A citation-based method for searching scientific literature

Joshua E Petrikin, Laurel K Willig, Laurie D Smith, Stephen F Kingsmore. Semin Perinatol 2015
Times Cited: 107







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



Times Cited
  Times     Co-cited
Similarity


Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist,[...]. Lancet Respir Med 2015
204
49

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
213
38

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
169
37

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis,[...]. Sci Transl Med 2012
386
35

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Josh E Petrikin, Julie A Cakici, Michelle M Clark, Laurel K Willig, Nathaly M Sweeney, Emily G Farrow, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Lee Zellmer,[...]. NPJ Genom Med 2018
95
35

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
217
28

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
28

Rapid Targeted Genomics in Critically Ill Newborns.
Cleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, Tom J de Koning, Birgit Sikkema-Raddatz, Joeri K van der Velde, Kristin M Abbott, Johanna C Herkert, Katharina Löhner, Patrick Rump,[...]. Pediatrics 2017
60
41

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
336
24

Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez,[...]. Genet Med 2018
84
28

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Courtney E French, Isabelle Delon, Helen Dolling, Alba Sanchis-Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo G Branco,[...]. Intensive Care Med 2019
89
23

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Stephen F Kingsmore, Julie A Cakici, Michelle M Clark, Mary Gaughran, Michele Feddock, Sergey Batalov, Matthew N Bainbridge, Jeanne Carroll, Sara A Caylor, Christina Clarke,[...]. Am J Hum Genet 2019
105
20

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Neil A Miller, Emily G Farrow, Margaret Gibson, Laurel K Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, Shane Corder, Lisa Krivohlavek, Adam Walter,[...]. Genome Med 2015
130
19

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.
Laurie D Smith, Laurel K Willig, Stephen F Kingsmore. Cold Spring Harb Perspect Med 2015
57
33

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
918
19

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
17

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
852
17

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman,[...]. J Med Genet 2018
60
28

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed,[...]. JAMA Pediatr 2017
162
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
207
16

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Michelle M Clark, Amber Hildreth, Sergey Batalov, Yan Ding, Shimul Chowdhury, Kelly Watkins, Katarzyna Ellsworth, Brandon Camp, Cyrielle I Kint, Calum Yacoubian,[...]. Sci Transl Med 2019
97
16

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Hussein Daoud, Stephanie M Luco, Rui Li, Eric Bareke, Chandree Beaulieu, Olga Jarinova, Nancy Carson, Sarah M Nikkel, Gail E Graham, Julie Richer,[...]. CMAJ 2016
58
25

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
190
15

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
14

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
507
12

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
225
12

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Erica F Sanford, Michelle M Clark, Lauge Farnaes, Matthew R Williams, James C Perry, Elizabeth G Ingulli, Nathaly M Sweeney, Ami Doshi, Jeffrey J Gold, Benjamin Briggs,[...]. Pediatr Crit Care Med 2019
50
24

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
592
11

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
309
11

A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
11

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Jan M Friedman, Yvonne Bombard, Martina C Cornel, Conrad V Fernandez, Anne K Junker, Sharon E Plon, Zornitza Stark, Bartha Maria Knoppers. Genet Med 2019
29
37

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
222
10

How infants die in the neonatal intensive care unit: trends from 1999 through 2008.
Julie Weiner, Jotishna Sharma, John Lantos, Howard Kilbride. Arch Pediatr Adolesc Med 2011
83
12

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M White, Clara Gaff. Genet Med 2017
123
10

Newborn Sequencing in Genomic Medicine and Public Health.
Jonathan S Berg, Pankaj B Agrawal, Donald B Bailey, Alan H Beggs, Steven E Brenner, Amy M Brower, Julie A Cakici, Ozge Ceyhan-Birsoy, Kee Chan, Flavia Chen,[...]. Pediatrics 2017
104
10

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White. Genet Med 2019
77
12

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, Deborah Copenheaver, Sandra Yang, Monica H Wojcik, Nina B Gold, Casie A Genetti, Joan Stoler, Richard B Parad,[...]. Genet Med 2020
39
25

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
9

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
9

Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Xin C Ye, Lin-Hua Zhang, Amit P Bhavsar, Jessica J Y Lee, Britt I Drögemöller,[...]. N Engl J Med 2016
182
9

Contribution of birth defects and genetic diseases to pediatric hospitalizations. A population-based study.
P W Yoon, R S Olney, M J Khoury, W M Sappenfield, G F Chavez, D Taylor. Arch Pediatr Adolesc Med 1997
131
9

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
116
9

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ozge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, Matthew S Lebo, Timothy W Yu, Shawn Fayer, Casie A Genetti, Talia S Schwartz, Pankaj B Agrawal, Richard B Parad,[...]. Am J Hum Genet 2019
72
12

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Alison M Elliott, Christèle du Souich, Anna Lehman, Ilaria Guella, Daniel M Evans, Tara Candido, Leah Tooman, Linlea Armstrong, Lorne Clarke, William Gibson,[...]. Eur J Pediatr 2019
25
36

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
373
8


Potential Psychosocial Risks of Sequencing Newborns.
Leslie Ann Frankel, Stacey Pereira, Amy L McGuire. Pediatrics 2016
33
24

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth. Genet Med 2018
214
8

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K Ruzzo, Yi-Fan Lu, K Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi,[...]. Genet Med 2015
206
8

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Julie A Cakici, David P Dimmock, Sara A Caylor, Mary Gaughran, Christina Clarke, Cynthia Triplett, Michelle M Clark, Stephen F Kingsmore, Cinnamon S Bloss. Am J Hum Genet 2020
26
30


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.