A citation-based method for searching scientific literature

Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Azzarello-Burri, Frenny Sheth, Chaitanya Datar, Ishwar C Verma, Ratna Dua Puri, Marcella Zollino, Ruxandra Bachmann-Gagescu, Dunja Niedrist, Michael Papik, Joana Figueiro-Silva, Rahim Masood, Markus Zweier, Dennis Kraemer, Sharyn Lincoln, Lance Rodan, Sandrine Passemard, Séverine Drunat, Alain Verloes, Anselm H C Horn, Heinrich Sticht, Robert Steinfeld, Barbara Plecko, Beatrice Latal, Oskar Jenni, Reza Asadollahi, Anita Rauch. Genet Med 2019
Times Cited: 25







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



Times Cited
  Times     Co-cited
Similarity


Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.
Maja von der Hagen, Mark Pivarcsi, Juliane Liebe, Horst von Bernuth, Nataliya Didonato, Julia B Hennermann, Christoph Bührer, Dagmar Wieczorek, Angela M Kaindl. Dev Med Child Neurol 2014
106
24

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
24

Genomic and phenotypic delineation of congenital microcephaly.
Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M H Abdel-Salam, Maha S Zaki, Saeed Al Tala, Amal Alhashem, Ameen Softah, Mohammed Al-Owain,[...]. Genet Med 2019
42
24

Investigating microcephaly.
C Geoffrey Woods, Alasdair Parker. Arch Dis Child 2013
81
20

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
612
20

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
20

Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bertoli, Tiffany Busa, Berten Ceulemans,[...]. Hum Mutat 2018
26
16

The Genetics of Primary Microcephaly.
Divya Jayaraman, Byoung-Il Bae, Christopher A Walsh. Annu Rev Genomics Hum Genet 2018
98
16

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
16

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
H Darvish, S Esmaeeli-Nieh, G B Monajemi, M Mohseni, S Ghasemi-Firouzabadi, S S Abedini, I Bahman, P Jamali, S Azimi, F Mojahedi,[...]. J Med Genet 2010
67
16

Congenital microcephaly.
Diana Alcantara, Mark O'Driscoll. Am J Med Genet C Semin Med Genet 2014
80
16

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Jacquelyn Bond, Emma Roberts, Kelly Springell, Sofia B Lizarraga, Sheila Scott, Julie Higgins, Daniel J Hampshire, Ewan E Morrison, Gabriella F Leal, Elias O Silva,[...]. Nat Genet 2005
382
12

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
C A Tan, D del Gaudio, M A Dempsey, K Arndt, S Botes, A Reeder, S Das. Clin Genet 2014
12
25

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
12

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
Ganeshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, Lina Basel-Vanagaite, Danielle Gleason, R Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A Walsh. Am J Hum Genet 2009
95
12

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
328
12

Genetic heterogeneity in Pakistani microcephaly families.
M Sajid Hussain, S Marriam Bakhtiar, M Farooq, I Anjum, E Janzen, M Reza Toliat, H Eiberg, K W Kjaer, N Tommerup, A A Noegel,[...]. Clin Genet 2013
34
12


A developmental and genetic classification for malformations of cortical development: update 2012.
A James Barkovich, Renzo Guerrini, Ruben I Kuzniecky, Graeme D Jackson, William B Dobyns. Brain 2012
515
12

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
987
12

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Nadia Bahi-Buisson, Karine Poirier, Franck Fourniol, Yoann Saillour, Stéphanie Valence, Nicolas Lebrun, Marie Hully, Catherine Fallet Bianco, Nathalie Boddaert, Caroline Elie,[...]. Brain 2014
154
12


Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Patrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, Lennart F Johansson, Anthonie J van Essen, Johanna B G M Verheij, Hermine E Veenstra-Knol, Egbert J W Redeker, Marcel M A M Mannens, Morris A Swertz,[...]. BMC Med Genomics 2016
44
12

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Hala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard,[...]. J Med Genet 2020
8
37

Stem cell function and stress response are controlled by protein synthesis.
Sandra Blanco, Roberto Bandiera, Martyna Popis, Shobbir Hussain, Patrick Lombard, Jelena Aleksic, Abdulrahim Sajini, Hinal Tanna, Rosana Cortés-Garrido, Nikoletta Gkatza,[...]. Nature 2016
191
8

NIH Image to ImageJ: 25 years of image analysis.
Caroline A Schneider, Wayne S Rasband, Kevin W Eliceiri. Nat Methods 2012
8

