Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
Times Cited: 549
Times Cited: 549
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
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
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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
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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
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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
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
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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
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
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European guidelines for constitutional cytogenomic analysis.
Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings. Eur J Hum Genet 2019
Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings. Eur J Hum Genet 2019
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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.
Sarah T South, Charles Lee, Allen N Lamb, Anne W Higgins, Hutton M Kearney. Genet Med 2013
Sarah T South, Charles Lee, Allen N Lamb, Anne W Higgins, Hutton M Kearney. Genet Med 2013
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Prenatal diagnosis by chromosomal microarray analysis.
Brynn Levy, Ronald Wapner. Fertil Steril 2018
Brynn Levy, Ronald Wapner. Fertil Steril 2018
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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
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
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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
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
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The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
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When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger,[...]. Genet Med 2018
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger,[...]. Genet Med 2018
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Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
Heng Li, Richard Durbin. Bioinformatics 2009
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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
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
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Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis.
M Grande, F A R Jansen, Y J Blumenfeld, A Fisher, A O Odibo, M C Haak, A Borrell. Ultrasound Obstet Gynecol 2015
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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
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
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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
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
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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
Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo, Anna Capalbo, Tiziana Filippi, John C Carey. Eur J Paediatr Neurol 2013
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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang,[...]. Am J Hum Genet 2014
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5
The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
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Genetic studies in intellectual disability and related disorders.
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Cut-off value of nuchal translucency as indication for chromosomal microarray analysis.
I Maya, S Yacobson, S Kahana, J Yeshaya, T Tenne, I Agmon-Fishman, L Cohen-Vig, M Shohat, L Basel-Vanagaite, R Sharony. Ultrasound Obstet Gynecol 2017
I Maya, S Yacobson, S Kahana, J Yeshaya, T Tenne, I Agmon-Fishman, L Cohen-Vig, M Shohat, L Basel-Vanagaite, R Sharony. Ultrasound Obstet Gynecol 2017
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Increased nuchal translucency with normal karyotype.
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Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction.
Hui Zhu, Shaobin Lin, Linhuan Huang, Zhiming He, Xuan Huang, Yi Zhou, Qun Fang, Yanmin Luo. Prenat Diagn 2016
Hui Zhu, Shaobin Lin, Linhuan Huang, Zhiming He, Xuan Huang, Yi Zhou, Qun Fang, Yanmin Luo. Prenat Diagn 2016
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Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature.
M C de Wit, M I Srebniak, L C P Govaerts, D Van Opstal, R J H Galjaard, A T J I Go. Ultrasound Obstet Gynecol 2014
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Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis.
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.
Olivier Vanakker, Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Claude Bandelier, Bettina Blaumeiser, Saskia Bulk, Jean-Hubert Caberg, Anne De Leener,[...]. Eur J Med Genet 2014
Olivier Vanakker, Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Claude Bandelier, Bettina Blaumeiser, Saskia Bulk, Jean-Hubert Caberg, Anne De Leener,[...]. Eur J Med Genet 2014
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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
Melanie Manning, Louanne Hudgins. Genet Med 2010
Melanie Manning, Louanne Hudgins. Genet Med 2010
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Association of copy number variants with specific ultrasonographically detected fetal anomalies.
Jennifer C Donnelly, Lawrence D Platt, Andrei Rebarber, Julia Zachary, William A Grobman, Ronald J Wapner. Obstet Gynecol 2014
Jennifer C Donnelly, Lawrence D Platt, Andrei Rebarber, Julia Zachary, William A Grobman, Ronald J Wapner. Obstet Gynecol 2014
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Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies.
C-N Lee, S-Y Lin, C-H Lin, J-C Shih, T-H Lin, Y-N Su. BJOG 2012
C-N Lee, S-Y Lin, C-H Lin, J-C Shih, T-H Lin, Y-N Su. BJOG 2012
4
Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.
Lena Sagi-Dain, Idit Maya, Adi Reches, Ayala Frumkin, Julia Grinshpun-Cohen, Reeval Segel, Esther Manor, Morad Khayat, Tamar Tenne, Ehud Banne,[...]. Obstet Gynecol 2018
Lena Sagi-Dain, Idit Maya, Adi Reches, Ayala Frumkin, Julia Grinshpun-Cohen, Reeval Segel, Esther Manor, Morad Khayat, Tamar Tenne, Ehud Banne,[...]. Obstet Gynecol 2018
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Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis.
L J Salomon, A Sotiriadis, C B Wulff, A Odibo, R Akolekar. Ultrasound Obstet Gynecol 2019
L J Salomon, A Sotiriadis, C B Wulff, A Odibo, R Akolekar. Ultrasound Obstet Gynecol 2019
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Committee Opinion No.682: Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology.
. Obstet Gynecol 2016
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4
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker,[...]. Prenat Diagn 2018
Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker,[...]. Prenat Diagn 2018
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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
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The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew G Sampson,[...]. Nat Genet 2019
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew G Sampson,[...]. Nat Genet 2019
6
Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis.
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras. Fetal Diagn Ther 2018
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras. Fetal Diagn Ther 2018
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Karyotype versus microarray testing for genetic abnormalities after stillbirth.
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Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
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Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
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Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
G Bradley Schaefer, Nancy J Mendelsohn. Genet Med 2013
G Bradley Schaefer, Nancy J Mendelsohn. Genet Med 2013
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck,[...]. Genet Med 2019
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Debra D'Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M Maillard, W Andrew Faucett, Aurélien Macé,[...]. JAMA Psychiatry 2016
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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
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
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Structural variation of chromosomes in autism spectrum disorder.
Christian R Marshall, Abdul Noor, John B Vincent, Anath C Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren,[...]. Am J Hum Genet 2008
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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M B Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö,[...]. Genome Med 2019
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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
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4
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.