A copy number variation map of the human genome

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Items 201–300 of 940

1. Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk
   Brett M. Reid, Jennifer B. Permuth, Y. Ann Chen, Brooke L. Fridley, Edwin S. Iversen, Zhihua Chen, Heather Jim, Robert Alan Vierkant, Julie M. Cunningham, Jill S. Barnholtz‐Sloan et al. · 2019 · Cancer Epidemiology Biomarkers & Prevention
2. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
   Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, Jianhong Hu, Fritz Joachim Sedlazeck, Simon J. White, Daniel J. Schaid, Mariza de Andrade, Gail Pairitz Jarvik, David R. Crosslin et al. · 2019 · Genetics in Medicine
3. Identification of Copy Number Variation in Domestic Chicken Using Whole-Genome Sequencing Reveals Evidence of Selection in the Genome
   Donghyeok Seol, Byung June Ko, Bongsang Kim, Han‐Ha Chai, Dajeong Lim, Heebal Kim · 2019 · Animals
4. Neural networks enable efficient and accurate simulation-based inference of evolutionary parameters from adaptation dynamics
   Grace Avecilla, Julie N. Chuong, Fangfei Li, Gavin Sherlock, David Gresham, Yoav Ram · 2022 · PLoS Biology
5. Understanding Donor-derived Cell-free DNA in Kidney Transplantation: An Overview and Case-based Guide for Clinicians
   Alison S. Graver, Darren Lee, David A. Power, John B. Whitlam · 2022 · Transplantation
6. Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
   Maartje Pennings, Rowdy P. P. Meijer, Monique M. Gerrits, Jannie W.H. Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke I. Schouten, Nicol Cornelia Voermans et al. · 2023 · European Journal of Human Genetics
7. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
   Eduardo Pérez‐Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler, Padhraig Gormley, Andrea Ganna, Andrea Byrnes, Katharina Pernhorst et al. · 2017 · Journal of Medical Genetics
8. Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity
   Thanuja Selvanayagam, Susan Walker, Matthew J. Gazzellone, Barbara Kellam, Cheryl S. Cytrynbaum, Dimitri James Stavropoulos, Ping Li, Catherine S. Birken, Jill K. Hamilton, Rosanna Weksberg et al. · 2018 · European Journal of Human Genetics
9. The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders
   Francesca Scionti, Maria Teresa Di Martino, Licia Pensabene, Valentina Bruni, Daniela Concolino · 2018 · Microarrays
10. Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders
    Rui Zhang, Xiangbin Chen, Dong Wang, Xuan Chen, Chao Wang, Yuhong Zhang, Mengnan Xu, Jingcui Yu · 2019 · Journal of International Medical Research
11. Genomics models in radiotherapy: From mechanistic to machine learning
    John Kang, James T. T. Coates, Robert L. Strawderman, Barry S. Rosenstein, Sarah L. Kerns · 2020 · Medical Physics
12. Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
    Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali Jane Rochat, Alessandra Maresca et al. · 2024 · npj Genomic Medicine
13. Security Implications of Cyberphysical Flow-Based Microfluidic Biochips
    Jack Tang, Mohamed Ibrahim, Krishnendu Chakrabarty, Ramesh Karri · 2017 · Proceedings - Asian Test Symposium/Proceedings
14. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
    Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, Samantha M. Baxter, Katherine R. Chao, Moriel Singer‐Berk, Emily Groopman, Isaac Wong, Eleina M. England, Julia K. Goodrich et al. · 2024 · The American Journal of Human Genetics
15. Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans
    Lisa A. Lansdon, Benjamin W. Darbro, Aline Lourenço Petrin, Alissa M. Hulstrand, Jennifer M. Standley, Rachel B. Brouillette, Abby Long, Maria Adela Mansilla, Robert A. Cornell, Jeffrey C. Murray et al. · 2017 · Genetics
