A citation-based method for searching scientific literature

Lauren A Borch, Jillian Parboosingh, Mary Ann Thomas, Pamela Veale. Genet Med 2020
Times Cited: 8







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



Times Cited
  Times     Co-cited
Similarity


Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
75


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
91
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

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
145
37

Do the data really support ordering fragile X testing as a first-tier test without clinical features?
Veronique Weinstein, Pranoot Tanpaiboon, Kimberly A Chapman, Nicholas Ah Mew, Sean Hofherr. Genet Med 2017
11
37



Fragile X syndrome: diagnostic and carrier testing.
Stephanie Sherman, Beth A Pletcher, Deborah A Driscoll. Genet Med 2005
181
37

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo, Anna Capalbo, Tiziana Filippi, John C Carey. Eur J Paediatr Neurol 2013
114
37

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
125
37

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Kristiina Tammimies, Christian R Marshall, Susan Walker, Gaganjot Kaur, Bhooma Thiruvahindrapuram, Anath C Lionel, Ryan K C Yuen, Mohammed Uddin, Wendy Roberts, Rosanna Weksberg,[...]. JAMA 2015
195
37

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh,[...]. J Med Genet 2014
153
25

Clinical whole-exome sequencing results impact medical management.
Nancy Niguidula, Christina Alamillo, Layla Shahmirzadi Mowlavi, Zöe Powis, Julie S Cohen, Kelly D Farwell Hagman. Mol Genet Genomic Med 2018
18
25




A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner,[...]. Genet Med 2017
98
25

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Michelle Fox, Naghmeh Dorrani, Andrea Hendershot, Rebecca Mardach, Robert Suddath,[...]. Genet Med 2017
10
25


Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L Magoulas, Alicia Braxton, Patricia Ward,[...]. N Engl J Med 2019
58
25


Fragile X testing as a second-tier test.
Taila Hartley, Ryan Potter, Lauren Badalato, Amanda C Smith, Olga Jarinova, Kym M Boycott. Genet Med 2017
5
40

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
783
25

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
Sarah L Nolin, Anne Glicksman, Nicole Tortora, Emily Allen, James Macpherson, Montserrat Mila, Angela M Vianna-Morgante, Stephanie L Sherman, Carl Dobkin, Gary J Latham,[...]. Am J Med Genet A 2019
16
25

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
A J Verkerk, M Pieretti, J S Sutcliffe, Y H Fu, D P Kuhl, A Pizzuti, O Reiner, S Richards, M F Victoria, F P Zhang. Cell 1991
25

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
Karen S Ho, Hope Twede, Rena Vanzo, Erin Harward, Charles H Hensel, Megan M Martin, Stephanie Page, Andreas Peiffer, Patricia Mowery-Rushton, Moises Serrano,[...]. Biomed Res Int 2016
12
25

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Mari Rossi, Dima El-Khechen, Mary Helen Black, Kelly D Farwell Hagman, Sha Tang, Zöe Powis. Pediatr Neurol 2017
40
25

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
306
25

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.
Rick M Tankard, Mark F Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo. Am J Hum Genet 2018
33
25

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Darrel Waggoner, Karen E Wain, Adrian M Dubuc, Laura Conlin, Scott E Hickey, Allen N Lamb, Christa Lese Martin, Cynthia C Morton, Kristen Rasmussen, Jane L Schuette,[...]. Genet Med 2018
17
25

Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Jessica Hunter, Oliver Rivero-Arias, Angel Angelov, Edward Kim, Iain Fotheringham, Jose Leal. Am J Med Genet A 2014
138
25

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Y H Fu, D P Kuhl, A Pizzuti, M Pieretti, J S Sutcliffe, S Richards, A J Verkerk, J J Holden, R G Fenwick, S T Warren. Cell 1991
25

The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.
Gary J Latham, Justine Coppinger, Andrew G Hadd, Sarah L Nolin. Front Genet 2014
27
25

Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?
Susan G McGrew, Brittany R Peters, Julie A Crittendon, Jeremy Veenstra-Vanderweele. J Autism Dev Disord 2012
35
25

Clinical genetic testing for patients with autism spectrum disorders.
Yiping Shen, Kira A Dies, Ingrid A Holm, Carolyn Bridgemohan, Magdi M Sobeih, Elizabeth B Caronna, Karen J Miller, Jean A Frazier, Iris Silverstein, Jonathan Picker,[...]. Pediatrics 2010
240
25

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley,[...]. Genet Med 2018
57
25

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory.
Charles M Strom, Beryl Crossley, Joy B Redman, Arlene Buller, Franklin Quan, Mei Peng, Matthew McGinnis, Raymond G Fenwick, Weimin Sun. Genet Med 2007
37
25

Chromosomal microarray testing influences medical management.
Michael E Coulter, David T Miller, David J Harris, Pamela Hawley, Jonathan Picker, Amy E Roberts, Magdi M Sobeih, Mira Irons. Genet Med 2011
76
25

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Aaron M Wenger, Harendra Guturu, Jonathan A Bernstein, Gill Bejerano. Genet Med 2017
130
25

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Francesca M Snoeijen-Schouwenaars, Jans S van Ool, Judith S Verhoeven, Petra van Mierlo, Hilde M H Braakman, Eric E Smeets, Joost Nicolai, Jeroen Schoots, Mariel W A Teunissen, Rob P W Rouhl,[...]. Epilepsia 2019
21
25

Neurodevelopmental disorders.
Anita Thapar, Miriam Cooper, Michael Rutter. Lancet Psychiatry 2017
136
25

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Maryam Al-Nabhani, Samiya Al-Rashdi, Fathiya Al-Murshedi, Adila Al-Kindi, Khalid Al-Thihli, Abeer Al-Saegh, Amna Al-Futaisi, Watfa Al-Mamari, Fahad Zadjali, Almundher Al-Maawali. Clin Genet 2018
19
25

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
20
25


Diagnostic value of partial exome sequencing in developmental disorders.
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna,[...]. PLoS One 2018
13
25

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
Jin Sook Lee, Hee Hwang, Soo Yeon Kim, Ki Joong Kim, Jin Sun Choi, Mi Jung Woo, Young Min Choi, Jong Kwan Jun, Byung Chan Lim, Jong Hee Chae. Ann Lab Med 2018
15
25

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
F Kyle Satterstrom, Jack A Kosmicki, Jiebiao Wang, Michael S Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Collins, Jakob Grove, Lambertus Klei,[...]. Cell 2020
297
25

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M B Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö,[...]. Genome Med 2019
31
25

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Nicolien M Hanemaaijer, Birgit Sikkema-Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J van Essen, Hermine E Veenstra-Knol, Wilhelmina S Kerstjens-Frederikse, Johanna C Herkert, Erica H Gerkes,[...]. Eur J Hum Genet 2012
47
25


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.