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Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
- Published in:
- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/7263780
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- Publication type:
- Article
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0354-7
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- Publication type:
- Article
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.
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- Molecular Neurobiology, 2023, v. 60, n. 11, p. 6362, doi. 10.1007/s12035-023-03461-1
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- Publication type:
- Article
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01064-4
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- Publication type:
- Article
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.
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- Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 986, doi. 10.1007/s10875-022-01217-5
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- Publication type:
- Article
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
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- Journal of Clinical Immunology, 2018, v. 38, n. 3, p. 307, doi. 10.1007/s10875-018-0499-6
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- Article
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases.
- Published in:
- Bioinformatics, 2020, v. 36, n. 17, p. 4609, doi. 10.1093/bioinformatics/btaa259
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- Publication type:
- Article
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 9, p. 885, doi. 10.1002/ccr3.655
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- Publication type:
- Article
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22627-w
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- Publication type:
- Article
Differences in the distribution of cytogenetic subtypes between multiple myeloma patients with and without a family history of monoclonal gammopathy and multiple myeloma.
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- European Journal of Haematology, 2013, v. 91, n. 3, p. 193, doi. 10.1111/ejh.12133
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- Publication type:
- Article
Larval Zebrafish Model for FDA-Approved Drug Repositioning for Tobacco Dependence Treatment.
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- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090467
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- Publication type:
- Article
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 649, doi. 10.1007/s00439-024-02664-3
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- Publication type:
- Article
Zebrafish: a model for the study of addiction genetics.
- Published in:
- Human Genetics, 2012, v. 131, n. 6, p. 977, doi. 10.1007/s00439-011-1128-0
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- Publication type:
- Article
P²T²: Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants.
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- JAMIA Open, 2021, v. 4, n. 3, p. 1, doi. 10.1093/jamiaopen/ooab065
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- Publication type:
- Article
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170822
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- Publication type:
- Article
A Critical Review of Repurposing Apomorphine for Smoking Cessation.
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- Assay & Drug Development Technologies, 2015, v. 13, n. 10, p. 612, doi. 10.1089/adt.2015.680
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- Publication type:
- Article
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
- Published in:
- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0223337
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- Publication type:
- Article
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00276
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- Article
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1328, doi. 10.1002/ajmg.a.38113
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- Publication type:
- Article
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
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- 2017
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- Publication type:
- journal article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1511
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- Publication type:
- Article
Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1341
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- Publication type:
- Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 295, doi. 10.1002/mgg3.280
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- Publication type:
- Article
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 269, doi. 10.1002/mgg3.283
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- Publication type:
- Article
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 141, doi. 10.1002/mgg3.268
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- Publication type:
- Article
Forward Genetic Screening Using Behavioral Tests in Zebrafish: A Proof of Concept Analysis of Mutants.
- Published in:
- Behavior Genetics, 2017, v. 47, n. 1, p. 125, doi. 10.1007/s10519-016-9818-y
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- Publication type:
- Article