16. PCR amplicons identify widespread copy number variation in human centromeric arrays and instability in cancer
    Leonardo Gomes de Lima, Edmund Howe, Vijay Pratap Singh, Tamara Potapova, Hua Li, Baoshan Xu, Jemma Castle, Steve Crozier, Christine J. Harrison, Steven C. Clifford et al. · 2021 · Cell Genomics
17. The accuracy of cell‐free DNA screening for fetal segmental copy number variants: A systematic review and meta‐analysis
    Yvette C. Raymond, Melissa L. Acreman, Sofia Bussolaro, Ben W. Mol, Shavi Fernando, Melody A. Menezes, Fabrício da Silva Costa, Ilaria Fantasia, Daniel L. Rolnik · 2023 · BJOG An International Journal of Obstetrics & Gynaecology
18. CoNVaQ: a web tool for copy number variation-based association studies
    Simon J. Larsen, Luísa Matos do Canto, Sílvia Regina Rogatto, Jan Baumbach · 2018 · BMC Genomics
19. Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population
    Yi Cai, Karynne Patterson, Frédéric Reinier, Sarah E. Maurrasse, Elizabeth Blue, Michael J. Bamshad, Joseph Haddad · 2017 · Birth Defects Research
20. Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
    Chloe X. Yap, Gail A. Alvares, Anjali K. Henders, Tian Lin, Leanne M. Wallace, Alaina Farrelly, Tiana McLaren, Jolene Berry, Anna A. E. Vinkhuyzen, Maciej Trzaskowski et al. · 2021 · Molecular Autism
21. cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
    Pubudu Saneth Samarakoon, Hanne Sørmo Sorte, Asbjørg Stray‐Pedersen, Olaug Kristin Rødningen, Torbjørn Rognes, Robert Lyle · 2016 · BMC Genomics
22. Progress in finding pathogenic DNA copy number variations in dyslipidemia
    Michael A. Iacocca, Jacqueline S. Dron, Robert Alexander Hegele · 2019 · Current Opinion in Lipidology
23. Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects
    Beate Peter, Valentin Dinu, Li Liu, Matthew J. Huentelman, Marcus Naymik, Hope Sparks Lancaster, Caitlin Vose, Isabelle Schrauwen · 2019 · Behavior Genetics
24. Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia
    Jacqueline S. Dron, Jian Wang, Amanda J. Berberich, Michael A. Iacocca, Henian Cao, Ping Yang, Joan H.M. Knoll, Karine Tremblay, Diane Brisson, Christian Netzer et al. · 2018 · Journal of Lipid Research
25. Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients
    Yoonjung Kim, Mee-Yon Cho, Juwon Kim, Sung Nam Kim, Seoung Chul Oh, Kyung‐A Lee · 2017 · Oncotarget
26. Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137
    Emília Costa, Irene Plaza Pinto, Macks Wendhell Gonçalves, Juliana Ferreira da Silva, Lorraynne Guimarães Oliveira, Alex Silva da Cruz, Daniela de Melo e Silva, Cláudio Carlos da Silva, Rinaldo Wellerson Pereira, Aparecido Divino da Cruz · 2018 · Scientific Reports
27. Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease
    Svetlana Frenkel, Charles Noah Bernstein, Michael J. Sargent, Qin Kuang, Wenxin Jiang, John Wei, Bhooma Thiruvahindrapuram, Elizabeth Spriggs, Stephen W. Scherer, Pingzhao Hu · 2019 · PLoS ONE
28. Origins and Long-Term Patterns of Copy-Number Variation in Rhesus Macaques
    Gregg W.C. Thomas, Richard J. Wang, Jelena Nguyen, Ronald Alan Harris, Muthuswamy Raveendran, Jeffrey Rogers, Matthew W. Hahn · 2020 · Molecular Biology and Evolution
29. A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies
    Ruiyu Ma, Linbei Deng, Yan Xia, Xianda Wei, Yingxi Cao, Ruolan Guo, Rui Zhang, Jing Guo, Desheng Liang, Lingqian Wu · 2017 · Scientific Reports
30. Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy
    Heming Wu, Qingyan Huang, Xia Zhang, Zhikang Yu, Zhixiong Zhong · 2021 · Frontiers in Genetics
31. Integrated small copy number variations and epigenome maps of disorders of sex development
