A citation-based method for searching scientific literature

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, Han Brunner, Ny Hoang, Stephen W Scherer, Mustafa Sahin, David T Miller. Genet Med 2019
Times Cited: 170







List of co-cited articles
642 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
40

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
30

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
568
17

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
520
15

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
230
14

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
217
14

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
14


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
287
11

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
158
10

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
364
10

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
10

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.
Christa Lese Martin, Karen E Wain, Matthew T Oetjens, Kasia Tolwinski, Emily Palen, Abby Hare-Harris, Lukas Habegger, Evan K Maxwell, Jeffrey G Reid, Lauren Kasparson Walsh,[...]. JAMA Psychiatry 2020
24
37

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.
Andres Moreno-De-Luca, Scott M Myers, Thomas D Challman, Daniel Moreno-De-Luca, David W Evans, David H Ledbetter. Lancet Neurol 2013
184
9

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
685
9


Genetic Testing in Neurodevelopmental Disorders.
Juliann M Savatt, Scott M Myers. Front Pediatr 2021
26
34

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Kandamurugu Manickam, Monica R McClain, Laurie A Demmer, Sawona Biswas, Hutton M Kearney, Jennifer Malinowski, Lauren J Massingham, Danny Miller, Timothy W Yu, Fuki M Hisama. Genet Med 2021
38
23

The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
8

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
8

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
25
32

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
936
8

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
8

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
Robert W Davies, Ania M Fiksinski, Elemi J Breetvelt, Nigel M Williams, Stephen R Hooper, Thomas Monfeuga, Anne S Bassett, Michael J Owen, Raquel E Gur, Bernice E Morrow,[...]. Nat Med 2020
35
22

A large data resource of genomic copy number variation across neurodevelopmental disorders.
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, Edwin J Young, Edward J Higginbotham, Jeffrey R MacDonald, Brett Trost, Ada J S Chan, Susan Walker, Sylvia Lamoureux,[...]. NPJ Genom Med 2019
49
16


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
94
8

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
7

Identification of common genetic risk variants for autism spectrum disorder.
Jakob Grove, Stephan Ripke, Thomas D Als, Manuel Mattheisen, Raymond K Walters, Hyejung Won, Jonatan Pallesen, Esben Agerbo, Ole A Andreassen, Richard Anney,[...]. Nat Genet 2019
644
7

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
182
7

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
119
7

Autism genetics: opportunities and challenges for clinical translation.
Jacob A S Vorstman, Jeremy R Parr, Daniel Moreno-De-Luca, Richard J L Anney, John I Nurnberger, Joachim F Hallmayer. Nat Rev Genet 2017
198
7


GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
704
7

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
100
7

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sarah E Soden, Carol J Saunders, Laurel K Willig, Emily G Farrow, Laurie D Smith, Josh E Petrikin, Jean-Baptiste LePichon, Neil A Miller, Isabelle Thiffault, Darrell L Dinwiddie,[...]. Sci Transl Med 2014
343
7

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
860
7

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
131
7

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
599
7

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, Raymond K Walters, Jack A Kosmicki, Jakob Grove, Kaitlin E Samocha, Jacqueline I Goldstein, Aysu Okbay, Jonas Bybjerg-Grauholm,[...]. Nat Genet 2017
221
6

Pathways from autism spectrum disorder diagnosis to genetic testing.
Krysta S Barton, Holly K Tabor, Helene Starks, Nanibaa' A Garrison, Mercy Laurino, Wylie Burke. Genet Med 2018
18
33

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
558
6

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
228
6

Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
Iván Sánchez Fernández, Tobias Loddenkemper, Marina Gaínza-Lein, Beth Rosen Sheidley, Annapurna Poduri. Neurology 2019
36
16

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Caroline F Wright, Jeremy F McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas W FitzGerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord,[...]. Genet Med 2018
149
6

A framework for an evidence-based gene list relevant to autism spectrum disorder.
Christian P Schaaf, Catalina Betancur, Ryan K C Yuen, Jeremy R Parr, David H Skuse, Louise Gallagher, Raphael A Bernier, Janet A Buchanan, Joseph D Buxbaum, Chun-An Chen,[...]. Nat Rev Genet 2020
30
20

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Isabelle Cleynen, Worrawat Engchuan, Matthew S Hestand, Tracy Heung, Aaron M Holleman, H Richard Johnston, Thomas Monfeuga, Donna M McDonald-McGinn, Raquel E Gur, Bernice E Morrow,[...]. Mol Psychiatry 2021
36
16


Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.
Lina Basel-Salmon, Naama Orenstein, Keren Markus-Bustani, Noa Ruhrman-Shahar, Yael Kilim, Nurit Magal, Monika Weisz Hubshman, Lily Bazak. Genet Med 2019
39
15



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.