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Strategies for the detection of copy number and other structural variants in the human genome.
- Published in:
- Human Genomics, 2006, v. 2, n. 6, p. 403, doi. 10.1186/1479-7364-2-6-403
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- Publication type:
- Article
Interpretable Machine Learning Reveals Dissimilarities Between Subtypes of Autism Spectrum Disorder.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.618277
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- Publication type:
- Article
Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1436, doi. 10.1111/j.1528-1167.2012.03536.x
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- Publication type:
- Article
Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9392, doi. 10.3390/ijms23169392
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- Publication type:
- Article
Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.
- Published in:
- 2014
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- Publication type:
- journal article
Abolished InsP<sub>3</sub> R2 function inhibits sweat secretion in both humans and mice.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 11, p. 4773, doi. 10.1172/JCI70720
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- Publication type:
- Article
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.
- Published in:
- Human Genetics, 2021, v. 140, n. 5, p. 775, doi. 10.1007/s00439-020-02242-3
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- Publication type:
- Article
Exploring autoantibody signatures in brain tissue from patients with severe mental illness.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01079-8
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- Publication type:
- Article
One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.
- Published in:
- 2016
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- Publication type:
- journal article
The Database of Genomic Variants: a curated collection of structural variation in the human genome.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. D1, p. D986, doi. 10.1093/nar/gkt958
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- Publication type:
- Article
Exome RNA sequencing reveals rare and novel alternative transcripts.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 1, p. e6, doi. 10.1093/nar/gks816
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- Publication type:
- Article
CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28244-5
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- Publication type:
- Article
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 10, doi. 10.1002/ajmg.b.32574
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- Publication type:
- Article
Public data archives for genomic structural variation.
- Published in:
- 2010
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- Publication type:
- Letter
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma.
- Published in:
- Nature Genetics, 2009, v. 41, n. 4, p. 465, doi. 10.1038/ng.336
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- Publication type:
- Article
Challenges and standards in integrating surveys of structural variation.
- Published in:
- Nature Genetics, 2007, v. 39, p. S7, doi. 10.1038/ng2093
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- Publication type:
- Article
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- Published in:
- Nature Genetics, 2007, v. 39, n. 3, p. 319, doi. 10.1038/ng1985
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- Publication type:
- Article
Genome assembly comparison identifies structural variants in the human genome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1413, doi. 10.1038/ng1921
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- Publication type:
- Article
Detection of large-scale variation in the human genome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 949, doi. 10.1038/ng1416
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- Publication type:
- Article
Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain.
- Published in:
- Nature Structural & Molecular Biology, 2011, v. 18, n. 12, p. 1435, doi. 10.1038/nsmb.2143
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- Publication type:
- Article
Long-read whole-genome analysis of human single cells.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40898-3
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- Publication type:
- Article
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
- Published in:
- Genome Biology, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13059-020-02206-w
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- Publication type:
- Article
Structural variation in the human genome.
- Published in:
- Nature Reviews Genetics, 2006, v. 7, n. 2, p. 85, doi. 10.1038/nrg1767
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- Publication type:
- Article
Towards compendia of negative genetic association studies: an example for Alzheimer disease.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 29, doi. 10.1007/s00439-005-0078-9
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- Publication type:
- Article
Variants of CYP46A1 may interact with age and APOE to influence CSF Aβ42 levels in Alzheimer’s disease.
- Published in:
- Human Genetics, 2004, v. 114, n. 6, p. 581, doi. 10.1007/s00439-004-1107-9
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- Publication type:
- Article
The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 552, doi. 10.1007/s004390100508
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- Publication type:
- Article
Apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 391, doi. 10.1007/s004390000383
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- Publication type:
- Article
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269
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- Publication type:
- Article
Linkage disequilibrium patterns vary substantially among populations.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 677, doi. 10.1038/sj.ejhg.5201368
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- Publication type:
- Article
Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease.
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- European Journal of Human Genetics, 2001, v. 9, n. 6, p. 437, doi. 10.1038/sj.ejhg.5200651
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- Publication type:
- Article
Origins and functional impact of copy number variation in the human genome.
- Published in:
- Nature, 2010, v. 464, n. 7289, p. 704, doi. 10.1038/nature08516
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- Publication type:
- Article
Global variation in copy number in the human genome.
- Published in:
- Nature, 2006, v. 444, n. 7118, p. 444, doi. 10.1038/nature05329
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- Publication type:
- Article
A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 8, p. 1, doi. 10.26508/lsa.202302481
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- Publication type:
- Article
Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-57467-z
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- Publication type:
- Article
Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00891
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- Publication type:
- Article
Copy number determination of the gene for the human pancreatic polypeptide receptor NPY4R using read depth analysis and droplet digital PCR.
- Published in:
- BMC Biotechnology, 2019, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12896-019-0523-9
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- Publication type:
- Article
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 436, doi. 10.1111/cge.13470
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- Publication type:
- Article
Characterization of the nuclear and cytosolic transcriptomes in human brain tissue reveals new insights into the subcellular distribution of RNA transcripts.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-83541-1
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- Publication type:
- Article
RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1373, doi. 10.1093/hmg/dds553
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- Publication type:
- Article
Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development.
- Published in:
- Biology of Sex Differences, 2016, v. 7, p. 1, doi. 10.1186/s13293-015-0056-4
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- Publication type:
- Article
Genomic, transcriptomic and epigenomic sequencing data of the B-cell leukemia cell line REH.
- Published in:
- BMC Research Notes, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13104-023-06537-2
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- Publication type:
- Article
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00737-6
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- Publication type:
- Article
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0606-4
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- Publication type:
- Article
The Diploid Genome Sequence of an Individual Human.
- Published in:
- PLoS Biology, 2007, v. 5, n. 10, p. e254, doi. 10.1371/journal.pbio.0050254
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- Publication type:
- Article
Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues.
- Published in:
- BMC Biotechnology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1472-6750-13-99
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- Publication type:
- Article
Discovery of Human Inversion Polymorphisms by Comparative Analysis of Human and Chimpanzee DNA Sequence Assemblies.
- Published in:
- PLoS Genetics, 2005, v. 1, n. 4, p. 489, doi. 10.1371/journal.pgen.0010056
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- Publication type:
- Article
Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1262, doi. 10.1002/humu.23580
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- Publication type:
- Article
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1394, doi. 10.1002/humu.23268
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- Publication type:
- Article
A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 964, doi. 10.1002/humu.23034
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- Publication type:
- Article
Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 572, doi. 10.1002/humu.22282
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- Publication type:
- Article