Yonghong Li, Lori A Anderson, Edward I Ginns, James J Devlin. Mol Diagn Ther 2018
Times Cited: 11
Times Cited: 11
Times Cited
Times Co-cited
Similarity
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
D J Michelson, M I Shevell, E H Sherr, J B Moeschler, A L Gropman, S Ashwal. Neurology 2011
D J Michelson, M I Shevell, E H Sherr, J B Moeschler, A L Gropman, S Ashwal. Neurology 2011
27
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
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
27
Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.
M Shevell, S Ashwal, D Donley, J Flint, M Gingold, D Hirtz, A Majnemer, M Noetzel, R D Sheth. Neurology 2003
M Shevell, S Ashwal, D Donley, J Flint, M Gingold, D Hirtz, A Majnemer, M Noetzel, R D Sheth. Neurology 2003
27
Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
27
Prevalence of intellectual disability: a meta-analysis of population-based studies.
Pallab K Maulik, Maya N Mascarenhas, Colin D Mathers, Tarun Dua, Shekhar Saxena. Res Dev Disabil 2011
Pallab K Maulik, Maya N Mascarenhas, Colin D Mathers, Tarun Dua, Shekhar Saxena. Res Dev Disabil 2011
27
Current evidence-based recommendations on investigating children with global developmental delay.
Renuka Mithyantha, Rachel Kneen, Emma McCann, Melissa Gladstone. Arch Dis Child 2017
Renuka Mithyantha, Rachel Kneen, Emma McCann, Melissa Gladstone. Arch Dis Child 2017
18
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Ji Yoon Han, Ja Hyun Jang, Joonhong Park, In Goo Lee. Front Pediatr 2018
Ji Yoon Han, Ja Hyun Jang, Joonhong Park, In Goo Lee. Front Pediatr 2018
18
Genetics and the investigation of developmental delay/intellectual disability.
Myriam Srour, Michael Shevell. Arch Dis Child 2014
Myriam Srour, Michael Shevell. Arch Dis Child 2014
18
A clinical approach to developmental delay and intellectual disability.
Pradeep Vasudevan, Mohnish Suri. Clin Med (Lond) 2017
Pradeep Vasudevan, Mohnish Suri. Clin Med (Lond) 2017
18
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
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
18
The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.
Ricardo Harripaul, Abdul Noor, Muhammad Ayub, John B Vincent. Cold Spring Harb Perspect Med 2017
Ricardo Harripaul, Abdul Noor, Muhammad Ayub, John B Vincent. Cold Spring Harb Perspect Med 2017
18
Evaluation of the child with global developmental delay and intellectual disability.
Stacey A Bélanger, Joannie Caron. Paediatr Child Health 2018
Stacey A Bélanger, Joannie Caron. Paediatr Child Health 2018
18
Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.
Dean A Regier, Jan M Friedman, Carlo A Marra. Am J Hum Genet 2010
Dean A Regier, Jan M Friedman, Carlo A Marra. Am J Hum Genet 2010
18
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
Ron Hochstenbach, Ellen van Binsbergen, John Engelen, Aggie Nieuwint, Abeltje Polstra, Pino Poddighe, Claudia Ruivenkamp, Birgit Sikkema-Raddatz, Dominique Smeets, Martin Poot. Eur J Med Genet 2009
Ron Hochstenbach, Ellen van Binsbergen, John Engelen, Aggie Nieuwint, Abeltje Polstra, Pino Poddighe, Claudia Ruivenkamp, Birgit Sikkema-Raddatz, Dominique Smeets, Martin Poot. Eur J Med Genet 2009
18
Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis.
Yannis Trakadis, Michael Shevell. Dev Med Child Neurol 2011
Yannis Trakadis, Michael Shevell. Dev Med Child Neurol 2011
18
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
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
18
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
Michael E Coulter, David T Miller, David J Harris, Pamela Hawley, Jonathan Picker, Amy E Roberts, Magdi M Sobeih, Mira Irons. Genet Med 2011
18
Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.
