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1. Full Text Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
by Girirajan, Santhosh and Rosenfeld, Jill A and Coe, Bradley P and Parikh, Sumit and Friedman, Neil and Goldstein, Amy and Filipink, Robyn A and McConnell, Juliann S and Angle, Brad and Meschino, Wendy S and Nezarati, Marjan M and Asamoah, Alexander and Jackson, Kelly E and Gowans, Gordon C and Martin, Laura S and Martin, Judith A and Martin, Donna M and Carmany, Erin P and Stockton, David W and Schnur, Rhonda E and Penney, Lynette S and Raskin, Salmo and Leppig, Kathleen and Thiese, Heidi and Smith, Rosemarie and Aberg, Erika and Niyazov, Dmitriy M and Escobar, Luis F and El-Khechen, Dima and Johnson, Kisha D and Lebel, Robert R and Siefkas, Kiana and Ball, Susie and Shur, Natasha and McGuire, Marianne and Brasington, Campbell K and Spence, J. Edward and Clericuzio, Carol and Ballif, Blake C and Shaffer, Lisa G and Eichler, Evan E
The New England journal of medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, pp. 1321 - 1331
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Autistic Disorder - genetics | Oligonucleotide Array Sequence Analysis | Humans | Male | Developmental Disabilities - genetics | Genetic Heterogeneity | DNA Copy Number Variations | Intellectual Disability - genetics | Phenotype | Congenital Abnormalities - genetics | Comparative Genomic Hybridization | Sex Factors | Female | Genome, Human | Child | Schizophrenia | Autism | Genomes | Children | Hybridization | Genetic screening | Index Medicus | Abridged Index Medicus
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2. Full Text Pathogenic Germline Variants in 10,389 Adult Cancers
by Wu, Yige and Ritter, Deborah I and Wang, Jiayin and Paczkowska, Marta and Reynolds, Sheila and Wyczalkowski, Matthew A and Oak, Ninad and Scott, Adam D and Krassowski, Michal and Cherniack, Andrew D and Houlahan, Kathleen E and Jayasinghe, Reyka and McMichael, Joshua F and Hucthagowder, Vishwanathan and Hahn, Abigail and McLellan, Michael D and Al-Mulla, Fahd and Johnson, Kimberly J and Caesar-Johnson, Samantha J and Demchok, John A and Felau, Ina and Kasapi, Melpomeni and Ferguson, Martin L and Hutter, Carolyn M and Sofia, Heidi J and Yang, Liming and Zenklusen, Jean C and Zhang, Jiashan (Julia) and Chudamani, Sudha and Liu, Jia and Lolla, Laxmi and Wan, Yunhu and Cho, Juok and Frazer, Scott and Gehlenborg, Nils and Getz, Gad and Lawrence, Michael S and Lin, Pei and Meier, Sam and Noble, Michael S and Bernard, Brady and Chambwe, Nyasha and Knijnenburg, Theo and Kramer, Roger and Liu, Yuexin and Miller, Michael and Reynolds, Sheila and Akbani, Rehan and Broom, Bradley M and Ju, Zhenlin and Kanchi, Rupa S and Liang, Han and Liu, Wenbin and Mills, Gordon B and Ng, Kwok-Shing and Rao, Arvind and Wang, Jing and Weinstein, John N and Abeshouse, Adam and de Bruijn, Ino and Heins, Zachary J and Kundra, Ritika and Luna, Augustin and Nissan, Moriah G and Ochoa, Angelica and Phillips, Sarah M and Sander, Chris and Sumer, S. Onur and Sun, Yichao and Taylor, Barry S and Zhang, Hongxin and Benz, Christopher and Stuart, Joshua M and Yau, Christina and Parker, Joel S and Balasundaram, Miruna and Bowlby, Reanne and Carlsen, Rebecca and Chuah, Eric and Dhalla, Noreen and Holt, Robert and Jones, Steven J.M and Kasaian, Katayoon and Lee, Darlene and Ma, Yussanne and Marra, Marco A and Mayo, Michael and Moore, Richard A and Sipahimalani, Payal and Tam, Angela and Thiessen, Nina and Berger, Ashton C and Beroukhim, Rameen and Cibulskis, Carrie and Gabriel, Stacey B and Gao, Galen F and Schumacher, Steven E and Kucherlapati, Melanie H and Kucherlapati, Raju S and Baylin, Stephen and ... and The Cancer Genome Atlas Research Network and Canc Genome Atlas Res Network and Cancer Genome Atlas Research Network
