A citation-based method for searching scientific literature

Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
Times Cited: 511







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



Times Cited
  Times     Co-cited
Similarity


Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
Xinyue Zhang, Yanqin You, Xiaoxiao Xie, Hong Xu, Honghui Zhou, Yuanmei Lei, Pei Sun, Yuanguang Meng, Longxia Wang, Yanping Lu. Mol Genet Genomic Med 2020
1
100

Outcome of fetuses with antenatally diagnosed short femur.
A T Papageorghiou, N Fratelli, K Leslie, A Bhide, B Thilaganathan. Ultrasound Obstet Gynecol 2008
41
2

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
Shagun Aggarwal, Venugopal Satidevi Vineeth, Aneek Das Bhowmik, Ashwani Tandon, Aditya Kulkarni, Dhanya Lakshmi Narayanan, Amrita Bhattacherjee, Ashwin Dalal. Prenat Diagn 2020
3
33

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
Gaber Bergant, Ales Maver, Luca Lovrecic, Goran Čuturilo, Alenka Hodzic, Borut Peterlin. Genet Med 2018
24
4

The phenotypic spectrum of COL2A1 mutations.
Gen Nishimura, Nobuhiko Haga, Hiroshi Kitoh, Yoko Tanaka, Toru Sonoda, Miho Kitamura, Shuya Shirahama, Taichi Itoh, Eiji Nakashima, Hirofumi Ohashi,[...]. Hum Mutat 2005
110
1

Clinical and radiographic delineation of odontochondrodysplasia.
Sheila Unger, Franco Antoniazzi, Milena Brugnara, Yasemin Alanay, Ahmet Caglayan, Katherine Lachlan, Shiro Ikegawa, Gen Nishimura, Bernhard Zabel, Jürgen Spranger,[...]. Am J Med Genet A 2008
15
6

Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing.
Kai Yang, Ming Shen, Yousheng Yan, Ya Tan, Jing Zhang, Jue Wu, Guangming Yang, Shang Li, Jing Wang, Zhuo Ren,[...]. Biomed Res Int 2019
14
7

Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies.
Patrick Kwan, Alexis Arzimanoglou, Anne T Berg, Martin J Brodie, W Allen Hauser, Gary Mathern, Solomon L Moshé, Emilio Perucca, Samuel Wiebe, Jacqueline French. Epilepsia 2010
1

Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Tommy Stödberg, Torbjörn Tomson, Michela Barbaro, Henrik Stranneheim, Britt-Marie Anderlid, Sofia Carlsson, Per Åmark, Anna Wedell. Epilepsia 2020
4
25

Epilepsy-associated genes.
Jie Wang, Zhi-Jian Lin, Liu Liu, Hai-Qing Xu, Yi-Wu Shi, Yong-Hong Yi, Na He, Wei-Ping Liao. Seizure 2017
115
1

The new definition and classification of seizures and epilepsy.
Jessica J Falco-Walter, Ingrid E Scheffer, Robert S Fisher. Epilepsy Res 2018
70
1

Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy.
Yuichi Abe, Tetsuro Sakai, Akihisa Okumura, Shinjiro Akaboshi, Mitsumasa Fukuda, Kazuhiro Haginoya, Shin-Ichiro Hamano, Kouichi Hirano, Kenjiro Kikuchi, Masaya Kubota,[...]. Brain Dev 2016
6
16

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Jorune Balciuniene, Elizabeth T DeChene, Gozde Akgumus, Edward J Romasko, Kajia Cao, Holly A Dubbs, Surabhi Mulchandani, Nancy B Spinner, Laura K Conlin, Eric D Marsh,[...]. JAMA Netw Open 2019
15
6

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Anne Rochtus, Heather E Olson, Lacey Smith, Louisa G Keith, Christelle El Achkar, Alan Taylor, Sonal Mahida, Meredith Park, McKenna Kelly, Catherine Shain,[...]. Epilepsia 2020
18
5

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Analía Vega, Valeria Salinas, Josefina Perez-Maturo, Hernán Amartino, Cecilia Vásquez-Dusefante, Nancy Medina, Dolores González-Morón, Marcelo Andrés Kauffman. PLoS One 2018
27
3

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, Mohammed A El Etribi, Mahmoud Hemeda, Nevine El Nahhas, Ahmed M Gaber, Amal Fouad, Sherif Edris, Anna Benet-Pages,[...]. Brain 2013
40
2

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M White, Clara Gaff. Genet Med 2017
106
1

The contribution of next generation sequencing to epilepsy genetics.
Rikke S Møller, Hans A Dahl, Ingo Helbig. Expert Rev Mol Diagn 2015
31
3

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B McKenzie, Sarah E Buerki, Daniel M Evans, Eric B Toyota, Cyrus Boelman, Linda L Huh, Anita Datta,[...]. Front Neurol 2019
25
4

[Seizures associated with fever in children of congenital adrenal hyperplasia].
H Kawawaki, S Kusuda, H Kurimasa, K Tomiwa, R Murata. No To Hattatsu 2001
2
50

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Amanda S Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain-Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee A McKnight. Epilepsia 2018
82
1

Prevalence and incidence of epilepsy: A systematic review and meta-analysis of international studies.
Kirsten M Fiest, Khara M Sauro, Samuel Wiebe, Scott B Patten, Churl-Su Kwon, Jonathan Dykeman, Tamara Pringsheim, Diane L Lorenzetti, Nathalie Jetté. Neurology 2017
383
1

