A citation-based method for searching scientific literature

Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings. Eur J Hum Genet 2019
Times Cited: 36







List of co-cited articles
62 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
22

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
527
19

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
16

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
183
13


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
660
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
122
8

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
Stefano D'Arrigo, Francesco Gavazzi, Enrico Alfei, Orsetta Zuffardi, Cristina Montomoli, Barbara Corso, Erika Buzzi, Francesca L Sciacca, Sara Bulgheroni, Daria Riva,[...]. J Child Neurol 2016
22
13


Global variation in copy number in the human genome.
Richard Redon, Shumpei Ishikawa, Karen R Fitch, Lars Feuk, George H Perry, T Daniel Andrews, Heike Fiegler, Michael H Shapero, Andrew R Carson, Wenwei Chen,[...]. Nature 2006
8

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
813
8

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
Mireille Claustres, Viktor Kožich, Els Dequeker, Brain Fowler, Jayne Y Hehir-Kwa, Konstantin Miller, Cor Oosterwijk, Borut Peterlin, Conny van Ravenswaaij-Arts, Uwe Zimmermann,[...]. Eur J Hum Genet 2014
61
8

Prenatal diagnosis by chromosomal microarray analysis.
Brynn Levy, Ronald Wapner. Fertil Steril 2018
96
8


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
843
8

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
78
5

Cytogenetic Nomenclature and Reporting.
Marian Stevens-Kroef, Annet Simons, Katrina Rack, Rosalind J Hastings. Methods Mol Biol 2017
15
13

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
5

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
5

Primer3--new capabilities and interfaces.
Andreas Untergasser, Ioana Cutcutache, Triinu Koressaar, Jian Ye, Brant C Faircloth, Maido Remm, Steven G Rozen. Nucleic Acids Res 2012
5

ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
5

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
186
5


Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.
Isabel Marques Carreira, Susana Isabel Ferreira, Eunice Matoso, Luís Miguel Pires, José Ferrão, Ana Jardim, Alexandra Mascarenhas, Marta Pinto, Nuno Lavoura, Cláudia Pais,[...]. Mol Cytogenet 2015
13
15

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
154
5

Molecular cytogenetics and cytogenomics of brain diseases.
I Y Iourov, S G Vorsanova, Y B Yurov. Curr Genomics 2008
45
5



Pathway-based classification of genetic diseases.
Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov. Mol Cytogenet 2019
10
20


A Postgenomic Perspective on Molecular Cytogenetics.
Henry H Heng, Steven D Horne, Sophia Chaudhry, Sarah M Regan, Guo Liu, Batoul Y Abdallah, Christine J Ye. Curr Genomics 2018
12
16

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
290
5

Diagnostic implications of genetic copy number variation in epilepsy plus.
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik-Glaska, Berten Ceulemans, J Helen Cross,[...]. Epilepsia 2019
30
6

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Magdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Marta Kędzior, Joanna Bernaciak, Kamila Ziemkiewicz, Tomasz Gambin, Maciej Sykulski, Natalia Bezniakow,[...]. J Appl Genet 2014
30
6

Copy number variation in human health, disease, and evolution.
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
700
5

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
372
5

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
132
5

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
183
5

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
Jin Sook Lee, Hee Hwang, Soo Yeon Kim, Ki Joong Kim, Jin Sun Choi, Mi Jung Woo, Young Min Choi, Jong Kwan Jun, Byung Chan Lim, Jong Hee Chae. Ann Lab Med 2018
15
13

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
174
5

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
120
5

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.
Ron Hochstenbach, Ellen van Binsbergen, Heleen Schuring-Blom, Arjan Buijs, Hans Kristian Ploos van Amstel. Eur J Med Genet 2019
6
33

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott,[...]. Nat Genet 2017
132
5

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Beata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, Birgit Sikkema-Raddatz, John A Crolla, Reinhilde Thoelen, Marije Koopmans, Nicolette den Hollander, Arie van Haeringen, Anne-Marie van der Kevie-Kersemaekers,[...]. Eur J Hum Genet 2012
54
5

Universal chromosomal microarray analysis reveals high proportion of copy-number variants in low-risk pregnancies.
S Stern, N Hacohen, V Meiner, S Yagel, S Zenvirt, S Shkedi-Rafid, M Macarov, D V Valsky, S Porat, N Yanai,[...]. Ultrasound Obstet Gynecol 2021
9
22

Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.
Lena Sagi-Dain, Lital Cohen Vig, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifat Agmon-Fishman, Cochava Klein, Reut Matar, Lina Basel-Salmon, Idit Maya. Genet Med 2019
32
6

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
5

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.
S C Hillman, D J McMullan, G Hall, F S Togneri, N James, E J Maher, C H Meller, D Williams, R J Wapner, E R Maher,[...]. Ultrasound Obstet Gynecol 2013
157
5

Women's experiences receiving abnormal prenatal chromosomal microarray testing results.
Barbara A Bernhardt, Danielle Soucier, Karen Hanson, Melissa S Savage, Laird Jackson, Ronald J Wapner. Genet Med 2013
133
5

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.
Christa Lese Martin, Karen E Wain, Matthew T Oetjens, Kasia Tolwinski, Emily Palen, Abby Hare-Harris, Lukas Habegger, Evan K Maxwell, Jeffrey G Reid, Lauren Kasparson Walsh,[...]. JAMA Psychiatry 2020
13
15


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.