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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
Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10021-x
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- 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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- Article
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review.
- Published in:
- 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
Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.932337
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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
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006180
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- Article
Expanding the clinical phenotype of FGFR1 internal tandem duplication.
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- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006174
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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.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006165
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- Article
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. 189, doi. 10.1002/humu.24304
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- Publication type:
- Article
Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01296-2
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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.
- Published in:
- 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
Novel morphologic findings in PLAG1‐rearranged soft tissue tumors.
- Published in:
- Genes, Chromosomes & Cancer, 2021, v. 60, n. 8, p. 577, doi. 10.1002/gcc.22953
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- Publication type:
- Article
A novel sialic acid-binding adhesin present in multiple species contributes to the pathogenesis of Infective endocarditis.
- Published in:
- PLoS Pathogens, 2021, v. 17, n. 1, p. 1, doi. 10.1371/journal.ppat.1009222
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- Publication type:
- Article
Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 5, p. 1, doi. 10.1101/mcs.a005645
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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
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005231
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- Publication type:
- Article
Long non-coding RNA RAMS11 promotes metastatic colorectal cancer progression.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15547-8
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- Article
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
- Published in:
- 2020
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- Publication type:
- journal 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
Improving eukaryotic genome annotation using single molecule mRNA sequencing.
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- BMC Genomics, 2018, v. 19, p. 1, doi. 10.1186/s12864-018-4555-7
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- Publication type:
- Article
Correction: Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases.
- Published in:
- 2017
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- Publication type:
- corrected article
Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases.
- Published in:
- 2016
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- Publication type:
- journal article
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Visualizing tumor evolution with the fishplot package for R.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3195-z
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- Publication type:
- Article
Genome sequence of the basal haplorrhine primate Tarsius syrichta reveals unusual insertions.
- Published in:
- Nature Communications, 2016, v. 7, n. 10, p. 12997, doi. 10.1038/ncomms12997
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- Publication type:
- Article
Aromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers.
- Published in:
- Nature Communications, 2016, v. 7, n. 8, p. 12498, doi. 10.1038/ncomms12498
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- Article
Cost-Effective Recruitment Strategies That Attract Underrepresented Minority Undergraduates Who Persist to STEM Doctorates.
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- SAGE Open, 2016, v. 6, n. 3, p. 1, doi. 10.1177/2158244016657143
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- Article
A High-Resolution SNP Array-Based Linkage Map Anchors a New Domestic Cat Draft Genome Assembly and Provides Detailed Patterns of Recombination.
- Published in:
- G3: Genes | Genomes | Genetics, 2016, v. 6, n. 6, p. 1607, doi. 10.1534/g3.116.028746
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- Article
The Contribution of GWAS Loci in Familial Dyslipidemias.
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- PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006078
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- Publication type:
- Article
Opsin Repertoire and Expression Patterns in Horseshoe Crabs: Evidence from the Genome of Limulus polyphemus (Arthropoda: Chelicerata).
- Published in:
- Genome Biology & Evolution, 2016, v. 8, n. 5, p. 1571, doi. 10.1093/gbe/evw100
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- Article
Dictyocaulus viviparus genome, variome and transcriptome elucidate lungworm biology and support future intervention.
- Published in:
- Scientific Reports, 2016, p. 20316, doi. 10.1038/srep20316
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- Publication type:
- Article
DGIdb 2.0: mining clinically relevant drug-gene interactions.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 1, p. D1036, doi. 10.1093/nar/gkv1165
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- Article
Whole Body Melanoma Transcriptome Response in Medaka.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143057
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- Article
Genetic variation and the de novo assembly of human genomes.
- Published in:
- 2015
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- Publication type:
- journal article
Sequencing strategies and characterization of 721 vervet monkey genomes for future genetic analyses of medically relevant traits.
- Published in:
- BMC Biology, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12915-015-0152-2
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- Publication type:
- Article
The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 330, doi. 10.1038/ng.3230
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- Publication type:
- Article
Genomic landscape of paediatric adrenocortical tumours.
- Published in:
- Nature Communications, 2015, v. 6, n. 3, p. 6302, doi. 10.1038/ncomms7302
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- Publication type:
- Article
Genetic Heterogeneity of Induced Pluripotent Stem Cells: Results from 24 Clones Derived from a Single C57BL/6 Mouse.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120585
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- Publication type:
- Article
Genome Sequence of Enterovirus D68 from St. Louis, Missouri, USA.
- Published in:
- Emerging Infectious Diseases, 2015, v. 21, n. 1, p. 184, doi. 10.3201/eid2101.141605
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- Publication type:
- Article
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
- Published in:
- Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120
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- Publication type:
- Article
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
- Published in:
- Nature Medicine, 2014, v. 20, n. 12, p. 1472, doi. 10.1038/nm.3733
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- Article
Clonal Architectures and Driver Mutations in Metastatic Melanomas.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111153
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- Publication type:
- Article
SciClone: Inferring Clonal Architecture and Tracking the Spatial and Temporal Patterns of Tumor Evolution.
- Published in:
- PLoS Computational Biology, 2014, v. 10, n. 8, p. 1, doi. 10.1371/journal.pcbi.1003665
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- Publication type:
- Article
Clonal Architecture of Secondary Acute Myeloid Leukemia Defined by Single-Cell Sequencing.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 7, p. 1, doi. 10.1371/journal.pgen.1004462
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- Publication type:
- Article
Sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-387
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- Publication type:
- Article