A citation-based method for searching scientific literature

Wei Guo, Yuchen Lai, Zhiqiang Yan, Yuqian Wang, Yanli Nie, Shuo Guan, Ying Kuo, Wenxin Zhang, Xiaohui Zhu, Mei Peng, Xu Zhi, Yuan Wei, Liying Yan, Jie Qiao. Hum Mutat 2020
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


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
66

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
15
33

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
21
33

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
31
33

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
14
33

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
63
33

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
33


Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Tawfiq Froukh, Omar Nafie, Sana' A S Al Hait, Lucia Laugwitz, Julia Sommerfeld, Marc Sturm, Aya Baraghiti, Tala Issa, Anis Al-Nazer, Philipp A Koch,[...]. Clin Genet 2020
5
40

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
Anderson Rodrigues Brandão de Paiva, David S Lynch, Uirá Souto Melo, Leandro Tavares Lucato, Fernando Freua, Bruno Della Ripa de Assis, Isabella Barcelos, Clarice Listik, Diego de Castro Dos Santos, Lúcia Inês Macedo-Souza,[...]. Neurol Genet 2019
5
40

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.
Ranad Shaheen, Lu Han, Eissa Faqeih, Nour Ewida, Eman Alobeid, Eric M Phizicky, Fowzan S Alkuraya. Hum Genet 2016
69
33

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
Ahmed Alfares, Majid Alfadhel, Tariq Wani, Saud Alsahli, Iram Alluhaydan, Fuad Al Mutairi, Ali Alothaim, Mohammed Albalwi, Lamia Al Subaie, Saeed Alturki,[...]. Mol Genet Metab 2017
35
33


Pseudouridine in RNA: what, where, how, and why.
M Charette, M W Gray. IUBMB Life 2000
333
33


MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
33

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
33

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
133
16

Insights into genetics, human biology and disease gleaned from family based genomic studies.
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, Tamar Harel, Shalini N Jhangiani, Zeynep H Coban Akdemir, Steven Buyske, Davut Pehlivan, Claudia M B Carvalho, Samantha Baxter,[...]. Genet Med 2019
71
16

Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies.
Min Chen, Jingsi Chen, Chunli Wang, Fei Chen, Yinong Xie, Yufan Li, Nan Li, Jing Wang, Victor Wei Zhang, Dunjin Chen. Eur J Obstet Gynecol Reprod Biol 2020
6
16

The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation.
Violeta Muñoz-Fuentes, Pilar Cacheiro, Terrence F Meehan, Juan Antonio Aguilar-Pimentel, Steve D M Brown, Ann M Flenniken, Paul Flicek, Antonella Galli, Hamed Haseli Mashhadi, Martin Hrabě de Angelis,[...]. Conserv Genet 2018
36
16

Fetal exome sequencing: yield and limitations in a tertiary referral center.
H Daum, V Meiner, O Elpeleg, T Harel. Ultrasound Obstet Gynecol 2019
25
16

Fetal phenotypes emerge as genetic technologies become robust.
Kathryn J Gray, Louise E Wilkins-Haug, Nancy J Herrig, Neeta L Vora. Prenat Diagn 2019
18
16

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Jung Hoon Son, Gangcai Xie, Chi Yuan, Lyudmila Ena, Ziran Li, Andrew Goldstein, Lulin Huang, Liwei Wang, Feichen Shen, Hongfang Liu,[...]. Am J Hum Genet 2018
46
16

Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.
Shagun Aggarwal, Aneek Das Bhowmik, Ashwani Tandon, Ashwin Dalal. Eur J Med Genet 2018
5
20

Update on the use of exome sequencing in the diagnosis of fetal abnormalities.
Lauren Ferretti, Rhiannon Mellis, Lyn S Chitty. Eur J Med Genet 2019
18
16

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
174
16

Diagnosing rare diseases after the exome.
Laure Frésard, Stephen B Montgomery. Cold Spring Harb Mol Case Stud 2018
17
16



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
107
16

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
166
16

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
49
16

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
19
16

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Kym M Boycott, Taila Hartley, Leslie G Biesecker, Richard A Gibbs, A Micheil Innes, Olaf Riess, John Belmont, Sally L Dunwoodie, Nebojsa Jojic, Timo Lassmann,[...]. Cell 2019
41
16

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie-Ange Delrue, Dorothée Dal Soglio, Luc L Oligny, Natalie Patey,[...]. Genet Med 2018
34
16

Fetal Exome Sequencing on the Horizon.
Karen Wou, Isabelle DeBie, June Carroll, Jo-Ann Brock, R Douglas Wilson. J Obstet Gynaecol Can 2019
5
20

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
134
16

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
4
25

Molecular autopsy in maternal-fetal medicine.
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan,[...]. Genet Med 2018
47
16


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
17
16


High-throughput discovery of novel developmental phenotypes.
Mary E Dickinson, Ann M Flenniken, Xiao Ji, Lydia Teboul, Michael D Wong, Jacqueline K White, Terrence F Meehan, Wolfgang J Weninger, Henrik Westerberg, Hibret Adissu,[...]. Nature 2016
503
16

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
F Fu, R Li, Y Li, Z-Q Nie, T Lei, D Wang, X Yang, J Han, M Pan, L Zhen,[...]. Ultrasound Obstet Gynecol 2018
54
16

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
18
16

The Rise and Rise of Exome Sequencing.
Chee-Seng Ku, David N Cooper, George P Patrinos. Public Health Genomics 2016
9
16

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.
Ilina Datkhaeva, Valerie A Arboleda, T Niroshi Senaratne, Gelareh Nikpour, Cherise Meyerson, Yipeng Geng, Yalda Afshar, Emily Scibetta, Jeffrey Goldstein, Fabiola Quintero-Rivera,[...]. Am J Med Genet A 2018
16
16

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.
Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, Harendra Guturu, Peter D Stenson, David N Cooper, Jonathan A Bernstein, Gill Bejerano. Nat Genet 2016
352
16

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
955
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.