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Nature Genetics, ISSN 1061-4036, 02/2015, Volume 47, Issue 2, p. 100
  The authors used iPSCs derived from patients with disease-associated large CNVs, differentiated them into relevant cell lineages and carried out... 
Transcription factors | Disease | Genes | Genomics | Stem cells | Genomes | Behavior
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2012, Volume 109, Issue 44, p. 18018
  Genetic variation between individuals has been extensively investigated, but differences between tissues within individuals are far less understood. It is... 
Tissue | Biological variation | Genomics | Genetic diversity | Comparative analysis | Cells
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2012, Volume 109, Issue 44, pp. 18018 - 18023
Journal Article
BMC Genomics, ISSN 1471-2164, 04/2017, Volume 18, Issue 1, pp. 321 - 14
Background: High-resolution microarray technology is routinely used in basic research and clinical practice to efficiently detect copy number variants (CNVs)... 
Array Comparative Genome Hybridization (aCGH) | Copy Number Variation (CNV) | SNP array | SNP | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CHROMOSOMAL MICROARRAY ANALYSIS | GENES | GENETICS & HEREDITY | PLURIPOTENCY | STRUCTURAL VARIATION | Cytogenetics | Oligonucleotide Array Sequence Analysis - methods | Genomics | Humans | Genome, Human - genetics | DNA Copy Number Variations | Usage | Copy number variations | Body, Human | Array processors | Genetic aspects | Comparative analysis | Health aspects | Cell culture | Panels | Size distribution | High resolution | Copy number | Tissue culture | Statistical methods | Hybridization | Assaying | Epidemiology | Consortia | Design | Reproduction (copying) | Diagnosis | Chromosomes | Bioinformatics | Probes | Automotive components | Deoxyribonucleic acid--DNA | Platforms | Benign | Nucleic acids | Gene expression | Studies | Polymerase chain reaction | Prenatal diagnosis | DNA microarrays | Stem cells | Computer applications | Software | Aberration | Arrays | Chromosome aberrations | Cell proliferation | Biotechnology | Laboratories | Exons | Genes | Data storage | Genomes | Confidence intervals | Clonal deletion | Deletion | Hum | Statistical analysis | Data processing | Computer programs | Bins | Algorithms | Alu elements | Cost analysis | Inhibitory postsynaptic potentials
Journal Article
Journal Article
by Mills, Ryan E and Walter, Klaudia and Stewart, Chip and Handsaker, Robert E and Chen, Ken and Alkan, Can and Abyzov, Alexej and Yoon, Seungtai Chris and Ye, Kai and Cheetham, R. Keira and Chinwalla, Asif and Conrad, Donald F and Fu, Yutao and Grubert, Fabian and Hajirasouliha, Iman and Hormozdiari, Fereydoun and Iakoucheva, Lilia M and Iqbal, Zamin and Kang, Shuli and Kidd, Jeffrey M and Konkel, Miriam K and Korn, Joshua and Khurana, Ekta and Kural, Deniz and Lam, Hugo Y. K and Leng, Jing and Li, Ruiqiang and Li, Yingrui and Lin, Chang-Yun and Luo, Ruibang and Mu, Xinmeng Jasmine and Nemesh, James and Peckham, Heather E and Rausch, Tobias and Scally, Aylwyn and Shi, Xinghua and Stromberg, Michael P and Sütz, Adrian M and Urban, Alexander Eckehart and Walker, Jerilyn A and Wu, Jiantao and Zhang, Yujun and Zhang, Zhengdong D and Batzer, Mark A and Ding, Li and Marth, Gabor T and McVean, Gil and Sebat, Jonathan and Snyder, Michael and Wang, Jun and Ye, Kenny and Eichler, Evan E and Gerstein, Mark B and Hurles, Matthew E and Lee, Charles and McCarroll, Steven A and Korbel, Jan O and Collins, Francis S and Altshuler, D.L and Durbin, R.M and Abecasis, G.R and Bentley, D.R and Chakravarti, A and Clark, A.G and De La Vega, F.M and Donnelly, P and Egholm, M and Flicek, P and Gabriel, S.B and Gibbs, R.A and Knoppers, B.M and Lander, E.S and Lehrach, H and Mardis, E.R and McVean, G.A and Nickerson, D.A and Peltonen, L and Schafer, A.J and Sherry, S.T and Wilson, R.K and Deiros, D and Metzker, M and Muzny, D and Reid, J and Wheeler, D and Li, J and Jian, M and Li, G and Liang, H and Tian, G and Wang, B and Wang, W and Yang, H and Zhang, X and Zheng, H and Ambrogio, L and Bloom, T and Cibulskis, K and Fennell, T.J and Jaffe, D.B and ... and 1000 Genomes Project
Nature, ISSN 0028-0836, 02/2011, Volume 470, Issue 7332, pp. 59 - 65
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2009, Volume 106, Issue 29, pp. 12031 - 12036
Journal Article
PLoS Genetics, ISSN 1553-7390, 11/2008, Volume 4, Issue 11
  Olfactory receptors (ORs), which are involved in odorant recognition, form the largest mammalian protein superfamily. The genomic content of OR genes is... 
Signal transduction | Genetics | Evolution | Gene loci | Genomes | Experiments
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2008, Volume 105, Issue 40, p. 15499
  Highly specific amplification of complex DNA pools without bias or template-independent products (TIPs) remains a challenge. We have developed a method using... 
Accuracy | DNA polymerase | Genomics | Hybridization | Comparative analysis | Chromosomes | Cells
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2008, Volume 105, Issue 40, pp. 15499 - 15504
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 06/2007, Volume 104, Issue 24, p. 10110
  Copy-number variants (CNVs) are an abundant form of genetic variation in humans. However, approaches for determining exact CNV breakpoint sequences (physical... 
Studies | Genotype & phenotype | Genomics | Genes | Genetic research
Journal Article
Journal of Child Psychology and Psychiatry, ISSN 0021-9630, 04/2011, Volume 52, Issue 4, pp. 504 - 516
The study of the developing brain has begun to shed light on the underpinnings of both early and adult onset neuropsychiatric disorders. Neuroimaging of the... 
Developmental neurobiology | induced pluripotent stem cells | copy number variation | neural stem cells | neurons | next generation sequencing | Neural stem cells | Copy number variation | Induced pluripotent stem cells | Neurons | Next generation sequencing | Intervention | Brain | Biotechnology | Diagnostic Tests | Cytology | Drug Therapy | Anatomy | Patients | Scientific Research | Anxiety Disorders | Attention Deficit Hyperactivity Disorder | Pervasive Developmental Disorders | Mental Disorders | Genetics | Mental Disorders - therapy | Brain - physiopathology | Humans | Pluripotent Stem Cells - physiology | Brain Diseases - genetics | Male | DNA Copy Number Variations - genetics | Brain Diseases - physiopathology | Stem Cell Research | Mental Disorders - physiopathology | Pregnancy | Genomic Structural Variation | Mental Disorders - genetics | Animals | Brain Diseases - therapy | Epigenesis, Genetic - genetics | Neurons - physiology | Adult | Female | Models, Genetic | Child | Infant, Newborn | Neuropsychiatry - trends | Disease Models, Animal | Medical research | Child development | Neurobiology | Stem cells | Neuroimaging | Obsessive compulsive disorder | Mental disorders | Attention deficit hyperactivity disorder | Tissue culture | Nervous system | Autism | Somatic cells | Differentiation | Inhibitory postsynaptic potentials
Journal Article