A citation-based method for searching scientific literature

Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S Reuter, Bhooma Thiruvahindrapuram, Brett Trost, Wilson W L Sung, Ryan K C Yuen, David Chitayat, Roberto Mendoza-Londono, D James Stavropoulos, Stephen W Scherer, Christian R Marshall, Ronald D Cohn, Eyal Cohen, Julia Orkin, M Stephen Meyn, Robin Z Hayeems. JAMA Netw Open 2020
Times Cited: 6







List of co-cited articles
6 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

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
50

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
136
33

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
433
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

Predicting Splicing from Primary Sequence with Deep Learning.
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F McRae, Siavash Fazel Darbandi, David Knowles, Yang I Li, Jack A Kosmicki, Juan Arbelaez, Wenwu Cui, Grace B Schwartz,[...]. Cell 2019
276
33

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K C Yuen, Michael J Szego,[...]. NPJ Genom Med 2016
165
16

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.
Ali Dursun, Safak Gucer, M S Ebberink, Sule Yigit, R J A Wanders, H R Waterham. J Inherit Metab Dis 2009
11
16

Peroxisome biogenesis disorders.
Steven J Steinberg, Gabriele Dodt, Gerald V Raymond, Nancy E Braverman, Ann B Moser, Hugo W Moser. Biochim Biophys Acta 2006
317
16

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
16

Using ERDS to infer copy-number variants in high-coverage genomes.
Mingfu Zhu, Anna C Need, Yujun Han, Dongliang Ge, Jessica M Maia, Qianqian Zhu, Erin L Heinzen, Elizabeth T Cirulli, Kimberly Pelak, Min He,[...]. Am J Hum Genet 2012
69
16

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.
Kathrine Bjørgo, Roar Fjær, Hanne Håberg Mørk, Sacha Ferdinandusse, Kim D Falkenberg, Hans R Waterham, Ane-Marte Øye, Alma Sikiric, Silja Svanstrøm Amundsen, Mari Ann Kulseth,[...]. Mol Genet Metab 2017
3
33

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
462
16



Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.
C Maxit, I Denzler, D Marchione, G Agosta, J Koster, R J A Wanders, S Ferdinandusse, H R Waterham. JIMD Rep 2017
2
50

Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.
A Poulos, J Christodoulou, C W Chow, J Goldblatt, B C Paton, T Orii, Y Suzuki, N Shimozawa. J Pediatr 1995
46
16

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
A C Muntau, P U Mayerhofer, B C Paton, S Kammerer, A A Roscher. Am J Hum Genet 2000
68
16

Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.
Shuji Matsui, Masuko Funahashi, Ayako Honda, Nobuyuki Shimozawa. Brain Dev 2013
15
16

Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures.
N Shimozawa, Y Suzuki, Z Zhang, A Imamura, K Ghaedi, Y Fujiki, N Kondo. Hum Mol Genet 2000
52
16

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.
Nobuyuki Shimozawa, Toshiro Tsukamoto, Tomoko Nagase, Yasuhiko Takemoto, Naoki Koyama, Yasuyuki Suzuki, Masayuki Komori, Takashi Osumi, Gootjes Jeannette, Ronald J A Wanders,[...]. Hum Mutat 2004
55
16

Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes.
Minoru Nakayama, Hiroyasu Sato, Takayuki Okuda, Nao Fujisawa, Nozomu Kono, Hiroyuki Arai, Emiko Suzuki, Masato Umeda, Hiroyuki O Ishikawa, Kenji Matsuno. PLoS One 2011
24
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

Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan.
Shigeo Takashima, Hirotomo Saitsu, Nobuyuki Shimozawa. J Hum Genet 2019
2
50

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

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Bo Yuan, Lei Wang, Pengfei Liu, Chad Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A Anderson, Linyan Meng, Xia Wang,[...]. Genet Med 2020
5
20