Cell (Cambridge), ISSN 0092-8674, 04/2018, Volume 173, Issue 2, pp. 355 - 370.e14
cancer predisposition | LOH | variant pathogenicity | germline and somatic genomes | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Genetic Predisposition to Disease | Gene Frequency | Humans | Databases, Genetic | Genotype | Mutation, Missense | DNA Copy Number Variations | Loss of Heterozygosity - genetics | Proto-Oncogene Proteins c-met - genetics | Neoplasms - genetics | Gene Deletion | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Germ Cells - cytology | Polymorphism, Single Nucleotide | Germ Cells - metabolism | Neoplasms - pathology | Proto-Oncogene Proteins c-ret - genetics | Index Medicus | Cancer predisposition
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3. Full Text Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
by Marshall, Christian and Howrigan, D.P and Merico, Daniele and Thiruvahinapuram, Bhooma and Wu, W and Greer, D.S and Antaki, D and Shetty, A and Holmans, Peter A and Pinto, Duane and Gujral, M and Brandler, W.M and Malhotra, D and Wang, Z and Fuentes Fajarado, K.V and Maile, M.S and Ripke, Stephan and Agartz, Ingrid and Albus, Margot and Alexander, M and Amin, Farooq and Atkins, J and Bacanu, Silviu and Belliveau, Richard A and Bergen, Sarah and Bertalan, M and Bevilacqua, Elizabeth and Bigdeli, T.B and Black, Donald and Bruggeman, Richard and Buccola, Nancy G and Buckner, M and Bulik-Sullivan, Brendan and Byerley, William F and Cahn, Wiepke and Cai, G and Cairns, Murray J and Campion, Dominique and Cantor, R.M and Carr, Vaughan and Carrera, Noa and Catts, Stanley and Chambert, Kimberly and Cheng, Wei and Cloninger, C Robert and Cohen, David J and Cormican, Paul and Craddock, Nick and Crespo-Facorro, Benedicto and Crowley, James and Curtis, David and Davidson, Michael and Davis, Kenneth and Degenhardt, F and Del-Favero, Jurgen and Delisi, Lynn and Dikeos, Dimitris and Dinan, Timothy and Djurovic, S and Donohoe, Dennis and peau, Elodie and Duan, Jubao and Dudbridge, Frank and Eichhammer, Peter and Hagen, Knut and Escott-Price, Valentina and Essioux, Laurent and Fanous, Ayman H and Farh, Kai-How and Farrell, Martilias and Frank, Josef and Franke, Lude and Freedman, Robert and Freimer, Nelson and Friedman, Joseph and Forstner, Aneas and Fromer, M and Genovese, Giulio and Georgieva, Irina and Gershon, E.S and Giegling, Ina and Giusti-Roíguez, Paola and Godard, S and Goldstein, Jacqueline and Gratten, Jacob and Haan, Lieuwe and Hamshere, Marian and Hansen, Mark and Hansen, Thomas and Haroutunian, Vahram and Hartmann, Annette M and Henskens, Frans and Herms, Stefan and Hirschhorn, Joel and Hoffmann, Per and Hofman, Anea and Huang, Hailiang and Ikeda, Masashi and Joa, Inge and Kähler, Jan and ... and Schizophrenia Working Grp and Psychosis Endophenotypes and CNV and Psychosis Endophenotypes International Consortium and CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium
Nature genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 27 - 35
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | Schizophrenia - genetics | Genetic Markers - genetics | Humans | Risk Factors | Genetic Loci - genetics | Female | Genotype | Male | DNA Copy Number Variations - genetics | Case-Control Studies | Schizophrenia | Genome-wide association studies | Genetic aspects | Copy number variations | Analysis | Studies | Consortia | Datasets | Working groups | Pipelines | Genomics | Quality control | Data processing | Genomes | Meta-analysis | Index Medicus | Medicin och hälsovetenskap
