A citation-based method for searching scientific literature

Shirley S W Cheng, Kelvin Y K Chan, Kelphen K P Leung, Patrick K C Au, Wai-Keung Tam, Samuel K M Li, Ho-Ming Luk, Anita S Y Kan, Brian H Y Chung, Ivan F M Lo, Mary H Y Tang. Am J Med Genet C Semin Med Genet 2019
Times Cited: 12







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



Times Cited
  Times     Co-cited
Similarity


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
41

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, H E Shamseldin, N Patel, M Hashem, N Ibrahim, F Abdulwahab,[...]. Mol Psychiatry 2017
106
33


Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Maya Kuperberg, Dorit Lev, Lubov Blumkin, Ayelet Zerem, Mira Ginsberg, Ilan Linder, Nirit Carmi, Sarah Kivity, Tally Lerman-Sagie, Esther Leshinsky-Silver. J Child Neurol 2016
30
25

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
103
25

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L Toler, Emily Fassi, Elise Fiala, Sarah Brown, Charles W Goss, Marcia Willing,[...]. Genet Med 2017
47
25

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lilian Kaufmann, Christine Fischer, Christian Thiel, Thomas Opladen, Urania Kotzaeridou,[...]. Mol Genet Metab 2017
27
25

Clinical whole exome sequencing in child neurology practice.
Siddharth Srivastava, Julie S Cohen, Hilary Vernon, Kristin Barañano, Rebecca McClellan, Leila Jamal, SakkuBai Naidu, Ali Fatemi. Ann Neurol 2014
156
25

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
167
25

Exome sequencing can improve diagnosis and alter patient management.
Tracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E Schaffer, Jesus Olvera, Vineet Bafna, Maha S Zaki, Ghada H Abdel-Salam,[...]. Sci Transl Med 2012
182
25

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
200
25



Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
J Thevenon, Y Duffourd, A Masurel-Paulet, M Lefebvre, F Feillet, S El Chehadeh-Djebbar, J St-Onge, A Steinmetz, F Huet, M Chouchane,[...]. Clin Genet 2016
126
25

The usefulness of whole-exome sequencing in routine clinical practice.
Alejandro Iglesias, Kwame Anyane-Yeboa, Julia Wynn, Ashley Wilson, Megan Truitt Cho, Edwin Guzman, Rebecca Sisson, Claire Egan, Wendy K Chung. Genet Med 2014
128
25

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
138
25

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
313
25


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
287
25

A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
805
25

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Sophie Nambot, Julien Thevenon, Paul Kuentz, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Daphné Lehalle, Nolwenn Jean-Marçais,[...]. Genet Med 2018
78
25


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
119
16

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
16

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Erin L Heinzen, Rodney A Radtke, Thomas J Urban, Gianpiero L Cavalleri, Chantal Depondt, Anna C Need, Nicole M Walley, Paola Nicoletti, Dongliang Ge, Claudia B Catarino,[...]. Am J Hum Genet 2010
175
16

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Heather C Mefford, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, Andre Franke, Alain Malafosse, Pierre Genton, Pierre Thomas,[...]. PLoS Genet 2010
328
16

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Reinhard Ullmann, Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce Tonge, Carla Rosenberg, Michael Field, Angela M Vianna-Morgante, Louise Christie, Ana C Krepischi-Santos,[...]. Hum Mutat 2007
206
16

Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing.
Jing Wang, Lin Chen, Cong Zhou, Li Wang, Hanbing Xie, Yuanyuan Xiao, Hongmei Zhu, Ting Hu, Zhu Zhang, Qian Zhu,[...]. Am J Obstet Gynecol 2018
27
16

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
Carolien G F de Kovel, Holger Trucks, Ingo Helbig, Heather C Mefford, Carl Baker, Costin Leu, Christian Kluck, Hiltrud Muhle, Sarah von Spiczak, Philipp Ostertag,[...]. Brain 2010
313
16

