A citation-based method for searching scientific literature

Jasmine L F Fung, Mullin H C Yu, Shushu Huang, Claudia C Y Chung, Marcus C Y Chan, Sander Pajusalu, Christopher C Y Mak, Vivian C C Hui, Mandy H Y Tsang, Kit San Yeung, Monkol Lek, Brian H Y Chung. NPJ Genom Med 2020
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity



Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed,[...]. JAMA Pediatr 2017
146
50

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
203
50

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
132
50

Children with neurodevelopmental disorders and disabilities: a population-based study of healthcare service utilization using administrative data.
Rubab G Arim, Anton R Miller, Anne Guèvremont, Lucyna M Lach, Jamie C Brehaut, Dafna E Kohen. Dev Med Child Neurol 2017
25
50


Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan. Eur J Hum Genet 2018
51
50

Exome sequencing can improve diagnosis and alter patient management.
Tracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E Schaffer, Jesus Olvera, Vineet Bafna, Maha S Zaki, Ghada H Abdel-Salam,[...]. Sci Transl Med 2012
182
50

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Pia Zacher, Thomas Mayer, Frank Brandhoff, Tobias Bartolomaeus, Diana Le Duc, Martin Finzel, Anja Heinze, Susanne Horn, Chiara Klöckner, Gudrun Körber,[...]. Genet Med 2021
2
50

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.
Korinna Kochinke, Christiane Zweier, Bonnie Nijhof, Michaela Fenckova, Pavel Cizek, Frank Honti, Shivakumar Keerthikumar, Merel A W Oortveld, Tjitske Kleefstra, Jamie M Kramer,[...]. Am J Hum Genet 2016
130
50

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Olivier Quenez, Kevin Cassinari, Sophie Coutant, François Lecoquierre, Kilan Le Guennec, Stéphane Rousseau, Anne-Claire Richard, Stéphanie Vasseur, Emilie Bouvignies, Jacqueline Bou,[...]. Eur J Hum Genet 2021
8
50

"Is it going to hurt?": the impact of the diagnostic odyssey on children and their families.
Nikkola Carmichael, Judith Tsipis, Gail Windmueller, Leslie Mandel, Elicia Estrella. J Genet Couns 2015
47
50

Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Anne T Berg, Jason Coryell, Russell P Saneto, Zachary M Grinspan, John J Alexander, Mariana Kekis, Joseph E Sullivan, Elaine C Wirrell, Renée A Shellhaas, John R Mytinger,[...]. JAMA Pediatr 2017
74
50

The burden of genetic disease on inpatient care in a children's hospital.
Shawn E McCandless, Jeanne W Brunger, Suzanne B Cassidy. Am J Hum Genet 2004
117
50

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
115
50

Cost of epilepsy: a systematic review.
Adam Strzelczyk, Jens Peter Reese, Richard Dodel, Hajo M Hamer. Pharmacoeconomics 2008
139
50

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
31
50

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Glen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, Tamar I de Vries, Karen J Duran, Jasper J van der Smagt, Paulien A Terhal, Peter M van Hasselt, Hester Y Kroes, Nanda M Verhoeven-Duif,[...]. Genet Med 2016
104
50

Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department.
P Kumar, J Radhakrishnan, M A Chowdhary, P F Giampietro. Mayo Clin Proc 2001
36
50

Estimating the burden and economic impact of pediatric genetic disease.
Nina Gonzaludo, John W Belmont, Vladimir G Gainullin, Ryan J Taft. Genet Med 2019
22
50


Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock,[...]. Genet Med 2019
125
50

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.
Terry Vrijenhoek, Eline M Middelburg, Glen R Monroe, Koen L I van Gassen, Joost W Geenen, Anke M Hövels, Nine V Knoers, Hans Kristian Ploos van Amstel, Gerardus W J Frederix. Eur J Hum Genet 2018
26
50

Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study.
Kari Modalsli Aaberg, Nina Gunnes, Inger Johanne Bakken, Camilla Lund Søraas, Aleksander Berntsen, Per Magnus, Morten I Lossius, Camilla Stoltenberg, Richard Chin, Pål Surén. Pediatrics 2017
109
50

Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study.
P W Yoon, R S Olney, M J Khoury, W M Sappenfield, G F Chavez, D Taylor. Arch Pediatr Adolesc Med 1997
129
50