    Ina E. Amarillo, Nievera Isabelle, Andrew S. Hagan, Vishwa Huchthagowder, Jennifer M. Heeley, Abby Hollander, Joel F. Koenig, Paul F. Austin, Ting Wang · 2016 · Human Genome Variation
32. AMYCNE: Confident copy number assessment using whole genome sequencing data
    Jesper Eisfeldt, Daniel Nilsson, Johanna C. Andersson‐Assarsson, Anna Lindstrand · 2018 · PLoS ONE
33. Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome
    Paola Pontecorvi, Laura Bernardini, Anna Capalbo, Simona Ceccarelli, Francesca Megiorni, Enrica Vescarelli, Irene Bottillo, Nicoletta Preziosi, Maria Fabbretti, Giorgia Perniola et al. · 2021 · Scientific Reports
34. Critical evaluation of copy number variant calling methods using DNA methylation
    Varun Kilaru, Anna K. Knight, Şeyma Katrinli, Dawayland O. Cobb, Adriana Lori, Charles F. Gillespie, Adam X. Maihofer, Caroline M. Nievergelt, Anne Lang Dunlop, Karen N. Conneely et al. · 2019 · Genetic Epidemiology
35. Detection of copy number variants in African goats using whole genome sequence data
    Wilson Nandolo, Gábor Mészáros, María Wurzinger, Liveness Jessica Banda, Timothy Nthaziyake Gondwe, Henry Mulindwa, Helen N. Nakimbugwe, Emily L. Clark, M. Jennifer Woodward-Greene, Mei Liu et al. · 2021 · BMC Genomics
36. DNA methylation episignatures: insight into copy number variation
    Liselot van der Laan, Kathleen Rooney, Tessa M A Trooster, Marcel M. A. M. Mannens, Bekim Sadiković, Peter Henneman · 2022 · Epigenomics
37. Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank
    Josephine Mollon, Laura M. Schultz, Guillaume Huguet, Emma E. M. Knowles, Samuel R. Mathias, Amanda Rodrigue, Aaron F. Alexander‐Bloch, Zohra Saci, Martineau Jean‐Louis, Kuldeep Kumar et al. · 2022 · SSRN Electronic Journal
38. Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
    Stephanie Greer, Jacquelin Botello, Donna Hongo, Brynn Levy, Premal Shah, Matthew Rabinowitz, Danny E. Miller, Kate Im, Akash Kumar · 2023 · Journal of Translational Medicine
39. Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
    Yury A. Barbitoff, Mikhail O. Ushakov, Tatyana E. Lazareva, Yulia A. Nasykhova, Andrey Sergeyevich Glotov, Alexander V. Predeus · 2023 · Briefings in Bioinformatics
40. Complex DNA structures trigger copy number variation across the Plasmodium falciparum genome
    Adam C. Huckaby, Claire S Granum, Maureen A. Carey, Karol A. Szlachta, Basel Maher Al-Barghouthi, Yuh‐Hwa Wang, Jennifer L. Güler · 2018 · Nucleic Acids Research
41. Copy Number Variation in Tumor Cells and Extracellular DNA in Patients with Lung Adenocarcinoma
    Denis S. Kutilin, Т Г Айрапетова, Анистратов Павел Александрович, Пыльцин Сергей Петрович, Igor' Aleksandrovich Leyman, Nikolay Karnaukhov, Oleg Ivanovich Kit · 2019 · Bulletin of Experimental Biology and Medicine
42. Copy number variation: A prognostic marker for young patients with squamous cell carcinoma of the oral tongue
    Xiaolian Gu, Philip John Coates, Linda Boldrup, Lixiao Wang, Adam Krejčí, Ted R. Hupp, Robin Fåhræus, Lena Norberg‐Spaak, Nicola Sgaramella, Torben Wilms et al. · 2018 · Journal of Oral Pathology and Medicine
43. Copy Number Variations and Schizophrenia
    Kamila Szecówka, Błażej Misiak, Izabela Łaczmańska, Dorota Frydecka, Ahmed A. Moustafa · 2022 · Molecular Neurobiology
44. ECOLE: Learning to call copy number variants on whole exome sequencing data
    Berk Mandiracioglu, Furkan Özden, Gün Kaynar, Mehmet Alper Yılmaz, Can Alkan, A. Ercüment Çiçek · 2024 · Nature Communications
45. Type 2 diabetes mellitus disease risk genes identified by genome wide copy number variation scan in normal populations
    Manasa Prabhanjan, Raviraj V. Suresh, Megha N. Murthy, Nallur Basappa Ramachandra · 2016 · Diabetes Research and Clinical Practice
46. Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
    Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, Adeel Chaudhary, Yousif Ahmed Abutalib, Susan Walker, Christian R. Marshall, Daniele Merico, Melissa T. Carter, Stephen W. Scherer et al. · 2016 · American Journal of Medical Genetics Part A
47. MLPA-Based Analysis of Copy Number Variation in Plant Populations
    Anna Samelak-Czajka, Małgorzata Marszałek-Zeńczak, Małgorzata Marcinkowska, Piotr Kozłowski, Marek Figlerowicz, Agnieszka Żmieńko · 2017 · Frontiers in Plant Science
48. Detection and assessment of copy number variation using PacBio long-read and Illumina sequencing in New Zealand dairy cattle
    Christine Couldrey, Michael Keehan, Thomas Johnson, Kathryn Tiplady, A M Winkelman, Mathew D. Littlejohn, A. Scott, Kathryn E. Kemper, Ben J. Hayes, Stephen R. Davis et al. · 2017 · Journal of Dairy Science
49. Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects
    Benjamin L. Rambo‐Martin, Jennifer Gladys Mulle, David J. Cutler, Lora Jh Bean, Tracie C. Rosser, Kenneth J. Dooley, Clifford L. Cua, George T. Capone, Cheryl L. Maslen, Roger H. Reeves et al. · 2017 · G3 Genes Genomes Genetics
50. Psychotic symptoms in 16p11.2 copy‐number variant carriers
    Jutla, Amandeep, Turner, J. Blake, Green Snyder, LeeAnne, Chung, Wendy K., Veenstra‐VanderWeele, Jeremy · 2020 · Autism Research
51. High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study
    Yu Sun, Xiantao Ye, Yanjie Fan, Lili Wang, Xiaomei Luo, Huili Liu, Xueren Gao, Zhuwen Gong, Yu Wang, Wenjuan Qiu et al. · 2020 · Clinical Chemistry
52. Open source non‐invasive prenatal testing platform and its performance in a public health laboratory
    Peter Johansen, Stine Raith Richter, Marie Balslev‐Harder, Caroline Borregaard Miltoft, Ann Tabor, Morten Dunø, Susanne Kjærgaard · 2016 · Prenatal Diagnosis
53. First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data
    Francesca Genova, M. Longeri, Leslie A. Lyons, A. Bagnato, Maria Giuseppina Strillacci · 2018 · BMC Genomics
54. Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans
    Elena A. Vidal, Tomás C. Moyano, Bernabé I. Bustos, Eduardo Pérez‐Palma, Carol Moraga, Eleodoro Riveras, Alejandro Montecinos, Lorena Azócar, Daniela C. Soto, Mabel Vidal et al. · 2019 · Scientific Reports
55. The current state of prenatal detection of genetic conditions in congenital heart defects
    Tina O. Findley, Hope Northrup · 2021 · Translational Pediatrics
56. Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population
    Cristina Gug, Ioana Monica Mozos, Adrian Rațiu, Anca Tudor, Eusebiu Vlad Gorduza, Lavinia Caba, Miruna-Cristiana Gug, Catalina Cojocariu, Cristian George Furau, Gheorghe Otto Furău et al. · 2022 · Medicina
57. Genomic Landscape of Copy Number Variations and Their Associations with Climatic Variables in the World’s Sheep
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58. Copy number variation in fetal alcohol spectrum disorder
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59. Analysis of chromosome microstructures in products of conception associated with recurrent miscarriage
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60. The p53-inducible CLDN7 regulates colorectal tumorigenesis and has prognostic significance
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61. How does genetic variation modify ND-CNV phenotypes?
    Thomas J. Dinneen, Fiana Ní Ghrálaigh, Ruth Walsh, Lorna M. Lopez, Louise Gallagher · 2021 · Trends in Genetics
62. Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
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63. Genetic variation in placental insufficiency: What have we learned over time?