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
F D Hannes, A J Sharp, H C Mefford, T de Ravel, C A Ruivenkamp, M H Breuning, J-P Fryns, K Devriendt, G Van Buggenhout, A Vogels,[...]. J Med Genet 2009
201
16

The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Devin M Cox, Merlin G Butler. Int J Mol Sci 2015
95
16

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
355
16

Association between microdeletion and microduplication at 16p11.2 and autism.
Lauren A Weiss, Yiping Shen, Joshua M Korn, Dan E Arking, David T Miller, Ragnheidur Fossdal, Evald Saemundsen, Hreinn Stefansson, Manuel A R Ferreira, Todd Green,[...]. N Engl J Med 2008
16

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Lluís Armengol, Julián Nevado, Clara Serra-Juhé, Alberto Plaja, Carmen Mediano, Fe Amalia García-Santiago, Manel García-Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado,[...]. Hum Genet 2012
61
16

ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?
Sara B Hay, Trilochan Sahoo, Mary K Travis, Karine Hovanes, Natasa Dzidic, Charles Doherty, Michelle N Strecker. Prenat Diagn 2018
31
16

Estimates of penetrance for recurrent pathogenic copy-number variations.
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
185
16

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
Lisa G Shaffer, Mindy P Dabell, Allan J Fisher, Justine Coppinger, Anne M Bandholz, Jay W Ellison, J Britt Ravnan, Beth S Torchia, Blake C Ballif, Jill A Rosenfeld. Prenat Diagn 2012
136
16

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Douglas M Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J Karczewski, David Kavanagh, Kaitlin E Samocha, Mark J Daly, Daniel G MacArthur, Menachem Fromer, Shaun M Purcell. Nat Genet 2016
108
16

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in fetuses with ultrasound anomalies in the urinary system.
Ting Hu, Zhu Zhang, Jiamin Wang, Qinqin Li, Hongmei Zhu, Yi Lai, He Wang, Shanling Liu. Prenat Diagn 2019
9
22


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
195
16

Diagnosis and management of epileptic encephalopathies in children.
Puneet Jain, Suvasini Sharma, Manjari Tripathi. Epilepsy Res Treat 2013
12
16

Rapid whole genome sequencing and precision neonatology.
Joshua E Petrikin, Laurel K Willig, Laurie D Smith, Stephen F Kingsmore. Semin Perinatol 2015
102
16

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
C Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A Johnson, Yaping Qian, Abhinav Mathur, Chao Wei, Subba Rao Indugula, Fanggeng Zou, Haiying Meng,[...]. Front Pediatr 2015
105
16

Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation.
Larissa Shamseer, David Moher, Mike Clarke, Davina Ghersi, Alessandro Liberati, Mark Petticrew, Paul Shekelle, Lesley A Stewart. BMJ 2015
16

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Aurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, Ange-Line Bruel, Alice Masurel-Paulet, Nolwenn Jean, Sophie Nambot, Marjorie Willems, Laetitia Lambert, Salima El Chehadeh-Djebbar,[...]. Eur J Med Genet 2017
12
16

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
38
16

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
David Bick, Pamela C Fraser, Michael F Gutzeit, Jeremy M Harris, Tina M Hambuch, Daniel C Helbling, Howard J Jacob, Juliet N Kersten, Steven R Leuthner, Thomas May,[...]. J Pediatr Genet 2017
34
16

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Marta Córdoba, Sergio Alejandro Rodriguez-Quiroga, Patricia Analía Vega, Valeria Salinas, Josefina Perez-Maturo, Hernán Amartino, Cecilia Vásquez-Dusefante, Nancy Medina, Dolores González-Morón, Marcelo Andrés Kauffman. PLoS One 2018
28
16

Effect of Kasai procedure on hepatic outcome in Alagille syndrome.
Adam J Kaye, Elizabeth B Rand, Pedro S Munoz, Nancy B Spinner, Alan W Flake, Binita M Kamath. J Pediatr Gastroenterol Nutr 2010
39
16


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.