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
Ana Fernandez-Marmiesse, Sofia Gouveia, Maria L Couce. Curr Med Chem 2018
56
50

Clinical whole exome sequencing in child neurology practice.
Siddharth Srivastava, Julie S Cohen, Hilary Vernon, Kristin Barañano, Rebecca McClellan, Leila Jamal, SakkuBai Naidu, Ali Fatemi. Ann Neurol 2014
159
50

Systematic review of MRI findings in children with developmental delay or cognitive impairment.
Kara Murias, Andrea Moir, Kenneth Alexis Myers, Irene Liu, Xing-Chang Wei. Brain Dev 2017
10
50

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Eri Imagawa, Chihiro Ohba, Ichiro Kuki, Megumi Nukui, Atsushi Araki, Yoshio Makita,[...]. J Hum Genet 2015
42
50

Is MRI imaging in pediatric age totally safe? A critical reprisal.
Sergio Salerno, Claudio Granata, Marco Trapenese, Vittorio Cannata, Davide Curione, Maria Camilla Rossi Espagnet, Andrea Magistrelli, Paolo Tomà. Radiol Med 2018
11
50

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
641
50

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong. PLoS One 2016
31
50


The usefulness of whole-exome sequencing in routine clinical practice.
Alejandro Iglesias, Kwame Anyane-Yeboa, Julia Wynn, Ashley Wilson, Megan Truitt Cho, Edwin Guzman, Rebecca Sisson, Claire Egan, Wendy K Chung. Genet Med 2014
129
50

Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.
Jinliang Li, Kai Gao, Huifang Yan, Wenshu Xiangwei, Nana Liu, Tianshuang Wang, Han Xu, Zehong Lin, Han Xie, Jingmin Wang,[...]. Gene 2019
26
50

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
50

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.
Deborah Schofield, Luke Rynehart, Rupendra Shresthra, Susan M White, Zornitza Stark. Genet Med 2019
16
50

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Claudia C Y Chung, Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Mianne Lee, Steven L C Pei, Mullin H C Yu, Vivian C C Hui, Joshua C K Chan, Jeffrey F T Chau,[...]. Lancet Reg Health West Pac 2020
3
50

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sarah E Soden, Carol J Saunders, Laurel K Willig, Emily G Farrow, Laurie D Smith, Josh E Petrikin, Jean-Baptiste LePichon, Neil A Miller, Isabelle Thiffault, Darrell L Dinwiddie,[...]. Sci Transl Med 2014
319
50

Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Alexandre Fabre, Christine Martinez-Vinson, Olivier Goulet, Catherine Badens. Orphanet J Rare Dis 2013
35
50

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul, Ersin Sayar, Hilary Smith, Virginie Colomb, Nicolas Andre, Jean-Pierre Hugot,[...]. Am J Hum Genet 2012
87
50

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
Kymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, Hyun-Jun Nam, Matthew Mort, David N Cooper, Jonathan Sebat, Lilia M Iakoucheva, Sean D Mooney, Predrag Radivojac. Bioinformatics 2017
19
50

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
50

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Sterling C Eckard, Gillian I Rice, Alexandre Fabre, Catherine Badens, Elizabeth E Gray, Jane L Hartley, Yanick J Crow, Daniel B Stetson. Nat Immunol 2014
121
50

Identification and characterization of a human cDNA homologous to yeast SKI2.
S G Lee, I Lee, S H Park, C Kang, K Song. Genomics 1995
35
50


Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
David Bick, Pamela C Fraser, Michael F Gutzeit, Jeremy M Harris, Tina M Hambuch, Daniel C Helbling, Howard J Jacob, Juliet N Kersten, Steven R Leuthner, Thomas May,[...]. J Pediatr Genet 2017
36
50

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
Iddo Vardi, Ortal Barel, Michal Sperber, Michael Schvimer, Moran Nunberg, Michael Field, Jodie Ouahed, Dina Marek-Yagel, Lael Werner, Yael Haberman,[...]. Dig Dis Sci 2018
3
50


ClinVar at five years: Delivering on the promise.
Melissa J Landrum, Brandi L Kattman. Hum Mutat 2018
78
50


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.