Epilepsy and developmental disorders: Next generation sequencing in the clinic.
Joseph D Symonds, Amy McTague. Eur J Paediatr Neurol 2020
17
5

The natural history and prognosis of epilepsy.
Ettore Beghi, Giorgia Giussani, Josemir W Sander. Epileptic Disord 2015
34
2

ILAE official report: a practical clinical definition of epilepsy.
Robert S Fisher, Carlos Acevedo, Alexis Arzimanoglou, Alicia Bogacz, J Helen Cross, Christian E Elger, Jerome Engel, Lars Forsgren, Jacqueline A French, Mike Glynn,[...]. Epilepsia 2014
1

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Andreas Zankl, Emma L Duncan, Paul J Leo, Graeme R Clark, Evgeny A Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno P Leheup, Jim McGill,[...]. Am J Hum Genet 2012
56
1


Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Cecilie Bredrup, Sophie Saunier, Machteld M Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine M Leh, Marit Midtbø, Emilie Filhol, Christine Bole-Feysot,[...]. Am J Hum Genet 2011
149
1

SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.
Jing Guan, Dayong Wang, Wenjian Cao, Yali Zhao, Renqian Du, Hu Yuan, Qiong Liu, Lan Lan, Liang Zong, Ju Yang,[...]. J Hum Genet 2016
9
11

Managing Bardet-Biedl Syndrome-Now and in the Future.
Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli, Philip L Beales. Front Pediatr 2018
44
2

VACTERL/VATER Association.
Benjamin D Solomon. Orphanet J Rare Dis 2011
186
1

Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT).
Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth. Eur J Med Genet 2014
18
5

SIX2 and BMP4 mutations associate with anomalous kidney development.
Stefanie Weber, Jaclyn C Taylor, Paul Winyard, Kari F Baker, Jessica Sullivan-Brown, Raphael Schild, Tanja Knüppel, Aleksandra M Zurowska, Alberto Caldas-Alfonso, Mieczyslaw Litwin,[...]. J Am Soc Nephrol 2008
136
1

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.
Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, Carmen Montoya, Reka Kovacs-Nagy, Matias Wagner, Thomas Meitinger, Julia Hoefele. Front Pediatr 2017
6
16

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Laurence Heidet, Vincent Morinière, Charline Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bole-Feysot, Patrick Nitschké,[...]. J Am Soc Nephrol 2017
43
2

Ciliopathies.
Friedhelm Hildebrandt, Thomas Benzing, Nicholas Katsanis. N Engl J Med 2011
808
1

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.
Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya. Indian J Ophthalmol 2016
24
4

Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Marta Romani, Alessia Micalizzi, Enza Maria Valente. Lancet Neurol 2013
182
1

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, Mythreyi Shastri, Hsan-jan Yen, John S Beck, Terry Braun, Luan M Streb, Alberto S Cornier, Gerald F Cox,[...]. Nat Genet 2002
233
1

5. Hereditary Kidney Disorders.
Ana Stavljenić-Rukavina. EJIFCC 2009
1
100

Signaling during Kidney Development.
Mirja Krause, Aleksandra Rak-Raszewska, Ilkka Pietilä, Susan E Quaggin, Seppo Vainio. Cells 2015
28
3

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Amelie T van der Ven, Asaf Vivante, Friedhelm Hildebrandt. J Am Soc Nephrol 2018
47
2

Demographics of paediatric renal replacement therapy in Europe: a report of the ESPN/ERA-EDTA registry.
Nicholas Chesnaye, Marjolein Bonthuis, Franz Schaefer, Jaap W Groothoff, Enrico Verrina, James G Heaf, Augustina Jankauskiene, Viktorija Lukosiene, Elena A Molchanova, Conceicao Mota,[...]. Pediatr Nephrol 2014
66
1

Exploring the genetic basis of early-onset chronic kidney disease.
Asaf Vivante, Friedhelm Hildebrandt. Nat Rev Nephrol 2016
132
1


Congenital anomalies of kidney and hand: a review.
Gopalakrishnan Natarajan, Dhanapriya Jeyachandran, Bala Subramaniyan, Dineshkumar Thanigachalam, Arul Rajagopalan. Clin Kidney J 2013
9
11

Six2 defines and regulates a multipotent self-renewing nephron progenitor population throughout mammalian kidney development.
Akio Kobayashi, M Todd Valerius, Joshua W Mugford, Thomas J Carroll, Michelle Self, Guillermo Oliver, Andrew P McMahon. Cell Stem Cell 2008
567
1

SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.
Alina Henn, Harald Weng, Simon Novak, Günther Rettenberger, Andreas Gerhardinger, Eva Rossier, Birgit Zirn. Clin Dysmorphol 2018
7
14

Epidemiology of chronic kidney disease in children.
Jérôme Harambat, Karlijn J van Stralen, Jon Jin Kim, E Jane Tizard. Pediatr Nephrol 2012
362
1

Epidemiology and Outcomes of Cardiac Arrest in Pediatric Cardiac ICUs.
Jeffrey A Alten, Darren Klugman, Tia T Raymond, David S Cooper, Janet E Donohue, Wenying Zhang, Sara K Pasquali, Michael G Gaies. Pediatr Crit Care Med 2017
44
2


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.