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Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1298574
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- Article
Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006294
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- Article
Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27700-6
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- Article
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 135, doi. 10.1002/ajmg.a.63004
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- Publication type:
- Article
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. 387, doi. 10.1093/brain/awac244
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- Publication type:
- Article
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review.
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- Genes, Chromosomes & Cancer, 2023, v. 62, n. 1, p. 39, doi. 10.1002/gcc.23081
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- Publication type:
- Article
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
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- Rheumatology, 2023, v. 62, n. 1, p. 347, doi. 10.1093/rheumatology/keac227
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- Article
Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01472-y
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- Publication type:
- Article
Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.932299
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- Article
De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 4, p. 1, doi. 10.1101/mcs.a006172
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- Article
Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 305, doi. 10.1002/humu.24330
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- Publication type:
- Article
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006180
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- Publication type:
- Article
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006165
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- Publication type:
- Article
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
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- Human Mutation, 2022, v. 43, n. 2, p. 189, doi. 10.1002/humu.24304
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- Publication type:
- Article
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
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- Clinical Genetics, 2021, v. 100, n. 6, p. 775, doi. 10.1111/cge.14052
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- Article
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
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- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 6, p. 1, doi. 10.1101/mcs.a006122
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- Article
PTEN somatic mutations contribute to spectrum of cerebral overgrowth.
- Published in:
- 2021
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- Publication type:
- journal article
Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. 1, doi. 10.3389/fonc.2021.721712
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- Publication type:
- Article
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.664278
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- Publication type:
- Article
Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01164-z
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- Publication type:
- Article
Best practices for variant calling in clinical sequencing.
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- Genome Medicine, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13073-020-00791-w
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- Publication type:
- Article
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005306
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- Publication type:
- Article
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
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- 2020
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- Publication type:
- journal article
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 557, doi. 10.1002/ajmg.a.61452
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- Publication type:
- Article
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2286, doi. 10.1002/humu.23891
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- Article
Identification of Rare Variants Predisposing to Thyroid Cancer.
- Published in:
- Thyroid, 2019, v. 29, n. 7, p. 946, doi. 10.1089/thy.2018.0736
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- Publication type:
- Article
Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios.
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- Genetic Epidemiology, 2017, v. 41, n. 3, p. 244, doi. 10.1002/gepi.22023
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- Article
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.
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- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
An ensemble approach to accurately detect somatic mutations using SomaticSeq.
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- Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0758-2
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- Publication type:
- Article
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
- Published in:
- Scientific Reports, 2015, p. 9124, doi. 10.1038/srep09124
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- Article
Integrated analysis of germline and somatic variants in ovarian cancer.
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- Nature Communications, 2014, v. 5, n. 1, p. 3156, doi. 10.1038/ncomms4156
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- Article
Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci.
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- PLoS Genetics, 2014, v. 10, n. 1, p. 1, doi. 10.1371/journal.pgen.1004147
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- Article
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
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- Nature Genetics, 2013, v. 45, n. 11, p. 1375, doi. 10.1038/ng.2758
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- Article
Comprehensive molecular portraits of human breast tumours.
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- Nature, 2012, v. 490, n. 7418, p. 61, doi. 10.1038/nature11412
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- Publication type:
- Article
Whole-genome analysis informs breast cancer response to aromatase inhibition.
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- Nature, 2012, v. 486, n. 7403, p. 353, doi. 10.1038/nature11143
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- Publication type:
- Article
Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting.
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- Nature, 2012, v. 482, n. 7385, p. 400, doi. 10.1038/nature10755
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- Article
SomaticSniper: identification of somatic point mutations in whole genome sequencing data.
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- Bioinformatics, 2012, v. 28, n. 3, p. 311, doi. 10.1093/bioinformatics/btr665
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- Publication type:
- Article
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.
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- Nature, 2012, v. 481, n. 7382, p. 506, doi. 10.1038/nature10738
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- Article
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.
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- Nature Genetics, 2012, v. 44, n. 1, p. 53, doi. 10.1038/ng.1031
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- Publication type:
- Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1074, doi. 10.1038/ejhg.2011.86
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- Publication type:
- Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
- Published in:
- 2011
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- Correction notice
Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 7, p. 1, doi. 10.1371/journal.pgen.1002174
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- Publication type:
- Article
Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML.
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- 2011
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- Case Study
Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression.
- Published in:
- 2011
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- Publication type:
- journal article
Challenges of sequencing human genomes.
- Published in:
- Briefings in Bioinformatics, 2010, v. 11, n. 5, p. 484, doi. 10.1093/bib/bbq016
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- Publication type:
- Article
Analysis of next-generation genomic data in cancer: accomplishments and challenges.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. R2, p. R188, doi. 10.1093/hmg/ddq391
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- Publication type:
- Article
Genome remodelling in a basal-like breast cancer metastasis and xenograft.
- Published in:
- Nature, 2010, v. 464, n. 7291, p. 999, doi. 10.1038/nature08989
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- Publication type:
- Article
CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data.
- Published in:
- Bioinformatics, 2010, v. 26, n. 4, p. 464, doi. 10.1093/bioinformatics/btp708
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- Publication type:
- Article
A toolkit for rapid gene mapping in the nematode Caenorhabditis briggsae.
- Published in:
- BMC Genomics, 2010, v. 11, p. 236, doi. 10.1186/1471-2164-11-236
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- Publication type:
- Article
VarScan: variant detection in massively parallel sequencing of individual and pooled samples.
- Published in:
- Bioinformatics, 2009, v. 25, n. 17, p. 2283, doi. 10.1093/bioinformatics/btp373
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- Publication type:
- Article