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.
Huilin Wang, Zirui Dong, Rui Zhang, Matthew Hoi Kin Chau, Zhenjun Yang, Kathy Yin Ching Tsang, Hoi Kin Wong, Baoheng Gui, Zhuo Meng, Kelin Xiao,[...]. Genet Med 2020
19
16

Application of exome sequencing for prenatal diagnosis: a rapid scoping review.
Misty Pratt, Chantelle Garritty, Micere Thuku, Leila Esmaeilisaraji, Candyce Hamel, Taila Hartley, Kathryn Millar, Becky Skidmore, Shelley Dougan, Christine M Armour. Genet Med 2020
4
25

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher P Barnett, Jason Pinner, Sarah A Sandaradura, Michael F Buckley, Emma I Krzesinski, Michelle G de Silva,[...]. JAMA 2020
26
16

Systematic analysis of copy-number variations associated with early pregnancy loss.
Y Wang, Y Li, Y Chen, R Zhou, Z Sang, L Meng, J Tan, F Qiao, Q Bao, D Luo,[...]. Ultrasound Obstet Gynecol 2020
10
16

Karyotype versus microarray testing for genetic abnormalities after stillbirth.
Uma M Reddy, Grier P Page, George R Saade, Robert M Silver, Vanessa R Thorsten, Corette B Parker, Halit Pinar, Marian Willinger, Barbara J Stoll, Josefine Heim-Hall,[...]. N Engl J Med 2012
140
16

Whole Exome Sequencing: Applications in Prenatal Genetics.
Angie C Jelin, Neeta Vora. Obstet Gynecol Clin North Am 2018
23
16


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 whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
16

Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys,[...]. Nature 2020
70
16

Sequencing of Circulating Cell-free DNA during Pregnancy.
Diana W Bianchi, Rossa W K Chiu. N Engl J Med 2018
98
16

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson,[...]. J Med Genet 2018
28
16

Detection of large-scale variation in the human genome.
A John Iafrate, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee. Nat Genet 2004
16

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly,[...]. Genet Med 2017
80
16

Low-pass genome sequencing: a validated method in clinical cytogenetics.
Matthew Hoi Kin Chau, Huilin Wang, Yunli Lai, Yanyan Zhang, Fuben Xu, Yanqing Tang, Yanfang Wang, Zihan Chen, Tak Yeung Leung, Jacqueline Pui Wah Chung,[...]. Hum Genet 2020
10
16

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype.
T Y Leung, I Vogel, T K Lau, W Chong, J A Hyett, O B Petersen, K W Choy. Ultrasound Obstet Gynecol 2011
80
16

Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.
Xin Yang, Lv-Yin Huang, Min Pan, Li-Li Xu, Li Zhen, Jin Han, Dong-Zhi Li. Prenat Diagn 2020
4
25

Targeted capture and massively parallel sequencing of 12 human exomes.
Sarah B Ng, Emily H Turner, Peggy D Robertson, Steven D Flygare, Abigail W Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E Eichler,[...]. Nature 2009
16


The use of chromosomal microarray for prenatal diagnosis.
Lorraine Dugoff, Mary E Norton, Jeffrey A Kuller. Am J Obstet Gynecol 2016
62
16

Genetics professionals' attitudes toward prenatal exome sequencing.
Casey E Brew, Brian A Castro, Vivian Pan, Alexa Hart, Bruce Blumberg, Catherine Wicklund. J Genet Couns 2019
5
20

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.
Thomas C Markello, Hannah Carlson-Donohoe, Murat Sincan, David Adams, David M Bodine, Jason E Farrar, Adrianna Vlachos, Jeffrey M Lipton, Arleen D Auerbach, Elaine A Ostrander,[...]. Mol Genet Metab 2012
13
16

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Amy Breman, Amber N Pursley, Patricia Hixson, Weimin Bi, Patricia Ward, Carlos A Bacino, Chad Shaw, James R Lupski, Arthur Beaudet, Ankita Patel,[...]. Prenat Diagn 2012
74
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.