A citation-based method for searching scientific literature

Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick, Matthew N Bainbridge, Jennifer Friedman, Jeffrey J Gold, Yan Ding, Narayanan Veeraraghavan, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
Times Cited: 196



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, Yan Ding, Katarzyna Ellsworth, Lauge Farnaes, Amber Hildreth, Charlotte Hobbs, Kiely James, Cyrielle I Kint, Jerica Lenberg, Shareef Nahas, Lance Prince, Iris Reyes, Lisa Salz, Erica Sanford, Peter Schols, Nathaly Sweeney, Mari Tokita, Narayanan Veeraraghavan, Kelly Watkins, Kristen Wigby, Terence Wong, Shimul Chowdhury, Meredith S Wright, David Dimmock. Am J Hum Genet 2019
Times Cited: 139




List of shared articles



Times cited

Can artificial intelligence save medical genetics?
Benjamin D Solomon. Am J Med Genet A 2022
2

Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.
Lin Yang, Zejun Wei, Xiang Chen, Liyuan Hu, Xiaomin Peng, Jin Wang, Chunmei Lu, Yanting Kong, Xinran Dong, Qi Ni,[...]. Clin Genet 2022
4


Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.
Anne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, Alban Ziegler, Médéric Jeanne, Frédéric Tran Mau-Them, Victor Couturier, Caroline Racine, Bertrand Isidor, Charlotte Poë,[...]. Eur J Hum Genet 2022
5

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Rachel Palmquist, Sabrina Malone Jenkins, Dawn Bentley, Christine Miller, Rong Mao, Bailey Meibos, Pinar Bayrak-Toydemir, Tatiana Tvrdik, Lincoln D Nadauld, Steven B Bleyl,[...]. Pediatr Res 2022
1

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
Hisato Suzuki, Masatoshi Nozaki, Hiroshi Yoshihashi, Kazuo Imagawa, Daigo Kajikawa, Mamiko Yamada, Yu Yamaguchi, Naoya Morisada, Mayuko Eguchi, Shoko Ohashi,[...]. J Pediatr 2022
0

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.
Erica Sanford Kobayashi, Bryce Waldman, Branden M Engorn, Katherine Perofsky, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Jeffrey J Gold, Ami Doshi,[...]. Front Pediatr 2022
5

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Sarah U Morton, John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H Wojcik, Courtney E French, Anna Szuto, James J Dowling, Ronald D Cohn,[...]. JAMA Neurol 2022
1

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.
Kristen P Fishler, Joshua C Euteneuer, Luca Brunelli. Int J Neonatal Screen 2022
0

Rapid Exome and Genome Sequencing in the Intensive Care Unit.
Michael Muriello, Donald Basel. Crit Care Clin 2022
0

Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
Vakaramoko Diaby, Aram Babcock, Yushi Huang, Richard K Moussa, Paula S Espinal, Michelin Janvier, Diana Soler, Apeksha Gupta, Parul Jayakar, Magaly Diaz-Barbosa,[...]. Pharmacogenomics J 2022
2

The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit.
Elisabet Rodriguez Llorian, Nick Dragojlovic, Teresa M Campbell, Jan M Friedman, Horacio Osiovich, Alison M Elliott, Larry D Lynd. Genet Med 2022
1

The Role of Genome Sequencing in Neonatal Intensive Care Units.
Stephen F Kingsmore, F Sessions Cole. Annu Rev Genomics Hum Genet 2022
4

Better and faster is cheaper.
Erica F Sanford Kobayashi, David P Dimmock. Hum Mutat 2022
0

'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning.
Hilary Bowman-Smart, Danya F Vears, Gemma R Brett, Melissa Martyn, Zornitza Stark, Christopher Gyngell. Eur J Hum Genet 2022
1

Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation.
Helen McDermott, Charlotte Sherlaw-Sturrock, Julia Baptista, Lorraine Hartles-Spencer, Swati Naik. Eur J Med Genet 2022
0

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Ferdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, Isabel Filges, Teresa N Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau,[...]. Am J Med Genet C Semin Med Genet 2022
2

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Mallory J Owen, Sebastien Lefebvre, Christian Hansen, Chris M Kunard, David P Dimmock, Laurie D Smith, Gunter Scharer, Rebecca Mardach, Mary J Willis, Annette Feigenbaum,[...]. Nat Commun 2022
4

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel,[...]. Am J Hum Genet 2022
2


Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
Alissa M D'Gama, Maya C Del Rosario, Mairead A Bresnahan, Timothy W Yu, Monica H Wojcik, Pankaj B Agrawal. NPJ Genom Med 2022
0

Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis.
Feifan Xiao, Kai Yan, Meiling Tang, Xiaoshan Ji, Liyuan Hu, Lin Yang, Wenhao Zhou. Expert Rev Mol Diagn 2022
0

Rapid genome sequencing for pediatrics.
Jana Jezkova, Sophie Shaw, Nicola V Taverner, Hywel J Williams. Hum Mutat 2022
0

Rapid Genetic Testing in Pediatric and Neonatal Critical Care: A Scoping Review of Emerging Ethical Issues.
Lauren Chad, James Anderson, Diana Cagliero, Robin Z Hayeems, Linh G Ly, Anna Szuto. Hosp Pediatr 2022
0

Current Practices for Genetic Testing in Neonatal Extracorporeal Membrane Oxygenation: Findings from a National survey.
K Taylor Wild, Franscesca Miquel-Verges, Natalie E Rintoul, Robert DiGeronimo, Sarah Keene, Shannon E Hamrick, Burhan Mahmood, Rakesh Rao, Nicholas R Carr. Perfusion 2022
0

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.
Erica Sanford Kobayashi, Serge Batalov, Aaron M Wenger, Christine Lambert, Harsharan Dhillon, Richard J Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby,[...]. Sci Rep 2022
0

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
Daniel Bamborschke, Özkan Özdemir, Mona Kreutzer, Susanne Motameny, Holger Thiele, Angela Kribs, Jörg Dötsch, Janine Altmüller, Peter Nürnberg, Sebahattin Cirak. Am J Med Genet A 2021
9

Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences.
Caitlin E Aldridge, Horacio Osiovich, Harold Hal Siden, Alison M Elliott. J Genet Couns 2021
11

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.
Stephanie Best, Helen Brown, Sebastian Lunke, Chirag Patel, Jason Pinner, Christopher P Barnett, Meredith Wilson, Sarah A Sandaradura, Belinda McClaren, Gemma R Brett,[...]. NPJ Genom Med 2021
9

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
Jill L Maron, Stephen F Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock, Brenda Poindexter, Kristen Suhrie, Jerry Vockley, Thomas Diacovo, Bruce D Gelb,[...]. JAMA Pediatr 2021
16

Genetic testing for unexplained perinatal disorders.
Thomas Hays, Ronald J Wapner. Curr Opin Pediatr 2021
3

Genetic Testing for Neonatal Respiratory Disease.
Lawrence M Nogee, Rita M Ryan. Children (Basel) 2021
3

Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment.
Ilias Goranitis, Stephanie Best, John Christodoulou, Tiffany Boughtwood, Zornitza Stark. Eur J Hum Genet 2021
5

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, Sergey Batalov, Michelle Clark, Sara Caylor, Julie Cakici, John J Nigro, Yan Ding, Narayanan Veeraraghavan,[...]. NPJ Genom Med 2021
17

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.
Bingbing Wu, Wenqing Kang, Yingyuan Wang, Deyi Zhuang, Liping Chen, Long Li, Yajie Su, Xinnian Pan, Qiufen Wei, Zezhong Tang,[...]. Crit Care Med 2021
9


Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
David Dimmock, Sara Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason L Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John Cleary,[...]. Am J Hum Genet 2021
59

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
74

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Juan Liu, Yu Zheng, Jiaotian Huang, Desheng Zhu, Ping Zang, Zhenqing Luo, Yongjia Yang, Yu Peng, Zhenghui Xiao, Yimin Zhu,[...]. Hum Mutat 2021
2

Parents' experiences of decision making for rapid genomic sequencing in intensive care.
Fiona Lynch, Amy Nisselle, Zornitza Stark, Clara L Gaff, Belinda McClaren. Eur J Hum Genet 2021
5

Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
Xuejun Ouyang, Yu Zhang, Lijuan Zhang, Jixuan Luo, Ting Zhang, Hui Hu, Lin Liu, Lieqiang Zhong, Shaoying Zeng, Pingyi Xu,[...]. Front Genet 2021
3

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
Ian D Krantz, Livija Medne, Jamila M Weatherly, K Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney Hartman, Luca Brunelli, Kristen P Fishler, Omar Abdul-Rahman,[...]. JAMA Pediatr 2021
26

Epilepsy in the mTORopathies: opportunities for precision medicine.
Patrick B Moloney, Gianpiero L Cavalleri, Norman Delanty. Brain Commun 2021
12

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Francisco M De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence Wong, Kiely James, Lucia Guidugli, Pankaj B Agrawal,[...]. Genome Med 2021
15