Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
Times Cited: 490
Times Cited: 490
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
38
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
22
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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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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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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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
10
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
8
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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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
8
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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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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Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
Heng Li, Richard Durbin. Bioinformatics 2009
7
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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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
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
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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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Prenatal diagnosis by chromosomal microarray analysis.
Brynn Levy, Ronald Wapner. Fertil Steril 2018
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A copy number variation map of the human genome.
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
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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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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
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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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Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
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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
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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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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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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
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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
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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
8
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
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5
5
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
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Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.
Zirui Dong, Jun Zhang, Ping Hu, Haixiao Chen, Jinjin Xu, Qi Tian, Lu Meng, Yanchou Ye, Jun Wang, Meiyan Zhang,[...]. Genet Med 2016
Zirui Dong, Jun Zhang, Ping Hu, Haixiao Chen, Jinjin Xu, Qi Tian, Lu Meng, Yanchou Ye, Jun Wang, Meiyan Zhang,[...]. Genet Med 2016
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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
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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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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
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik-Glaska, Berten Ceulemans, J Helen Cross,[...]. Epilepsia 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.
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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Vincent Plagnol, James Curtis, Michael Epstein, Kin Y Mok, Emma Stebbings, Sofia Grigoriadou, Nicholas W Wood, Sophie Hambleton, Siobhan O Burns, Adrian J Thrasher,[...]. Bioinformatics 2012
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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
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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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
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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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
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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The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
Jonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla. Prenat Diagn 2013
Jonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla. Prenat Diagn 2013
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Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
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Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers,[...]. Nat Genet 2014
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers,[...]. Nat Genet 2014
4
Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.
Trilochan Sahoo, Natasa Dzidic, Michelle N Strecker, Sara Commander, Mary K Travis, Charles Doherty, R Weslie Tyson, Arturo E Mendoza, Mary Stephenson, Craig A Dise,[...]. Genet Med 2017
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto,[...]. Nat Genet 2017
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto,[...]. Nat Genet 2017
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Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.
Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui Zhang, Haoxian Li, Pu Yang, Jianguang Zhang, Zhuo Song, Genming Xu,[...]. J Mol Diagn 2014
Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui Zhang, Haoxian Li, Pu Yang, Jianguang Zhang, Zhuo Song, Genming Xu,[...]. J Mol Diagn 2014
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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
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
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Promises, pitfalls and practicalities of prenatal whole exome sequencing.
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty. Prenat Diagn 2018
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty. Prenat Diagn 2018
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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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Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.
Eleonora Napoli, Serena Russo, Laura Casula, Viola Alesi, Filomena Alessandra Amendola, Adriano Angioni, Antonio Novelli, Giovanni Valeri, Deny Menghini, Stefano Vicari. J Autism Dev Disord 2018
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40
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.