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Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
- Published in:
- Neuropathology, 2020, v. 40, n. 3, p. 302, doi. 10.1111/neup.12641
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- Publication type:
- Article
High-throughput profiling of influenza A virus hemagglutinin gene at single-nucleotide resolution.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep04942
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- Publication type:
- Article
Characterization of transformation related genes in oral cancer cells.
- Published in:
- Oncogene, 1998, v. 16, n. 15, p. 1921, doi. 10.1038/sj.onc.1201715
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- Publication type:
- Article
Online Self-Report Data for Duchenne Muscular Dystrophy Confirms Natural History and Can Be Used to Assess for Therapeutic Benefits.
- Published in:
- PLoS Currents, 2014, p. 335, doi. 10.1371/currents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a
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- Publication type:
- Article
Osteogenic Oxysterol, 20(S)-Hydroxycholesterol, Induces Notch Target Gene Expression in Bone Marrow Stromal Cells.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 4, p. 782, doi. 10.1359/jbmr.091024
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- Publication type:
- Article
Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation.
- Published in:
- Journal of Cell Biology, 2005, v. 170, n. 3, p. 413, doi. 10.1083/jcb.200412115
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- Publication type:
- Article
Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1216066
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- Publication type:
- Article
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3481, doi. 10.1093/hmg/ddu056
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- Publication type:
- Article
High density SNP association study of a major autism linkage region on chromosome 17.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 6, p. 704, doi. 10.1093/hmg/ddm015
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- Publication type:
- Article
A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 251, doi. 10.1093/hmg/ddi441
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- Publication type:
- Article
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 1, doi. 10.1038/ncomms8092
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- Publication type:
- Article
Interpreting Whole-Genome Sequencing.
- Published in:
- 2014
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- Publication type:
- Letter to the Editor
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 963, doi. 10.1038/ejhg.2014.220
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- Publication type:
- Article
COVID‐19 drug repurposing: Summary statistics on current clinical trials and promising untested candidates.
- Published in:
- Transboundary & Emerging Diseases, 2021, v. 68, n. 2, p. 313, doi. 10.1111/tbed.13710
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- Publication type:
- Article
Phenotypic and Genetic Analysis of a Large Family With Migraine-Associated Vertigo.
- Published in:
- Headache: The Journal of Head & Face Pain, 2008, v. 48, n. 10, p. 1460, doi. 10.1111/j.1526-4610.2007.01002.x
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- Publication type:
- Article
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
- Published in:
- 2016
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- Publication type:
- journal article
Truncating mutations in APP cause a distinct neurological phenotype.
- Published in:
- 2016
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- Publication type:
- journal article
Improving the efficiency of genomic loci capture usingoligonucleotide arrays for high throughput resequencing.
- Published in:
- BMC Genomics, 2009, v. 10, p. 646, doi. 10.1186/1471-2164-10-646
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- Publication type:
- Article
Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression.
- Published in:
- BMC Genomics, 2007, v. 8, p. 165, doi. 10.1186/1471-2164-8-165
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- Publication type:
- Article
SeqWare Query Engine: storing and searching sequence data in the cloud.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 1, doi. 10.1186/1471-2105-11-S12-S2
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- Publication type:
- Article
Local alignment of generalized k-base encodedDNA sequence.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 347, doi. 10.1186/1471-2105-11-347
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- Publication type:
- Article
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation.
- Published in:
- Nature, 2010, v. 468, n. 7326, p. 973, doi. 10.1038/nature09626
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- Publication type:
- Article
Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning.
- Published in:
- Nature, 2008, v. 452, n. 7184, p. 215, doi. 10.1038/nature06745
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- Publication type:
- Article
DNA-microarray analysis of brain cancer: molecular classification for therapy.
- Published in:
- Nature Reviews Neuroscience, 2004, v. 5, n. 10, p. 782, doi. 10.1038/nrn1518
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- Publication type:
- Article
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2320, doi. 10.1002/acn3.51209
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- Publication type:
- Article
Gene expression profiling identifies molecular subtypes of gliomas.
- Published in:
- Oncogene, 2003, v. 22, n. 31, p. 4918, doi. 10.1038/sj.onc.1206753
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- Publication type:
- Article
Identification of molecular subtypes of glioblastoma by gene expression profiling.
- Published in:
- Oncogene, 2003, v. 22, n. 15, p. 2361, doi. 10.1038/sj.onc.1206344
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- Publication type:
- Article
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 5, p. 1, doi. 10.15252/emmm.202217078
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- Publication type:
- Article
FDA Approval of Eteplirsen for Muscular Dystrophy.
- Published in:
- 2017
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- Publication type:
- letter
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 788, doi. 10.1038/ng.2275
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- Publication type:
- Article
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 709, doi. 10.1038/ng.2259
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- Publication type:
- Article
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 575, doi. 10.1038/ng.2252
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- Publication type:
- Article
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
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- Nature Genetics, 2011, v. 43, n. 4, p. 365, doi. 10.1038/ng.780
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- Publication type:
- Article
Mutations in PYCR1 cause cutis laxa with progeroid features.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1016, doi. 10.1038/ng.413
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- Publication type:
- Article
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
- Published in:
- Nature Genetics, 2008, v. 40, n. 8, p. 999, doi. 10.1038/ng.166
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- Publication type:
- Article
High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5469, doi. 10.3390/ijms25105469
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- Publication type:
- Article
U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 1, p. 1, doi. 10.1371/journal.pgen.1000832
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- Publication type:
- Article
Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 8, p. 1, doi. 10.1371/journal.pgen.1000167
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- Publication type:
- Article
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.
- Published in:
- Glycobiology, 2018, v. 28, n. 5, p. 276, doi. 10.1093/glycob/cwy014
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- Publication type:
- Article
Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03938-0
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- Publication type:
- Article
Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins.
- Published in:
- Briefings in Bioinformatics, 2015, v. 16, n. 2, p. 255, doi. 10.1093/bib/bbu008
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- Publication type:
- Article
The functional O-mannose glycan on α- dystroglycan contains a phospho-ribitol primed for matriglycan addition.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.14473
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- Publication type:
- Article
Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
- Published in:
- Annals of the New York Academy of Sciences, 2016, v. 1366, n. 1, p. 49, doi. 10.1111/nyas.12850
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- Publication type:
- Article
Genomic predictors of remission to antidepressant treatment in geriatric depression using genome-wide expression analyses: a pilot study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Protective Properties of Radio-Chemoresistant Glioblastoma Stem Cell Clones Are Associated with Metabolic Adaptation to Reduced Glucose Dependence.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080397
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- Publication type:
- Article
Functional Consequences of a Novel Variant of PCSK1.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055065
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- Publication type:
- Article
Phenotype Sequencing: Identifying the Genes That Cause a Phenotype Directly from Pooled Sequencing of Independent Mutants.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016517
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- Publication type:
- Article
Disease Gene Characterization through Large-Scale Co-Expression Analysis.
- Published in:
- PLoS ONE, 2009, v. 4, n. 12, p. 1, doi. 10.1371/journal.pone.0008491
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- Publication type:
- Article
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
- Published in:
- Archives of Iranian Medicine (AIM), 2016, v. 19, n. 2, p. 87
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- Publication type:
- Article
SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction.
- Published in:
- Stem Cells, 2023, v. 41, n. 6, p. 560, doi. 10.1093/stmcls/sxad025
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- Publication type:
- Article