Kwong Wai Choy, Huilin Wang, Mengmeng Shi, Jingsi Chen, Zhenjun Yang, Rui Zhang, Huanchen Yan, Yanfang Wang, Shaoyun Chen, Matthew Hoi Kin Chau, Ye Cao, Olivia Y M Chan, Yvonne K Kwok, Yuanfang Zhu, Min Chen, Tak Yeung Leung, Zirui Dong. Front Genet 2019
Times Cited: 30
Times Cited: 30
Times Cited
Times Co-cited
Similarity
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
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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
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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
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Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.
Zirui Dong, Jun Zhang, Ping Hu, Haixiao Chen, Jinjin Xu, Qi Tian, Lu Meng, Yanchou Ye, Jun Wang, Meiyan Zhang,[...]. Genet Med 2016
Zirui Dong, Jun Zhang, Ping Hu, Haixiao Chen, Jinjin Xu, Qi Tian, Lu Meng, Yanchou Ye, Jun Wang, Meiyan Zhang,[...]. Genet Med 2016
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Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola. Genet Med 2017
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Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.
Matthew Hoi Kin Chau, Ye Cao, Yvonne Ka Yin Kwok, Samantha Chan, Yiu Man Chan, Huilin Wang, Zhenjun Yang, Hoi Kin Wong, Tak Yeung Leung, Kwong Wai Choy. Am J Obstet Gynecol 2019
Matthew Hoi Kin Chau, Ye Cao, Yvonne Ka Yin Kwok, Samantha Chan, Yiu Man Chan, Huilin Wang, Zhenjun Yang, Hoi Kin Wong, Tak Yeung Leung, Kwong Wai Choy. Am J Obstet Gynecol 2019
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Elizabeth A Normand, Alicia Braxton, Salma Nassef, Patricia A Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E Westerfield, Samantha Stover,[...]. Genome Med 2018
Elizabeth A Normand, Alicia Braxton, Salma Nassef, Patricia A Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E Westerfield, Samantha Stover,[...]. Genome Med 2018
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Fetal exome sequencing: yield and limitations in a tertiary referral center.
H Daum, V Meiner, O Elpeleg, T Harel. Ultrasound Obstet Gynecol 2019
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Promises, pitfalls and practicalities of prenatal whole exome sequencing.
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty. Prenat Diagn 2018
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty. Prenat Diagn 2018
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Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Suzanne Drury, Hywel Williams, Natalie Trump, Christopher Boustred, Nicholas Lench, Richard H Scott, Lyn S Chitty. Prenat Diagn 2015
Suzanne Drury, Hywel Williams, Natalie Trump, Christopher Boustred, Nicholas Lench, Richard H Scott, Lyn S Chitty. Prenat Diagn 2015
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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
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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
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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
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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
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The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG).
Kristin G Monaghan, Natalia T Leach, Dawn Pekarek, Priya Prasad, Nancy C Rose. Genet Med 2020
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Prenatal diagnosis by chromosomal microarray analysis.
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Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Teresa N Sparks, Billie R Lianoglou, Rebecca R Adami, Ilina D Pluym, Kerry Holliman, Jennifer Duffy, Sarah L Downum, Sachi Patel, Amanda Faubel, Nina M Boe,[...]. N Engl J Med 2020
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Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Michael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, Carol B Benson, Ian Blumenthal, Susan Connolly, Carrie Hanscom, Naveed Hussain, Shahrin Pereira, Jonathan Picker,[...]. N Engl J Med 2012
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Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?
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Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.
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Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty. Genet Med 2018
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Jonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla. Prenat Diagn 2013
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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
Xin Yang, Lv-Yin Huang, Min Pan, Li-Li Xu, Li Zhen, Jin Han, Dong-Zhi Li. Prenat Diagn 2020
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Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology.
Shuya Xue, Huanchen Yan, Jingsi Chen, Nan Li, Jiayan Wang, Yu Liu, Huimin Zhang, Shaoying Li, Wei Zhang, Dunjin Chen,[...]. Cytogenet Genome Res 2020
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Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.
Zirui Dong, Huilin Wang, Haixiao Chen, Hui Jiang, Jianying Yuan, Zhenjun Yang, Wen-Jing Wang, Fengping Xu, Xiaosen Guo, Ye Cao,[...]. Genet Med 2018
Zirui Dong, Huilin Wang, Haixiao Chen, Hui Jiang, Jianying Yuan, Zhenjun Yang, Wen-Jing Wang, Fengping Xu, Xiaosen Guo, Ye Cao,[...]. Genet Med 2018
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Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Keren J Carss, Sarah C Hillman, Vijaya Parthiban, Dominic J McMullan, Eamonn R Maher, Mark D Kilby, Matthew E Hurles. Hum Mol Genet 2014
Keren J Carss, Sarah C Hillman, Vijaya Parthiban, Dominic J McMullan, Eamonn R Maher, Mark D Kilby, Matthew E Hurles. Hum Mol Genet 2014
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Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing.
Jing Wang, Lin Chen, Cong Zhou, Li Wang, Hanbing Xie, Yuanyuan Xiao, Hongmei Zhu, Ting Hu, Zhu Zhang, Qian Zhu,[...]. Am J Obstet Gynecol 2018
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An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Neeta L Vora, Kelly Gilmore, Alicia Brandt, Chelsea Gustafson, Natasha Strande, Lori Ramkissoon, Emily Hardisty, Ann Katherine M Foreman, Kirk Wilhelmsen, Phillips Owen,[...]. Genet Med 2020
Neeta L Vora, Kelly Gilmore, Alicia Brandt, Chelsea Gustafson, Natasha Strande, Lori Ramkissoon, Emily Hardisty, Ann Katherine M Foreman, Kirk Wilhelmsen, Phillips Owen,[...]. Genet Med 2020
22
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Elizabeth Quinlan-Jones, Jenny Lord, Denise Williams, Sue Hamilton, Tamas Marton, Ruth Y Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic J McMullan,[...]. Genet Med 2019
Elizabeth Quinlan-Jones, Jenny Lord, Denise Williams, Sue Hamilton, Tamas Marton, Ruth Y Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic J McMullan,[...]. Genet Med 2019
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Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency.
