A citation-based method for searching scientific literature

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, W Andrew Faucett, Lars Feuk, Jan M Friedman, Ada Hamosh, Laird Jackson, Erin B Kaminsky, Klaas Kok, Ian D Krantz, Robert M Kuhn, Charles Lee, James M Ostell, Carla Rosenberg, Stephen W Scherer, Nancy B Spinner, Dimitri J Stavropoulos, James H Tepperberg, Erik C Thorland, Joris R Vermeesch, Darrel J Waggoner, Michael S Watson, Christa Lese Martin, David H Ledbetter. Am J Hum Genet 2010
Times Cited: 1578







List of co-cited articles
475 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
26

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
158
24

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
250
19

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
549
15

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
206
13


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
227
11

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
128
10


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
524
9

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
498
9


Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Ryan K C Yuen, Daniele Merico, Matt Bookman, Jennifer L Howe, Bhooma Thiruvahindrapuram, Rohan V Patel, Joe Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang,[...]. Nat Neurosci 2017
376
8

The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
691
8

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
676
8

ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
555
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
7

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
188
7

European guidelines for constitutional cytogenomic analysis.
Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings. Eur J Hum Genet 2019
51
13

Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers,[...]. Nat Genet 2014
340
6

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
846
6

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
902
6

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
6

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
194
6

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
26
23

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
690
5

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
307
5

Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray.
Robin Z Hayeems, Ny Hoang, Sebastien Chenier, Dimitri J Stavropoulos, Shuye Pu, Rosanna Weksberg, Cheryl Shuman. Eur J Hum Genet 2015
15
33

Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling.
R Z Hayeems, R Babul-Hirji, N Hoang, R Weksberg, C Shuman. J Genet Couns 2016
25
20

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Jennifer Malinowski, David T Miller, Laurie Demmer, Jennifer Gannon, Elaine Maria Pereira, Molly C Schroeder, Maren T Scheuner, Anne Chun-Hui Tsai, Scott E Hickey, Jun Shen. Genet Med 2020
19
26

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
5

Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Mark J P Chaisson, Ashley D Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J Gardner, Oscar L Rodriguez, Li Guo, Ryan L Collins,[...]. Nat Commun 2019
278
5

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
218
5

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
354
5

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
248
5

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
296
5

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
587
5

Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Wai Lun Alan Fung, Nancy J Butcher, Gregory Costain, Danielle M Andrade, Erik Boot, Eva W C Chow, Brian Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman,[...]. Genet Med 2015
126
5

Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.
Kimberley M Kendall, Matthew Bracher-Smith, Harry Fitzpatrick, Amy Lynham, Elliott Rees, Valentina Escott-Price, Michael J Owen, Michael C O'Donovan, James T R Walters, George Kirov. Br J Psychiatry 2019
38
10

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
Xinyan Lu, Chad A Shaw, Ankita Patel, Jiangzhen Li, M Lance Cooper, William R Wells, Cathy M Sullivan, Trilochan Sahoo, Svetlana A Yatsenko, Carlos A Bacino,[...]. PLoS One 2007
164
4

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.
Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye,[...]. BMC Med Genomics 2018
12
33


Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.
Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie,[...]. Am J Med Genet A 2018
23
17

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick,[...]. NPJ Genom Med 2018
168
4

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu,[...]. JAMA Pediatr 2017
208
4

Parents' Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis.
Lesli A Kiedrowski, Kailey M Owens, Beverly M Yashar, Jane L Schuette. J Genet Couns 2016
32
12

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
22

Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders.
Marian Reiff, Ellen Giarelli, Barbara A Bernhardt, Ebony Easley, Nancy B Spinner, Pamela L Sankar, Surabhi Mulchandani. J Autism Dev Disord 2015
49
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
16

Whole-genome sequencing of quartet families with autism spectrum disorder.
Ryan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, Susan Walker, Kristiina Tammimies, Ny Hoang, Christina Chrysler, Thomas Nalpathamkalam, Giovanna Pellecchia, Yi Liu,[...]. Nat Med 2015
309
4


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.