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Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.78653
- By:
- Publication type:
- Article
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00736
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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
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.
- Published in:
- 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
A Critical Review of Repurposing Apomorphine for Smoking Cessation.
- Published in:
- Assay & Drug Development Technologies, 2015, v. 13, n. 10, p. 612, doi. 10.1089/adt.2015.680
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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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- Publication type:
- Article
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03213-x
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- Publication type:
- Article
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1377, doi. 10.1002/humu.24425
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- Publication type:
- Article
Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 973, doi. 10.1002/humu.23986
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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
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 931, doi. 10.3390/brainsci11070931
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- Publication type:
- Article
Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations.
- Published in:
- 2022
- By:
- Publication type:
- Editorial
SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.739054
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- Publication type:
- Article
Immunological and mass spectrometric assays of SHBG: consistent and inconsistent metabolic associations in healthy men.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics.
- Published in:
- Cardiovascular Drugs & Therapy, 2021, v. 35, n. 3, p. 549, doi. 10.1007/s10557-020-06988-w
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- Publication type:
- Article
Molecular modeling of LDLR aids interpretation of genomic variants.
- Published in:
- Journal of Molecular Medicine, 2019, v. 97, n. 4, p. 533, doi. 10.1007/s00109-019-01755-3
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- Publication type:
- 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 validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1799
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- Publication type:
- Article
Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1477
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- Publication type:
- 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
- By:
- Publication type:
- Article
RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.560
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- Publication type:
- Article
Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1229, doi. 10.1002/mgg3.454
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- Publication type:
- Article
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 141, doi. 10.1002/mgg3.268
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- Publication type:
- Article
Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA -Associated Cardiocutaneous Progeria Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 112, doi. 10.3390/genes15010112
- By:
- Publication type:
- Article
Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01159-y
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- Publication type:
- Article
HELLO: improved neural network architectures and methodologies for small variant calling.
- Published in:
- BMC Bioinformatics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12859-021-04311-4
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- Publication type:
- Article
Integrated Genomic Characterization Reveals Novel, Therapeutically Relevant Drug Targets in FGFR and EGFR Pathways in Sporadic Intrahepatic Cholangiocarcinoma.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 2, p. 1, doi. 10.1371/journal.pgen.1004135
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- Publication type:
- Article
TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data.
- Published in:
- Bioinformatics, 2012, v. 28, n. 2, p. 277, doi. 10.1093/bioinformatics/btr612
- By:
- 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
- By:
- Publication type:
- Article
Modeling post‐translational modifications and cancer‐associated mutations that impact the heterochromatin protein 1α‐importin α heterodimers.
- Published in:
- Proteins, 2019, v. 87, n. 11, p. 904, doi. 10.1002/prot.25752
- By:
- Publication type:
- Article
Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients.
- Published in:
- British Journal of Haematology, 2020, v. 190, n. 5, p. e316, doi. 10.1111/bjh.16897
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- Publication type:
- Article
Impact of RNA degradation on fusion detection by RNA-seq.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3161-9
- By:
- Publication type:
- Article
Evaluating eukaryotic secreted protein prediction.
- Published in:
- BMC Bioinformatics, 2005, v. 6, p. 256, doi. 10.1186/1471-2105-6-256
- By:
- Publication type:
- Article
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005165
- By:
- Publication type:
- Article
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation.
- Published in:
- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/9184265
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/9280812
- By:
- Publication type:
- Article
COVID-19 mortality prediction from deep learning in a large multistate EHR and LIS dataset: algorithm development and validation.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Larval Zebrafish Model for FDA-Approved Drug Repositioning for Tobacco Dependence Treatment.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090467
- By:
- Publication type:
- Article
Lung cancer adrenal gland metastasis: Optimal fine-needle aspirate and touch preparation smear cellularity characteristics for successful theranostic next-generation sequencing.
- Published in:
- Cancer Cytopathology, 2014, v. 122, n. 11, p. 822, doi. 10.1002/cncy.21464
- By:
- Publication type:
- Article
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
- Published in:
- 2017
- By:
- Publication type:
- journal article