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Design considerations for workflow management systems use in production genomics research and the clinic.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99288-8
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- Publication type:
- Article
Late onset asymptomatic pancreatic neuroendocrine tumor -- A case report on the phenotypic expansion for MEN1.
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- Hereditary Cancer in Clinical Practice, 2017, v. 15, p. 1, doi. 10.1186/s13053-017-0070-0
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- Publication type:
- Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
- Published in:
- 2017
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- Publication type:
- journal article
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
- Published in:
- 2019
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- Publication type:
- journal article
Expansion of PURA -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.
- Published in:
- Child Neurology Open, 2020, p. 1, doi. 10.1177/2329048X20955003
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- Publication type:
- Article
Expansion of PURA -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report.
- Published in:
- Child Neurology Open, 2020, v. 7, p. 1, doi. 10.1177/2329048X20955003
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- 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
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- Publication type:
- Case Study
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
- Published in:
- 2022
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- 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.
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Implementing individualized medicine into the medical practice.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 15, doi. 10.1002/ajmg.c.31387
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- Publication type:
- Article
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63542
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- Publication type:
- Article
De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 919, doi. 10.1002/ajmg.a.62576
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- Publication type:
- Article
Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1883, doi. 10.1002/ajmg.a.62178
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- Publication type:
- Article
Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2442, doi. 10.1002/ajmg.a.61792
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- Publication type:
- Article
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1764, doi. 10.1002/ajmg.a.61274
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- Publication type:
- Article
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 570, doi. 10.1002/ajmg.a.61061
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- Publication type:
- Article
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2710, doi. 10.1002/ajmg.a.40644
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- Publication type:
- Article
A case of YY1‐associated syndromic learning disability or Gabriele‐de Vries syndrome with myasthenia gravis.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2846, doi. 10.1002/ajmg.a.40626
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- Publication type:
- Article
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
- Published in:
- 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
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
Immunological and mass spectrometric assays of SHBG: consistent and inconsistent metabolic associations in healthy men.
- Published in:
- 2014
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- Publication type:
- journal 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
Target selection for Danio rerio functional genomics.
- Published in:
- Genesis: The Journal of Genetics & Development, 2001, v. 30, n. 3, p. 123, doi. 10.1002/gene.1045
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- Publication type:
- 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
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- Publication type:
- Article
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
- Published in:
- 2017
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- Publication type:
- journal article
Antiangiogenic Effects and Therapeutic Targets of Azadirachta indica Leaf Extract in Endothelial Cells.
- Published in:
- Evidence-based Complementary & Alternative Medicine (eCAM), 2012, v. 2012, p. 1, doi. 10.1155/2012/303019
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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
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- Publication type:
- Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
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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
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- Publication type:
- Letter to the Editor
Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.78653
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- Publication type:
- Article
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
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
Endoscopic ultrasound fine-needle aspiration cytology mutation profiling using targeted next-generation sequencing: personalized care for rectal cancer.
- Published in:
- 2015
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- Publication type:
- Journal Article
Endoscopic Ultrasound Fine-Needle Aspiration Cytology Mutation Profiling Using Targeted Next-Generation Sequencing.
- Published in:
- American Journal of Clinical Pathology, 2015, v. 143, n. 6, p. 879, doi. 10.1309/AJCPU3J7FGAYQBRL
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- Publication type:
- Article
Mass Spectrometry Measurements of Prostate-Specific Antigen (PSA) Peptides Derived From Immune-Extracted PSA Provide a Potential Strategy for Harmonizing Immunoassay Differences.
- Published in:
- American Journal of Clinical Pathology, 2014, v. 141, n. 4, p. 527, doi. 10.1309/AJCP8PEL0YXAHDVK
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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
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
- By:
- Publication type:
- Article
3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer.
- Published in:
- BMC Genomics, 2009, v. 10, p. 531, doi. 10.1186/1471-2164-10-531
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- Publication type:
- Article
Evaluating eukaryotic secreted protein prediction.
- Published in:
- BMC Bioinformatics, 2005, v. 6, p. 256, doi. 10.1186/1471-2105-6-256
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- Publication type:
- Article
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 22, doi. 10.1002/jmd2.12114
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- Publication type:
- Article
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
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
AMOD: a morpholino oligonucleotide selection tool.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. suppl 2, p. w506, doi. 10.1093/nar/gki453
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- Publication type:
- Article
Identifying secretomes in people, pufferfish and pigs.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. 4, p. 1414, doi. 10.1093/nar/gkh286
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- Publication type:
- Article