A citation-based method for searching scientific literature

Aida M Bertoli-Avella, Christian Beetz, Najim Ameziane, Maria Eugenia Rocha, Pilar Guatibonza, Catarina Pereira, Maria Calvo, Natalia Herrera-Ordonez, Monica Segura-Castel, Dan Diego-Alvarez, Michal Zawada, Krishna K Kandaswamy, Martin Werber, Omid Paknia, Susan Zielske, Dimitar Ugrinovski, Gitte Warnack, Kapil Kampe, Marius-Ionuț Iurașcu, Claudia Cozma, Florian Vogel, Amal Alhashem, Jozef Hertecant, Aisha M Al-Shamsi, Abdulrahman Faiz Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Ahmed Alfares, Mohammed A Albalwi, Majid Alfadhel, Nouriya Abbas Al-Sannaa, Willie Reardon, Yasemin Alanay, Arndt Rolfs, Peter Bauer. Eur J Hum Genet 2021
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
176
50

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Courtney E French, Isabelle Delon, Helen Dolling, Alba Sanchis-Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo G Branco,[...]. Intensive Care Med 2019
56
33

Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J Arvai, Ruth Y Eberhardt, Giuseppe Gallone, Stefan H Lelieveld, Hilary C Martin, Jeremy F McRae,[...]. Nature 2020
36
33

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber,[...]. Eur J Hum Genet 2017
172
33

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Marija Dulovic-Mahlow, Joanne Trinh, Krishna Kumar Kandaswamy, Geir Julius Braathen, Nataliya Di Donato, Elisa Rahikkala, Skadi Beblo, Martin Werber, Victor Krajka, Øyvind L Busk,[...]. Am J Hum Genet 2019
12
33

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
150
33

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
33

ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
Salam Massadeh, Amal Alhashem, Ingrid M B H van de Laar, Fahad Alhabshan, Natalia Ordonez, Salem Alawbathani, Suliman Khan, Mohamed S Kabbani, Farah Chaikhouni, Atia Sheereen,[...]. Clin Genet 2020
3
66

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Yuh-Charn Lin, Marcello Niceta, Valentina Muto, Barbara Vona, Alistair T Pagnamenta, Reza Maroofian, Christian Beetz, Hermine van Duyvenvoorde, Maria Lisa Dentici, Peter Lauffer,[...]. Am J Hum Genet 2021
4
25

Chromosomal microarray versus karyotyping for prenatal diagnosis.
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
643
16

Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.
Diana W Bianchi, Lawrence D Platt, James D Goldberg, Alfred Z Abuhamad, Amy J Sehnert, Richard P Rava. Obstet Gynecol 2012
451
16

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
190
16

Rapid whole genome sequencing and precision neonatology.
Joshua E Petrikin, Laurel K Willig, Laurie D Smith, Stephen F Kingsmore. Semin Perinatol 2015
99
16

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ozge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, Matthew S Lebo, Timothy W Yu, Shawn Fayer, Casie A Genetti, Talia S Schwartz, Pankaj B Agrawal, Richard B Parad,[...]. Am J Hum Genet 2019
55
16

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
46
16

The genetics of microdeletion and microduplication syndromes: an update.
Corey T Watson, Tomas Marques-Bonet, Andrew J Sharp, Heather C Mefford. Annu Rev Genomics Hum Genet 2014
78
16

Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissue.
Shavanthi Rajatileka, Karen Luyt, Manal El-Bokle, Maggie Williams, Helena Kemp, Elek Molnár, Anikó Váradi. BMC Genet 2013
16
16

Mastering genomic terminology.
Gail P Jarvik, James P Evans. Genet Med 2017
10
16

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K Ruzzo, Yi-Fan Lu, K Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi,[...]. Genet Med 2015
182
16

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Jason Homsy, Samir Zaidi, Yufeng Shen, James S Ware, Kaitlin E Samocha, Konrad J Karczewski, Steven R DePalma, David McKean, Hiroko Wakimoto, Josh Gorham,[...]. Science 2015
331
16

Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.
Monica H Wojcik, Talia S Schwartz, Inbar Yamin, Heather L Edward, Casie A Genetti, Meghan C Towne, Pankaj B Agrawal. Genet Med 2018
18
16

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Thomas A Cassini, Laura Duncan, Lynette C Rives, John H Newman, John A Phillips, Mary E Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan. Mol Genet Genomic Med 2019
10
16

Next-generation diagnostics: gene panel, exome, or whole genome?
Yu Sun, Claudia A L Ruivenkamp, Mariëtte J V Hoffer, Terry Vrijenhoek, Marjolein Kriek, Christi J van Asperen, Johan T den Dunnen, Gijs W E Santen. Hum Mutat 2015
79
16

