Brittany C. Thomas
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View article: Evaluating the association between family cancer history and variants of uncertain significance
Evaluating the association between family cancer history and variants of uncertain significance Open
View article: P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases
P777: Genome sequencing detects transposable element (TE) insertions in two diagnostic challenging cases Open
View article: P707: Systematic reanalysis of clinical genome sequencing data in a cohort of acute care patients
P707: Systematic reanalysis of clinical genome sequencing data in a cohort of acute care patients Open
View article: P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing
P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing Open
View article: Clinical genome sequencing in patients with suspected rare genetic disease in Peru
Clinical genome sequencing in patients with suspected rare genetic disease in Peru Open
View article: Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases Open
Background Though next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome data (EGBP) are effective for rare diseases, the ideal diagnostic approach is debated. Li…
View article: Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) Open
View article: Table of Contents
Table of Contents Open
View article: The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Open
View article: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) Open
View article: Supplementary Table 2 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i>
Supplementary Table 2 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i> Open
Supplementary Table 2 from Origins and Prevalence of the American Founder Mutation of MSH2
View article: Supplementary Figure 1 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i>
Supplementary Figure 1 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i> Open
Supplementary Figure 1 from Origins and Prevalence of the American Founder Mutation of MSH2
View article: Data from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i>
Data from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i> Open
Large germline deletions within the mismatch repair gene MSH2 account for a significant proportion (up to 20%) of all deleterious mutations of this gene which are associated with Lynch syndrome. An exons 1 to 6 deletion of MSH2
View article: Supplementary Table 1 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i>
Supplementary Table 1 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i> Open
Supplementary Table 1 from Origins and Prevalence of the American Founder Mutation of MSH2
View article: Supplementary Figure 1 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i>
Supplementary Figure 1 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i> Open
Supplementary Figure 1 from Origins and Prevalence of the American Founder Mutation of MSH2
View article: Data from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i>
Data from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i> Open
Large germline deletions within the mismatch repair gene MSH2 account for a significant proportion (up to 20%) of all deleterious mutations of this gene which are associated with Lynch syndrome. An exons 1 to 6 deletion of MSH2
View article: Supplementary Table 2 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i>
Supplementary Table 2 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i> Open
Supplementary Table 2 from Origins and Prevalence of the American Founder Mutation of MSH2
View article: Supplementary Table 1 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i>
Supplementary Table 1 from Origins and Prevalence of the American Founder Mutation of <i>MSH2</i> Open
Supplementary Table 1 from Origins and Prevalence of the American Founder Mutation of MSH2
View article: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) Open
Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cau…
View article: Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases Open
View article: P471: Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation
P471: Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation Open
View article: P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population
P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population Open
View article: The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change Open
PURPOSE Variants of uncertain significance (VUS) are a common result of diagnostic genetic testing and can be difficult to manage with potential misinterpretation and downstream costs, including time investment by clinicians. We investigat…
View article: eP155: Genetic investigation of idiopathic short stature in the endocrinology practice: The Mayo Clinic experience
eP155: Genetic investigation of idiopathic short stature in the endocrinology practice: The Mayo Clinic experience Open
View article: Pharmacoresponsiveness of spontaneous recurrent seizures and the comorbid sleep disorder of epileptic Kcna1-null mice
Pharmacoresponsiveness of spontaneous recurrent seizures and the comorbid sleep disorder of epileptic Kcna1-null mice Open
View article: Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man
Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man Open
Small patella syndrome presents with small or absent patellae and may result in pulmonary arterial hypertension, typically in children. A pathogenic canonical splice site variant, c.1021+1G>A in the T-box transcription factor 4 (TBX4
View article: Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2)
Comment on: Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2) Open
View article: Identifying predictive factors of rapid response/code blue: A retrospective study using logistic regression analysis
Identifying predictive factors of rapid response/code blue: A retrospective study using logistic regression analysis Open
Background: Rapid response calls and cardiac arrests are often preceded by observable signs of clinical deterioration often hours prior to the adverse event. Objectives: The purpose of this retrospective study was to identify risk factors …
View article: Presentation of a Rare Malignancy: Leiomyosarcoma of the Prostate.
Presentation of a Rare Malignancy: Leiomyosarcoma of the Prostate. Open
Prostatic leiomyosarcoma is an aggressive malignancy with a high risk of metastasis and a poor prognosis that poses unique diagnostic and treatment challenges.
View article: Developing and Implementing a Food Insecurity Screening Initiative for Adult Patients Living With Type 2 Diabetes
Developing and Implementing a Food Insecurity Screening Initiative for Adult Patients Living With Type 2 Diabetes Open
Using a standardized, respectful method of assessing food insecurity can better equip health-care providers to support food-insecure patients with diabetes self-management. Further evaluation of this initiative is needed to determine how f…