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
8

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
8

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.
Pablo Cingolani, Adrian Platts, Le Lily Wang, Melissa Coon, Tung Nguyen, Luan Wang, Susan J Land, Xiangyi Lu, Douglas M Ruden. Fly (Austin) 2012
8

A new association between CDK5RAP2 microcephaly and congenital cataracts.
Ahmed Alfares, Ibtihal Alhufayti, Lamia Alsubaie, Mohammed Alowain, Rawan Almass, Majid Alfadhel, Namik Kaya, Wafaa Eyaid. Ann Hum Genet 2018
5
40

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
Alistair T Pagnamenta, Jennie E Murray, Grace Yoon, Elham Sadighi Akha, Victoria Harrison, Louise S Bicknell, Kaseem Ajilogba, Helen Stewart, Usha Kini, Jenny C Taylor,[...]. Am J Med Genet A 2012
28
8

CDK5RAP2 is a pericentriolar protein that functions in centrosomal attachment of the gamma-tubulin ring complex.
Ka-Wing Fong, Yuk-Kwan Choi, Jerome B Rattner, Robert Z Qi. Mol Biol Cell 2008
166
8

CDK5RAP2 functions in centrosome to spindle pole attachment and DNA damage response.
Alexis R Barr, John V Kilmartin, Fanni Gergely. J Cell Biol 2010
82
8

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Loubna Jouan, Bouchra Ouled Amar Bencheikh, Hussein Daoud, Alexandre Dionne-Laporte, Sylvia Dobrzeniecka, Dan Spiegelman, Daniel Rochefort, Pascale Hince, Anna Szuto, Maryse Lassonde,[...]. Eur J Hum Genet 2016
17
11

Genetic causes of microcephaly and lessons for neuronal development.
Edward C Gilmore, Christopher A Walsh. Wiley Interdiscip Rev Dev Biol 2013
140
8

Mutations in CDK5RAP2 cause Seckel syndrome.
Gökhan Yigit, Karen E Brown, Hülya Kayserili, Esther Pohl, Almuth Caliebe, Diana Zahnleiter, Elisabeth Rosser, Nina Bögershausen, Zehra Oya Uyguner, Umut Altunoglu,[...]. Mol Genet Genomic Med 2015
34
8

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.
Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl, Deborah J Morris-Rosendahl. Orphanet J Rare Dis 2013
20
10

Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies".
Sandrine Passemard, Franck Perez, Emilie Colin-Lemesre, Sowmyalakshmi Rasika, Pierre Gressens, Vincent El Ghouzzi. Prog Neurobiol 2017
18
11

Interhypothalamic adhesion: a series of 13 cases.
M T Whitehead, G Vezina. AJNR Am J Neuroradiol 2014
18
11

Genetic heterogeneity in Pakistani microcephaly families revisited.
I Ahmad, S M Baig, A R Abdulkareem, M S Hussain, I Sur, M R Toliat, G Nürnberg, N Dalibor, A Moawia, S S Waseem,[...]. Clin Genet 2017
15
13

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
8

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.
S E McCarthy, J Gillis, M Kramer, J Lihm, S Yoon, Y Berstein, M Mistry, P Pavlidis, R Solomon, E Ghiban,[...]. Mol Psychiatry 2014
231
8

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.
Else Eising, Amaia Carrion-Castillo, Arianna Vino, Edythe A Strand, Kathy J Jakielski, Thomas S Scerri, Michael S Hildebrand, Richard Webster, Alan Ma, Bernard Mazoyer,[...]. Mol Psychiatry 2019
51
8

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
8

CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
909
8

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
458
8

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
Jérémie Mortreux, Tiffany Busa, Dominique P Germain, Gwenaël Nadeau, Jacques Puechberty, Christine Coubes, Vincent Gatinois, Pierre Cacciagli, Yannis Duffourd, Jean-Marc Pinard,[...]. Eur J Hum Genet 2018
11
18

Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability.
Areerat Hnoonual, Potchanapond Graidist, Supika Kritsaneepaiboon, Pornprot Limprasert. Front Genet 2019
12
16

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
Katelynn M Wilton, Lauren B Gunderson, Linda Hasadsri, Christopher P Wood, Lisa A Schimmenti. Mol Genet Genomic Med 2020
7
28

Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in Drosophila.
Marieke Klein, Euginia L Singgih, Anne van Rens, Ditte Demontis, Anders D Børglum, Nina Roth Mota, Anna Castells-Nobau, Lambertus A Kiemeney, Han G Brunner, Alejandro Arias-Vasquez,[...]. Am J Psychiatry 2020
10
20


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.