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ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00984-x
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- Publication type:
- Article
A Study of the SORL1 Gene in Alzheimer's Disease and Cognitive Function.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 18, n. 1, p. 51, doi. 10.3233/JAD-2009-1137
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- Publication type:
- Article
The Role of the European Society of Human Genetics in Delivering Genomic Education.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.693952
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- Publication type:
- Article
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).
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- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 59, doi. 10.3390/ijms23010059
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- Publication type:
- Article
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007752
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- Publication type:
- Article
SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 12, p. 1, doi. 10.1093/nar/gkv242
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- Publication type:
- Article
Assessing the translational landscape of myogenic differentiation by ribosome profiling.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 9, p. 4408, doi. 10.1093/nar/gkv281
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- Publication type:
- Article
Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 18, p. 9089, doi. 10.1093/nar/gks655
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- Publication type:
- Article
mRNA degradation controls differentiation state-dependent differences in transcript and splice variant abundance.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. 2, p. 556, doi. 10.1093/nar/gkq790
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- Publication type:
- Article
Genome-wide assessment of differential roles for p300 and CBP in transcription regulation.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 16, p. 5396, doi. 10.1093/nar/gkq184
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- Publication type:
- Article
Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 16, p. e165, doi. 10.1093/nar/gkq602
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- Publication type:
- Article
Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 21, p. e141, doi. 10.1093/nar/gkn705
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- Publication type:
- Article
Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray data.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. suppl_2, p. W327, doi. 10.1093/nar/gkn213
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- Publication type:
- Article
Optimized Non-Radioactive Protein Truncation Test for Mutation Analysis of the Adenomatous Polyposis Coli (APC) Gene.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 1998, v. 36, n. 8, p. 567
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- Publication type:
- Article
Hypomorphic MKS1 Mutation in a Pakistani Family with Mild Joubert Syndrome and Atypical Features: Expanding the Phenotypic Spectrum of MKS1-Related Ciliopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3289, doi. 10.1002/ajmg.a.37934
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- Publication type:
- Article
GPSM 2 and Chudley- Mc Cullough Syndrome: A Dutch Founder Variant Brought to North America.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 973, doi. 10.1002/ajmg.a.35808
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- Publication type:
- Article
Reply to Clarity and claims in variation/mutation databasing.
- Published in:
- 2011
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- Publication type:
- Letter
MutaDATABASE: a centralized and standardized DNA variation database.
- Published in:
- Nature Biotechnology, 2011, v. 29, n. 2, p. 117, doi. 10.1038/nbt.1772
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- Publication type:
- Article
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1370, doi. 10.1038/ng.2454
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- Publication type:
- Article
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 379, doi. 10.1038/ng.2217
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- Publication type:
- Article
The value of data.
- Published in:
- 2011
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- Publication type:
- Opinion
Recommendations of the 2006 Human Variome Project meeting.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 433, doi. 10.1038/ng2024
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- Publication type:
- Article
Complex SNP-related sequence variation in segmental genome duplications.
- Published in:
- Nature Genetics, 2004, v. 36, n. 8, p. 861, doi. 10.1038/ng1401
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- Publication type:
- Article
High throughput nano-liter RT-qPCR to classify soil contamination using a soil arthropod.
- Published in:
- BMC Molecular Biology, 2011, v. 12, n. 1, p. 1, doi. 10.1186/1471-2199-12-11
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- Publication type:
- Article
High throughput nano-liter RT-qPCR to classify soil contamination using a soil arthropod.
- Published in:
- BMC Molecular Biology, 2011, v. 12, n. 1, p. 11, doi. 10.1186/1471-2199-12-11
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- Publication type:
- Article
New insights in gene-derived therapy: the example of Duchenne muscular dystrophy.
- Published in:
- Annals of the New York Academy of Sciences, 2010, v. 1214, n. 1, p. 199, doi. 10.1111/j.1749-6632.2010.05836.x
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- Publication type:
- Article
Mutalyzer 2: next generation HGVS nomenclature checker.
- Published in:
- Bioinformatics, 2021, v. 37, n. 18, p. 2811, doi. 10.1093/bioinformatics/btab051
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- Publication type:
- Article
Literature-aided interpretation of gene expression data with the weighted global test.
- Published in:
- Briefings in Bioinformatics, 2011, v. 12, n. 5, p. 518, doi. 10.1093/bib/bbq082
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- Publication type:
- Article
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
- Published in:
- Scientific Reports, 2016, p. 30850, doi. 10.1038/srep30850
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- Publication type:
- Article
Transposon proliferation in an asexual parasitoid.
- Published in:
- Molecular Ecology, 2012, v. 21, n. 16, p. 3898, doi. 10.1111/j.1365-294X.2012.5582.x
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- Publication type:
- Article
The Effects of Low Levels of Dystrophin on Mouse Muscle Function and Pathology.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031937
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- Publication type:
- Article
Targeting Several CAG Expansion Diseases by a Single Antisense Oligonucleotide.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024308
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- Publication type:
- Article
Comprehensive Gene-Expression Survey Identifies Wif1 as a Modulator of Cardiomyocyte Differentiation.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015504
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- Publication type:
- Article
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
- Published in:
- 2019
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- Publication type:
- journal article
Serum protein profiling in mice: Identification of Factor XIIIa as a potential biomarker for muscular dystrophy.
- Published in:
- Proteomics, 2008, v. 8, n. 8, p. 1552, doi. 10.1002/pmic.200700857
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- Publication type:
- Article
Mutation (variation) databases and registries: a rationale for coordination of efforts.
- Published in:
- 2011
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- Publication type:
- Letter
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.
- Published in:
- Human Genetics, 2006, v. 120, n. 1, p. 77, doi. 10.1007/s00439-006-0185-2
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- Publication type:
- Article
Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1349, doi. 10.1038/ejhg.2014.281
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- Publication type:
- Article
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132
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- Publication type:
- Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
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- Publication type:
- Article
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 540, doi. 10.1038/ejhg.2012.201
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- Publication type:
- Article
Experiences with array-based sequence capture; toward clinical applications.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 50, doi. 10.1038/ejhg.2010.145
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- Publication type:
- Article
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134
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- Publication type:
- Article
Therapeutic exon skipping for dysferlinopathies?
- Published in:
- 2010
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- Publication type:
- Correction Notice
Therapeutic exon skipping for dysferlinopathies?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 8, p. 889, doi. 10.1038/ejhg.2010.4
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- Publication type:
- Article
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 180, doi. 10.1038/sj.ejhg.5201540
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- Publication type:
- Article
Deletion and duplication screening in the DMD gene using MLPA.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1231, doi. 10.1038/sj.ejhg.5201465
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- Publication type:
- Article
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 6, p. 721, doi. 10.1038/sj.ejhg.5201414
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- Publication type:
- Article
β-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 567, doi. 10.1038/sj.ejhg.5201192
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- Publication type:
- Article
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 10, p. 793, doi. 10.1038/sj.ejhg.5200535
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- Publication type:
- Article