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4. Full Text Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants
by Lefkowitz, Roy B., PhD and Tynan, John A., PhD and Liu, Tong, PhD and Wu, Yijin, PhD and Mazloom, Amin R., PhD and Almasri, Eyad, MS and Hogg, Grant, MS and Angkachatchai, Vach, PhD and Zhao, Chen, PhD and Grosu, Daniel S., MD and McLennan, Graham, MS and Ehrich, Mathias, MD
American journal of obstetrics and gynecology, ISSN 0002-9378, 2016, Volume 215, Issue 2, pp. 227.e1 - 227.e16
Obstetrics and Gynecology | cell-free DNA | genomewide | subchromosomal copy number variant | chromosomal copy number variant | noninvasive prenatal testing | microdeletions | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Humans | Middle Aged | Sequence Analysis, DNA | DNA Copy Number Variations | Pregnancy | Young Adult | Maternal Age | Karyotyping | Adolescent | Chromosome Aberrations | Chromosome Disorders - diagnosis | Adult | Chromosome Disorders - diagnostic imaging | Female | High-Throughput Nucleotide Sequencing | Retrospective Studies | Prenatal Diagnosis - methods | Pregnant women | Chromosomes | Genetic research | Index Medicus | Abridged Index Medicus
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5. Full Text Technical Validation of a Next-Generation Sequencing Assay for Detecting Clinically Relevant Levels of Breast Cancer–Related Single-Nucleotide Variants and Copy Number Variants Using Simulated Cell-Free DNA
by Yang, Xin and Chu, Yuxing and Zhang, Rui and Han, Yanxi and Zhang, Lucheng and Fu, Yu and Li, Dan and Peng, Rongxue and Li, Dongdong and Ding, Jiansheng and Li, Ziyang and Zhao, Meiru and Zhang, Kuo and Lu, Tian and Yi, Lang and Wu, Qisheng and Lin, Guigao and Xie, Jiehong and Liu, Tao and Yang, Ling and Yi, Xin and Li, Jinming
The Journal of molecular diagnostics : JMD, ISSN 1525-1578, 2017, Volume 19, Issue 4, pp. 525 - 536
Pathology | Life Sciences & Biomedicine | Science & Technology | High-Throughput Nucleotide Sequencing - economics | Reproducibility of Results | Breast Neoplasms - genetics | Humans | Sensitivity and Specificity | Female | Polymorphism, Single Nucleotide | Cell-Free Nucleic Acids - genetics | High-Throughput Nucleotide Sequencing - methods | DNA Copy Number Variations | Index Medicus
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6. Full Text Non-coding genetic variants in human disease
by Zhang, Feng and Lupski, James R
Human molecular genetics, ISSN 0964-6906, 10/2015, Volume 24, Issue 1, pp. R102 - R110
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Genome-Wide Association Study | Animals | Disease - genetics | Humans | Regulatory Sequences, Nucleic Acid | Polymorphism, Single Nucleotide | DNA Copy Number Variations | Index Medicus | Invited Reviews
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7. Full Text Copy number variants in Alzheimer's disease
by Cuccaro, Denis and De Marco, Elvira Valeria and Cittadella, Rita and Cavallaro, Sebastiano
Journal of Alzheimer's disease, ISSN 1387-2877, 2016, Volume 55, Issue 1, pp. 37 - 52
genome | mutation | Alzheimer's disease | comparative genomic hybridization | copy number variations | genome wide association studies | gene expression | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Animals | Alzheimer Disease - genetics | Humans | DNA Copy Number Variations | Neurodegenerative diseases | Research programs | Copy number | Memory | Cognition | Heredity | Genomes | Older people | Computer applications | Genetics | Deoxyribonucleic acid--DNA | Geriatrics | Index Medicus
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