Sarah Wordsworth, James Buchanan, Regina Regan, Val Davison, Kim Smith, Sara Dyer, Carolyn Campbell, Edward Blair, Eddy Maher, Jenny Taylor,[...]. Genomic Med 2007
Sarah Wordsworth, James Buchanan, Regina Regan, Val Davison, Kim Smith, Sara Dyer, Carolyn Campbell, Edward Blair, Eddy Maher, Jenny Taylor,[...]. Genomic Med 2007
18
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
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
18
Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.
Tom J de Koning, Jan D H Jongbloed, Birgit Sikkema-Raddatz, Richard J Sinke. Expert Rev Mol Diagn 2015
Tom J de Koning, Jan D H Jongbloed, Birgit Sikkema-Raddatz, Richard J Sinke. Expert Rev Mol Diagn 2015
9
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
Vandana Shashi, Allyn McConkie-Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong-Hui Jiang, Pingxing Xie, Anna Need, David B Goldstein. Genet Med 2014
Vandana Shashi, Allyn McConkie-Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong-Hui Jiang, Pingxing Xie, Anna Need, David B Goldstein. Genet Med 2014
9
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.
Matthew N Bainbridge, Min Wang, Yuanqing Wu, Irene Newsham, Donna M Muzny, John L Jefferies, Thomas J Albert, Daniel L Burgess, Richard A Gibbs. Genome Biol 2011
Matthew N Bainbridge, Min Wang, Yuanqing Wu, Irene Newsham, Donna M Muzny, John L Jefferies, Thomas J Albert, Daniel L Burgess, Richard A Gibbs. Genome Biol 2011
9
Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.
Leigh Anne Flore, Jeff M Milunsky. Semin Pediatr Neurol 2012
Leigh Anne Flore, Jeff M Milunsky. Semin Pediatr Neurol 2012
9
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, Joseph S Salama, Ragan Hart, Brian H Shirts, Mitzi L Murray, Mari J Tokita, Carlos J Gallego, Daniel Seung Kim,[...]. Genome Res 2015
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, Joseph S Salama, Ragan Hart, Brian H Shirts, Mitzi L Murray, Mari J Tokita, Carlos J Gallego, Daniel Seung Kim,[...]. Genome Res 2015
9
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber,[...]. Eur J Hum Genet 2017
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber,[...]. Eur J Hum Genet 2017
9
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.
Hadley Stevens Smith, J Michael Swint, Seema R Lalani, Jose-Miguel Yamal, Marcia C de Oliveira Otto, Stephan Castellanos, Amy Taylor, Brendan H Lee, Heidi V Russell. Genet Med 2019
Hadley Stevens Smith, J Michael Swint, Seema R Lalani, Jose-Miguel Yamal, Marcia C de Oliveira Otto, Stephan Castellanos, Amy Taylor, Brendan H Lee, Heidi V Russell. Genet Med 2019
9
"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.
Anne Townsend, Shelin Adam, Patricia H Birch, Zoe Lohn, Francois Rousseau, Jan M Friedman. Am J Med Genet A 2012
Anne Townsend, Shelin Adam, Patricia H Birch, Zoe Lohn, Francois Rousseau, Jan M Friedman. Am J Med Genet A 2012
9
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Erica D Smith, Kelly Radtke, Mari Rossi, Deepali N Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K Grange,[...]. Hum Mutat 2017
Erica D Smith, Kelly Radtke, Mari Rossi, Deepali N Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K Grange,[...]. Hum Mutat 2017
9
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
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
9
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan,[...]. Nat Genet 2015
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan,[...]. Nat Genet 2015
9
Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.
Andy Wing Chun Pang, Jeffrey R Macdonald, Ryan K C Yuen, Vanessa M Hayes, Stephen W Scherer. G3 (Bethesda) 2014
Andy Wing Chun Pang, Jeffrey R Macdonald, Ryan K C Yuen, Vanessa M Hayes, Stephen W Scherer. G3 (Bethesda) 2014
9
Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?