Confined placental mosaicism and its impact on confirmation of NIPT results.
Anne Mardy, Ronald J Wapner. Am J Med Genet C Semin Med Genet 2016
29
16

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
16

Clinical integration of next generation sequencing: coverage and reimbursement challenges.
Patricia A Deverka, Jennifer C Dreyfus. J Law Med Ethics 2014
41
16

Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, David Johnson, Steven A Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey,[...]. J Med Genet 2017
62
16


Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
Jia Rao, Xiaorong Liu, Jianhua Mao, Xiaoshan Tang, Qian Shen, Guomin Li, Li Sun, Yunli Bi, Xiang Wang, Yanyan Qian,[...]. Clin Genet 2019
18
16

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
F Boemer, C Fasquelle, S d'Otreppe, C Josse, V Dideberg, K Segers, V Guissard, V Capraro, F G Debray, V Bours. Sci Rep 2017
10
16

De novo mutations in regulatory elements in neurodevelopmental disorders.
Patrick J Short, Jeremy F McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H Geschwind, Caroline F Wright, Helen V Firth, David R FitzPatrick, Jeffrey C Barrett,[...]. Nature 2018
95
16

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White. Genet Med 2019
59
16

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry,[...]. Nucleic Acids Res 2019
226
16

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Julie A Cakici, David P Dimmock, Sara A Caylor, Mary Gaughran, Christina Clarke, Cynthia Triplett, Michelle M Clark, Stephen F Kingsmore, Cinnamon S Bloss. Am J Hum Genet 2020
7
16

Genetic testing for kidney disease of unknown etiology.
Thomas Hays, Emily E Groopman, Ali G Gharavi. Kidney Int 2020
4
25

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis,[...]. Sci Transl Med 2012
366
16

Clinical sequencing: is WGS the better WES?
Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas. Hum Genet 2016
122
16


Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Hussein Daoud, Stephanie M Luco, Rui Li, Eric Bareke, Chandree Beaulieu, Olga Jarinova, Nancy Carson, Sarah M Nikkel, Gail E Graham, Julie Richer,[...]. CMAJ 2016
48
16

Genetic diagnosis in the fetus.
Monica H Wojcik, Rebecca Reimers, Tabitha Poorvu, Pankaj B Agrawal. J Perinatol 2020
2
50


Establishing the International Genetic Discrimination Observatory.
Yann Joly, Gratien Dalpé, Charles Dupras, Bénédicte Bévière-Boyer, Aisling de Paor, Edward S Dove, Palmira Granados Moreno, Calvin W L Ho, Chih-Hsing Ho, Katharina Ó Cathaoir,[...]. Nat Genet 2020
6
16

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S Mowlavi, Emily M Mayerhofer, David Tilstra, Timothy Vedder, Jesse M Hunter,[...]. Genet Med 2018
14
16

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
Ronald J Wapner, Joshua E Babiarz, Brynn Levy, Melissa Stosic, Bernhard Zimmermann, Styrmir Sigurjonsson, Nicholas Wayham, Allison Ryan, Milena Banjevic, Phil Lacroute,[...]. Am J Obstet Gynecol 2015
170
16

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
David P Dimmock, Michelle M Clark, Mary Gaughran, Julie A Cakici, Sara A Caylor, Christina Clarke, Michele Feddock, Shimul Chowdhury, Lisa Salz, Cynthia Cheung,[...]. Am J Hum Genet 2020
9
16

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Josh E Petrikin, Julie A Cakici, Michelle M Clark, Laurel K Willig, Nathaly M Sweeney, Emily G Farrow, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Lee Zellmer,[...]. NPJ Genom Med 2018
72
16

Quantifying the contribution of recessive coding variation to developmental disorders.
Hilary C Martin, Wendy D Jones, Rebecca McIntyre, Gabriela Sanchez-Andrade, Mark Sanderson, James D Stephenson, Carla P Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger,[...]. Science 2018
56
16

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Michelle M Clark, Amber Hildreth, Sergey Batalov, Yan Ding, Shimul Chowdhury, Kelly Watkins, Katarzyna Ellsworth, Brandon Camp, Cyrielle I Kint, Calum Yacoubian,[...]. Sci Transl Med 2019
67
16

Is there a duty to reinterpret genetic data? The ethical dimensions.
Paul S Appelbaum, Erik Parens, Sara M Berger, Wendy K Chung, Wylie Burke. Genet Med 2020
13
16

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Stephen F Kingsmore, Julie A Cakici, Michelle M Clark, Mary Gaughran, Michele Feddock, Sergey Batalov, Matthew N Bainbridge, Jeanne Carroll, Sara A Caylor, Christina Clarke,[...]. Am J Hum Genet 2019
63
16


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.