P Sinajon, D Chitayat, M Roifman, S Wasim, S Carmona, G Ryan, A Noor, E Kolomietz, K Chong. Ultrasound Obstet Gynecol 2020
P Sinajon, D Chitayat, M Roifman, S Wasim, S Carmona, G Ryan, A Noor, E Kolomietz, K Chong. Ultrasound Obstet Gynecol 2020
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Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing.
Jia Zhou, Ziying Yang, Jun Sun, Lipei Liu, Xinyao Zhou, Fengxia Liu, Ya Xing, Shuge Cui, Shiyi Xiong, Xiaoyu Liu,[...]. Genes (Basel) 2021
Jia Zhou, Ziying Yang, Jun Sun, Lipei Liu, Xinyao Zhou, Fengxia Liu, Ya Xing, Shuge Cui, Shiyi Xiong, Xiaoyu Liu,[...]. Genes (Basel) 2021
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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
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Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases.
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk. Genet Med 2017
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk. Genet Med 2017
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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.
Desheng Liang, David S Cram, Hu Tan, Siyuan Linpeng, Yingdi Liu, Huaiyu Sun, Yu Zhang, Feng Tian, Hongmin Zhu, Mengnan Xu,[...]. Genet Med 2019
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Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis.
R Akolekar, J Beta, G Picciarelli, C Ogilvie, F D'Antonio. Ultrasound Obstet Gynecol 2015
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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee,[...]. BMC Med Genomics 2018
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The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies.
M D Kilby. BJOG 2021
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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
Maayke A de Koning, Monique C Haak, Phebe N Adama van Scheltema, Cacha M P C D Peeters-Scholte, Tamara T Koopmann, Esther A R Nibbeling, Emmelien Aten, Nicolette S den Hollander, Claudia A L Ruivenkamp, Mariëtte J V Hoffer,[...]. Genet Med 2019
Maayke A de Koning, Monique C Haak, Phebe N Adama van Scheltema, Cacha M P C D Peeters-Scholte, Tamara T Koopmann, Esther A R Nibbeling, Emmelien Aten, Nicolette S den Hollander, Claudia A L Ruivenkamp, Mariëtte J V Hoffer,[...]. Genet Med 2019
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Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
Christina L Alamillo, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Elaine C Weltmer, John Turocy, Thomas Lowe, Christine Kobelka, Emily Chen, Donald Basel,[...]. Prenat Diagn 2015
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The prevalence of congenital anomalies in Europe.
Helen Dolk, Maria Loane, Ester Garne. Adv Exp Med Biol 2010
Helen Dolk, Maria Loane, Ester Garne. Adv Exp Med Biol 2010
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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Karuna R M van der Meij, Erik A Sistermans, Merryn V E Macville, Servi J C Stevens, Caroline J Bax, Mireille N Bekker, Caterina M Bilardo, Elles M J Boon, Marjan Boter, Karin E M Diderich,[...]. Am J Hum Genet 2019
Karuna R M van der Meij, Erik A Sistermans, Merryn V E Macville, Servi J C Stevens, Caroline J Bax, Mireille N Bekker, Caterina M Bilardo, Elles M J Boon, Marjan Boter, Karin E M Diderich,[...]. Am J Hum Genet 2019
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Importance of complete phenotyping in prenatal whole exome sequencing.
Mahmoud Aarabi, Olivia Sniezek, Huaiyang Jiang, Devereux N Saller, Daniel Bellissimo, Svetlana A Yatsenko, Aleksandar Rajkovic. Hum Genet 2018
Mahmoud Aarabi, Olivia Sniezek, Huaiyang Jiang, Devereux N Saller, Daniel Bellissimo, Svetlana A Yatsenko, Aleksandar Rajkovic. Hum Genet 2018
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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Nicole Corsten-Janssen, Katelijne Bouman, Janouk C D Diphoorn, Arjen J Scheper, Rianne Kinds, Julia El Mecky, Hanna Breet, Joke B G M Verheij, Ron Suijkerbuijk, Leonie K Duin,[...]. Prenat Diagn 2020
Nicole Corsten-Janssen, Katelijne Bouman, Janouk C D Diphoorn, Arjen J Scheper, Rianne Kinds, Julia El Mecky, Hanna Breet, Joke B G M Verheij, Ron Suijkerbuijk, Leonie K Duin,[...]. Prenat Diagn 2020
22
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Nicole Meier, Elisabeth Bruder, Olav Lapaire, Irene Hoesli, Anjeung Kang, Jürgen Hench, Sylvia Hoeller, Julie De Geyter, Peter Miny, Karl Heinimann,[...]. Eur J Hum Genet 2019
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First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects.
Constantinos Pangalos, Birgitta Hagnefelt, Konstantinos Lilakos, Christopher Konialis. PeerJ 2016
Constantinos Pangalos, Birgitta Hagnefelt, Konstantinos Lilakos, Christopher Konialis. PeerJ 2016
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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Lior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel,[...]. Front Genet 2019
Lior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel,[...]. Front Genet 2019
23
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.