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64. Genetics of Inborn Errors of Immunity in highly consanguineous Middle Eastern and North African populations
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65. Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer
    Marcos Díaz‐Gay, Sebastià Franch‐Expósito, Coral Arnau‐Collell, Solip Park, Fran Supek, Jenifer Muñoz, Laia Bonjoch, Anna Gratacós-Mulleras, Paula Sánchez-Rojas, Clara Esteban-Jurado et al. · 2019 · Cancers
66. Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing
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67. Copy number variations and constitutional chromothripsis (Review)
    Aldina Brás, António Sebastião Rodrigues, José Rueff · 2020 · Biomedical Reports
68. Copy number variation and expression of exportin-4 associates with severity of fibrosis in metabolic associated fatty liver disease
    Mayada Metwally, Ali Bayoumi, Anis Khan, Leon Anton Adams, R. Aller, Carmelo García‐Monzón, M. Arias, Elisabetta Bugianesi, Luca Miele, Anna Alisi et al. · 2021 · EBioMedicine
69. Expression of epithelial-mesenchymal transition-related genes increases with copy number in multiple cancer types
    Min Zhao, Yining Liu, Hong Qu · 2016 · Oncotarget
70. Identification of Copy Number Variants from SNP Arrays Using PennCNV
    Fang Li, Kai Wang · 2018 · Methods in molecular biology
71. Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations
    Fernando M. Jabato, Pedro Seoane, James Richard Perkins, Elena Rojano, Adrián García-Moreno, Mónica Chagoyen, Florencio Pazos, Juan A. G. Ranea · 2020 · Human Genetics
72. Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability
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73. Segmental aneuploidies with 1 Mb resolution in human preimplantation blastocysts
    Pingyuan Xie, Ping Liu, Shuoping Zhang, Dehua Cheng, Dayang Chen, Yue‐Qiu Tan, Liang Hu, Yong Qiu, Shuang Zhou, Qi Ou-Yang et al. · 2022 · Genetics in Medicine
74. Gene copy number variation and pediatric mental health/neurodevelopment in a general population
    Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edward J. Higginbotham, John Wei, Sabah Shaikh, Nicole M. Roslin, Jeffrey R. MacDonald, Giovanna Pellecchia, Thomas Nalpathamkalam et al. · 2023 · Human Molecular Genetics
75. PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants
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76. Integration of Federated Learning and Blockchain in Healthcare: A Tutorial
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77. Systematic identification of phenotypically enriched loci using a patient network of genomic disorders
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78. AluScanCNV2: An R package for copy number variation calling and cancer risk prediction with next-generation sequencing data
    Taobo Hu, Si Chen, Ata Ullah, Hong Xue · 2018 · Genes & Diseases
79. Association between the copy number variation ofCCSER1gene and growth traits in ChineseCapra hircus(goat) populations
    Zijie Xu, Xianwei Wang, Xingya Song, Qingming An, Dahui Wang, Zijing Zhang, Xiaoting Ding, Zhi Yao, Eryao Wang, Xian Liu et al. · 2022 · Animal Biotechnology
80. Read-depth based approach on whole genome resequencing data reveals important insights into the copy number variation (CNV) map of major global buffalo breeds
    Sheikh Firdous Ahmad, Celus Chandrababu Shailaja, Sakshi Vaishnav, Amit Kumar, Gyanendra Kumar Gaur, Sarath Chandra Janga, Syed Mudasir Ahmad, Waseem Akram Malla, Triveni Dutt · 2023 · BMC Genomics
81. Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study
    Marcus Sokolowski, Jerzy Wasserman, Danuta Wasserman · 2016 · PLoS ONE
82. Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry
    Christian G. Bouwkamp, Anneke J.A. Kievit, Sander Markx, Joseph I. Friedman, Laura J. C. M. van Zutven, Rick van Minkelen, Terry Vrijenhoek, Bin Xu, Ineke M Sterrenburg-v.d.Nieuwegiessen, Joris A. Veltman et al. · 2017 · American Journal of Psychiatry
83. DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data
