hiroshi Kawame, Keiko Wakui,[...]. Nat Genet 2012
288
1


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.