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Functional Copy-Number Alterations as Diagnostic and Prognostic Biomarkers in Neuroendocrine Tumors.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7532, doi. 10.3390/ijms25147532
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- Publication type:
- Article
Mapping the Evolutionary Space of SARS-CoV-2 Variants to Anticipate Emergence of Subvariants Resistant to COVID-19 Therapeutics.
- Published in:
- PLoS Computational Biology, 2024, v. 20, n. 6, p. 1, doi. 10.1371/journal.pcbi.1012215
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- Publication type:
- Article
The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4930, doi. 10.3390/ijms25094930
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- Publication type:
- Article
Prioritization of Fluorescence In Situ Hybridization (FISH) Probes for Differentiating Primary Sites of Neuroendocrine Tumors with Machine Learning.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17401, doi. 10.3390/ijms242417401
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- Publication type:
- Article
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review.
- Published in:
- 2023
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- Publication type:
- Case Study
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.
- Published in:
- Human Genetics, 2023, v. 142, n. 4, p. 523, doi. 10.1007/s00439-023-02538-0
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- Publication type:
- Article
A comprehensive list of human microdeletion and microduplication syndromes.
- Published in:
- BMC Genomic Data, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12863-022-01093-3
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- Publication type:
- Article
A comprehensive list of human microdeletion and microduplication syndromes.
- Published in:
- BMC Genomic Data, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12863-022-01093-3
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- Publication type:
- Article
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
- Published in:
- 2022
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- Publication type:
- Case Study
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
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- Publication type:
- Article
Additive and Interactive Genetically Contextual Effects of HbA1c on cg19693031 Methylation in Type 2 Diabetes.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 683, doi. 10.3390/genes13040683
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- Publication type:
- Article
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
- Published in:
- Human Mutation, 2022, v. 43, n. 4, p. 511, doi. 10.1002/humu.24343
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- Publication type:
- Article
Sequential genetic testing of living‐related donors for inherited renal disease to promote informed choice and enhance safety of living donation.
- Published in:
- Transplant International, 2021, v. 34, n. 12, p. 2696, doi. 10.1111/tri.14133
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- Publication type:
- Article
Utility of Flow Cytometry and Fluorescence In Situ Hybridization in Follow-up Monitoring of Plasma Cell Myeloma.
- Published in:
- 2021
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- Publication type:
- journal article
RABL6A Promotes Pancreatic Neuroendocrine Tumor Angiogenesis and Progression In Vivo.
- Published in:
- Biomedicines, 2021, v. 9, n. 6, p. 633, doi. 10.3390/biomedicines9060633
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- Publication type:
- Article
Development and comparison of novel bioluminescent mouse models of pancreatic neuroendocrine neoplasm metastasis.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89866-1
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- Publication type:
- Article
Presacral neuroendocrine tumors associated with the Currarino syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1582, doi. 10.1002/ajmg.a.62145
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- Publication type:
- Article
Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 4, p. 2340, doi. 10.1002/ccr3.4031
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- Publication type:
- Article
Genetic Analysis of Multiple Myeloma Identifies Cytogenetic Alterations Implicated in Disease Complexity and Progression.
- Published in:
- Cancers, 2021, v. 13, n. 3, p. 517, doi. 10.3390/cancers13030517
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- Publication type:
- Article
Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders.
- Published in:
- Genesis: The Journal of Genetics & Development, 2021, v. 59, n. 1/2, p. 1, doi. 10.1002/dvg.23394
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- Publication type:
- Article
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1615, doi. 10.1002/humu.24067
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- Publication type:
- Article
Longitudinal phenotype development in a minipig model of neurofibromatosis type 1.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61251-4
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- Publication type:
- Article
Candidate modifier genes for immune function in 22q11.2 deletion syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1057
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- Publication type:
- Article
Interstitial duplication of 8q22.1‐q23.1‐ A case report and review of the literature.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 12, p. 2393, doi. 10.1002/ccr3.2507
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- Publication type:
- Article
A case of primary cutaneous Ewing sarcoma in a neutropenic patient.
- Published in:
- 2019
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- Publication type:
- Case Study
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
- Published in:
- Genetics Research, 2019, v. 101, p. 1, doi. 10.1017/S0016672319000065
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- Publication type:
- Article
Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.
- Published in:
- Genetics, 2018, v. 208, n. 1, p. 283, doi. 10.1534/genetics.117.300535
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- Publication type:
- Article
Immunohistochemical Markers for Prospective Studies in Neurofibromatosis-1 Porcine Models.
- Published in:
- Journal of Histochemistry & Cytochemistry, 2017, v. 65, n. 10, p. 607, doi. 10.1369/0022155417729357
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- Publication type:
- Article
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.
- Published in:
- Genetics, 2017, v. 207, n. 1, p. 215, doi. 10.1534/genetics.117.1125
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- Publication type:
- Article
Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).
- Published in:
- 2017
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- Publication type:
- Correction Notice
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0169687
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- Publication type:
- Article
Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 1, p. 70, doi. 10.4274/jcrpe.3680
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- Publication type:
- Article
Leukemic Transdifferentiation of Follicular Lymphoma Into an Acute Histiocytic Leukemia in a 52-Year-Old Caucasian Woman.
- Published in:
- Laboratory Medicine, 2016, v. 47, n. 2, p. 155, doi. 10.1093/labmed/lmw011
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- Publication type:
- Article
Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0149041
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- Publication type:
- Article
A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6473, doi. 10.1093/hmg/ddv356
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- Publication type:
- Article
The heritability of hemolysis in stored human red blood cells.
- Published in:
- Transfusion, 2015, v. 55, n. 6, p. 1178, doi. 10.1111/trf.12992
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- Publication type:
- Article
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005022
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- Publication type:
- Article
Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center.
- Published in:
- BMC Medical Informatics & Decision Making, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12911-015-0137-7
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- Publication type:
- Article
Development and translational imaging of a TP53 porcine tumorigenesis model.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 9, p. 4052, doi. 10.1172/JCI75447
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- Publication type:
- Article
The heritability of metabolite concentrations in stored human red blood cells.
- Published in:
- Transfusion, 2014, v. 54, n. 8, p. 2055, doi. 10.1111/trf.12605
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- Publication type:
- Article
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.
- Published in:
- Human Genetics, 2013, v. 132, n. 12, p. 1339, doi. 10.1007/s00439-013-1338-8
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- Publication type:
- Article
PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0080737
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- Publication type:
- Article
Eating disorder predisposition is associated with ESRRA and HDAC4 mutations.
- Published in:
- 2013
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- Publication type:
- journal article
Eating disorder predisposition is associated with ESRRA and HDAC4 mutations.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 11, p. 4706, doi. 10.1172/JCI71400
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- Publication type:
- Article
RABL6A, a Novel RAB-Like Protein, Controls Centrosome Amplification and Chromosome Instability in Primary Fibroblasts.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080228
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- Publication type:
- Article
Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy- Walker Malformation and Occipital Cephaloceles.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1075, doi. 10.1002/humu.22351
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- Publication type:
- Article
Co-Regulation of p16<sup>INK4a</sup> and Migratory Genes in Culture Conditions that Lead to Premature Senescence in Human Keratinocytes.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 125, n. 3, p. 499, doi. 10.1111/j.0022-202X.2005.23844.x
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- Publication type:
- Article