    Yeeok Kang, Seong-Hyeuk Nam, Kyung Park, Yoonjung Kim, Jong‐Won Kim, Eunjung Lee, Jung Min Ko, Kyung‐A Lee, In Ho Park · 2018 · BMC Bioinformatics
84. Genome-wide somatic copy number alteration analysis and database construction for cervical cancer
    Hong Luo, Xiaohan Xu, Jian Yang, Kun Wang, Chen Wang, Ping Yang, Haoyang Cai · 2020 · Molecular Genetics and Genomics
85. Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases
    Maria Yamasaki, Takashi Makino, Seik‐Soon Khor, Hiromi Toyoda, Taku Miyagawa, Xiaoxi Liu, Hitoshi Kuwabara, Yukiko Kano, Takafumi Shimada, Toshiro Sugiyama et al. · 2020 · BMC Medical Genomics
86. Genome-Wide Assessment Characteristics of Genes Overlapping Copy Number Variation Regions in Duroc Purebred Population
    Zhipeng Wang, Yuanyuan Guo, Tao Wang, Chaoxin Zhang, Shengwei Liu, Bing Zhang, Xue Li, Li'ang Yang, Qiusi Zhu, Wenwen Wang et al. · 2021 · Frontiers in Genetics
87. Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds
    Fabienne Charbit‐Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie‐Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven et al. · 2018 · PLoS ONE
88. Cerebral palsy as a childhood-onset neurological disorder caused by both genetic and environmental factors
    Nandini G Sandran, Nadia A. Badawi, Jozef Gécz, Clare L. van Eyk · 2024 · Seminars in Fetal and Neonatal Medicine
89. Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma
    Valeria Lo Faro, Jacoline B. ten Brink, Harold Snieder, Nomdo M. Jansonius, Arthur A B Bergen · 2021 · BMC Genomics
90. Copy Number Alteration Signatures As Biomarkers in Cancer: A Review
    Conor Giles Doran, Stephen R. Pennington · 2022 · Biomarkers in Medicine
91. Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development
    Sara Ferreira Pires, Juliana Sobral de Barros, Silvia Souza da Costa, Gabriel Bandeira do Carmo, Marília O. Scliar, André van Helvoort Lengert, Érica Boldrini, Sandra Regini Morini da Silva, Daniel Onofre Vidal, Mariana Camargo Maschietto et al. · 2023 · International Journal of Molecular Sciences
92. Copy number variations in endometrial cancer: from biological significance to clinical utility
    Erica Dugo, Francesco Piva, Matteo Giulietti, Luca Giannella, Andrea Ciavattini · 2024 · International Journal of Gynecological Cancer
93. DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously
    Moyra Smith · 2017 · Frontiers in Molecular Biosciences
94. iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes
    Atlas Khan, Qian Liu, Kai Wang · 2018 · BMC Bioinformatics
95. An accurate and powerful method for copy number variation detection
    Feifei Xiao, Xizhi Luo, Ning Hao, Yue Niu, Xiangjun Xiao, Guoshuai Cai, Christopher Ian Amos, Heping Zhang D · 2019 · Bioinformatics
96. Genomic Data in the Electronic Health Record
    Nephi Walton, Darren K. Johnson, Thomas Nate Person, Srikar Chamala · 2019 · Advances in Molecular Pathology
97. Genomic Copy Number Variation Study of Nine Macaca Species Provides New Insights into Their Genetic Divergence, Adaptation, and Biomedical Application
    Jing Li, Zhenxin Fan, Feichen Shen, Amanda L. Pendleton, Yang Song, Jinchuan Xing, Bisong Yue, Jeffrey M. Kidd, Jing Li · 2020 · Genome Biology and Evolution
98. Copy number variation (CNV) identification, interpretation, and database from Brazilian patients
    Victória Cabral Silveira Monteiro de Godoy, Fernanda Teixeira da Silva Bellucco, Mileny Esbravatti Stephano Colovati, Hélio R. de Oliveira-Júnior, Mariana Moysés‐Oliveira, Maria Isabel Melaragno · 2020 · Genetics and Molecular Biology
99. A Chinese multicenter retrospective study of isolated increased nuchal translucency associated chromosome anomaly and prenatal diagnostic suggestions
    Hua Jin, Juan Wang, Guoying Zhang, Hongyan Jiao, Jiansheng Zhu, Zhimin Li, Chen Chen, XuanPing Zhang, Huan Huang, Jiayin Wang · 2021 · Scientific Reports
100. Discovery of genomic variation across a generation
     Brett Trost, Livia Oliveira Loureiro, Stephen W. Scherer · 2021 · Human Molecular Genetics