Eva C Winkler, Stefan Wiemann. Expert Rev Mol Diagn 2016
Eva C Winkler, Stefan Wiemann. Expert Rev Mol Diagn 2016
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
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
9
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
. Genome Biol 2015
. Genome Biol 2015
9
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Yong-hui Jiang, Ryan K C Yuen, Xin Jin, Mingbang Wang, Nong Chen, Xueli Wu, Jia Ju, Junpu Mei, Yujian Shi, Mingze He,[...]. Am J Hum Genet 2013
Yong-hui Jiang, Ryan K C Yuen, Xin Jin, Mingbang Wang, Nong Chen, Xueli Wu, Jia Ju, Junpu Mei, Yujian Shi, Mingze He,[...]. Am J Hum Genet 2013
9
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Eileen C P Lim, Maggie Brett, Angeline H M Lai, Siew-Peng Lee, Ee-Shien Tan, Saumya S Jamuar, Ivy S L Ng, Ene-Choo Tan. Hum Genomics 2015
Eileen C P Lim, Maggie Brett, Angeline H M Lai, Siew-Peng Lee, Ee-Shien Tan, Saumya S Jamuar, Ivy S L Ng, Ene-Choo Tan. Hum Genomics 2015
9
9
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
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
9
Initial sequencing and analysis of the human genome.
E S Lander, L M Linton, B Birren, C Nusbaum, M C Zody, J Baldwin, K Devon, K Dewar, M Doyle, W FitzHugh,[...]. Nature 2001
E S Lander, L M Linton, B Birren, C Nusbaum, M C Zody, J Baldwin, K Devon, K Dewar, M Doyle, W FitzHugh,[...]. Nature 2001
9
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
R Z Hayeems, R Babul-Hirji, N Hoang, R Weksberg, C Shuman. J Genet Couns 2016
9
Whole-genome and whole-exome sequencing in neurological diseases.
Jia-Nee Foo, Jian-Jun Liu, Eng-King Tan. Nat Rev Neurol 2012
Jia-Nee Foo, Jian-Jun Liu, Eng-King Tan. Nat Rev Neurol 2012
9
9
Charting a course for genomic medicine from base pairs to bedside.
Eric D Green, Mark S Guyer. Nature 2011
Eric D Green, Mark S Guyer. Nature 2011
9
DNA sequencing with chain-terminating inhibitors.
F Sanger, S Nicklen, A R Coulson. Proc Natl Acad Sci U S A 1977
F Sanger, S Nicklen, A R Coulson. Proc Natl Acad Sci U S A 1977
9
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.
Joanna S Amberger, Carol A Bocchini, François Schiettecatte, Alan F Scott, Ada Hamosh. Nucleic Acids Res 2015
Joanna S Amberger, Carol A Bocchini, François Schiettecatte, Alan F Scott, Ada Hamosh. Nucleic Acids Res 2015
9
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora J H Bean, Christin Collins, Alice K Tanner, Madhuri R Hegde. Ann Neurol 2015
Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora J H Bean, Christin Collins, Alice K Tanner, Madhuri R Hegde. Ann Neurol 2015
9
Diagnostic Yield of Intellectual Disability Gene Panels.
Heather Pekeles, Andrea Accogli, Nassima Boudrahem-Addour, Laura Russell, Fabienne Parente, Myriam Srour. Pediatr Neurol 2019
Heather Pekeles, Andrea Accogli, Nassima Boudrahem-Addour, Laura Russell, Fabienne Parente, Myriam Srour. Pediatr Neurol 2019
9
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray,[...]. Genome Med 2017
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray,[...]. Genome Med 2017
9
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Gail P Jarvik, Laura M Amendola, Jonathan S Berg, Kyle Brothers, Ellen W Clayton, Wendy Chung, Barbara J Evans, James P Evans, Stephanie M Fullerton, Carlos J Gallego,[...]. Am J Hum Genet 2014
Gail P Jarvik, Laura M Amendola, Jonathan S Berg, Kyle Brothers, Ellen W Clayton, Wendy Chung, Barbara J Evans, James P Evans, Stephanie M Fullerton, Carlos J Gallego,[...]. Am J Hum Genet 2014
9
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.