Linnea M. Baudhuin
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View article: The Burden of Cardiac Arrhythmias in Loeys-Dietz Syndrome
The Burden of Cardiac Arrhythmias in Loeys-Dietz Syndrome Open
View article: The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways
The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways Open
Thoracic aortic aneurysm and dissection (TAAD) encompasses a clinically heterogeneous group of diseases characterized by high morbidity and mortality. Genetic studies over the past two decades have significantly expanded our understanding …
View article: Feasibility of DNA-Based Diagnosis of Fibrinogen A Alpha-Chain Amyloidosis From Paraffin-Embedded Kidney Tissue
Feasibility of DNA-Based Diagnosis of Fibrinogen A Alpha-Chain Amyloidosis From Paraffin-Embedded Kidney Tissue Open
View article: Beyond the Echo: Is Comprehensive Vascular Exploration Valuable in Cases of Non-Syndromic Thoracic Aortic Aneurysms or Bicuspid Aortic Valve?
Beyond the Echo: Is Comprehensive Vascular Exploration Valuable in Cases of Non-Syndromic Thoracic Aortic Aneurysms or Bicuspid Aortic Valve? Open
Bicuspid aortic valve (BAV) and thoracic aortic aneurysms and dissections (TAAD) are recognized in syndromic connective tissue diseases (CTD), but most cases occur sporadically. The extent to which non-syndromic BAV or TAAD predisposes to …
View article: Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel Open
View article: P407: A case of homozygous LMNA c.991C>T (p.Arg331Trp) laminopathy with predominant cardiomyopathy
P407: A case of homozygous LMNA c.991C>T (p.Arg331Trp) laminopathy with predominant cardiomyopathy Open
Intermediate filaments lamin A and C are encoded by the LMNA gene. Variants in this gene cause a wide array of phenotypes including progeroid syndromes, muscular disease, lipodystrophy, and cardiac disease including dilated cardiomyopathy …
View article: Lipoprotein (a) cholesterol burden predicts atherosclerotic risk in patients with elevated lipoprotein a
Lipoprotein (a) cholesterol burden predicts atherosclerotic risk in patients with elevated lipoprotein a Open
Funding Acknowledgements Type of funding sources: Private hospital(s). Main funding source(s): Mayo Clinic Department of Laboratory Medicine and Pathology. Background Elevated lipoprotein(a) [Lp(a)] is associated with increased risk for at…
View article: Determination of the Duplicated CYP2D6 Allele Using Real-Time PCR Signal: An Alternative Approach
Determination of the Duplicated CYP2D6 Allele Using Real-Time PCR Signal: An Alternative Approach Open
CYP2D6 duplication has important pharmacogenomic implications. Reflex testing with long-range PCR (LR-PCR) can resolve the genotype when a duplication and alleles with differing activity scores are detected. We evaluated whether visual ins…
View article: Genetic-Guided Oral P2Y12 Inhibitor Selection and Cumulative Ischemic Events After Percutaneous Coronary Intervention
Genetic-Guided Oral P2Y12 Inhibitor Selection and Cumulative Ischemic Events After Percutaneous Coronary Intervention Open
View article: <i>Clinical Chemistry</i>’s Invited Reviewers 2022
<i>Clinical Chemistry</i>’s Invited Reviewers 2022 Open
Journal Article Clinical Chemistry’s Invited Reviewers 2022 Get access Clinical Chemistry, Volume 68, Issue 12, December 2022, Pages 1585–1586, https://doi.org/10.1093/clinchem/hvac181 Published: 06 December 2022 Article history Received: …
View article: eP407: Aberrant KCNQ1 splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance
eP407: Aberrant KCNQ1 splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance Open
View article: Discordantly Elevated Apolipoprotein B versus Low-Density Lipoprotein Cholesterol is Associated with Remnant Lipoproteins and Increased Cardiovascular Events
Discordantly Elevated Apolipoprotein B versus Low-Density Lipoprotein Cholesterol is Associated with Remnant Lipoproteins and Increased Cardiovascular Events Open
Atherosclerotic cardiovascular disease is a result of low-density lipoprotein (LDL) particles becoming trapped in arterial walls and forming plaques which ultimately restrict blood-flow. LDL cholesterol (LDL-C) and apolipoprotein B (apoB) …
View article: NEJM Knowledge+/AACC Learning Lab Contributors 2021
NEJM Knowledge+/AACC Learning Lab Contributors 2021 Open
View article: Genomics Integration Into Nephrology Practice
Genomics Integration Into Nephrology Practice Open
View article: The Dynamic and Multifaceted Nature of Cardiovascular Disease and Using Genetic Testing to Inform Clinical Care: An International Perspective
The Dynamic and Multifaceted Nature of Cardiovascular Disease and Using Genetic Testing to Inform Clinical Care: An International Perspective Open
View article: Effect of Genotype-Guided Oral P2Y12 Inhibitor Selection vs Conventional Clopidogrel Therapy on Ischemic Outcomes After Percutaneous Coronary Intervention
Effect of Genotype-Guided Oral P2Y12 Inhibitor Selection vs Conventional Clopidogrel Therapy on Ischemic Outcomes After Percutaneous Coronary Intervention Open
ClinicalTrials.gov Identifier: NCT01742117.
View article: All Clinical Exomes Are Not Alike: Coverage Matters
All Clinical Exomes Are Not Alike: Coverage Matters Open
View article: Molecular Diagnostics: Going from Strength to Strength
Molecular Diagnostics: Going from Strength to Strength Open
View article: Predictive and Precision Medicine with Genomic Data
Predictive and Precision Medicine with Genomic Data Open
View article: NEJM Knowledge+/AACC Learning Lab Contributors 2019
NEJM Knowledge+/AACC Learning Lab Contributors 2019 Open
View article: Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar Open
View article: Clopidogrel Pharmacogenetics
Clopidogrel Pharmacogenetics Open
Common genetic variation in CYP2C19 (cytochrome P450, family 2, subfamily C, polypeptide 19) *2 and *3 alleles leads to a loss of functional protein, and carriers of these loss-of-function alleles when treated with clopidogrel have signifi…
View article: Privacy in Direct-to-Consumer Genetic Testing
Privacy in Direct-to-Consumer Genetic Testing Open
Over the past decade, direct-to-consumer (DTC)6 genetic testing has grown from an intellectual curiosity to a mainstream technology. In 2018, the total number of US customers for DTC genetic testing has been predicted to exceed 20 million.…
View article: International survey of patients undergoing percutaneous coronary intervention and their attitudes toward pharmacogenetic testing
International survey of patients undergoing percutaneous coronary intervention and their attitudes toward pharmacogenetic testing Open
Although genetically mediated clopidogrel resistance is more prevalent amongst Asians, Koreans undergoing PCI identified pharmacogenetic variants as less important to their healthcare, likely related to their lack of confidence in their ab…
View article: Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death
Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death Open
Background— Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquit…
View article: P1504Discordant low-density lipoprotein particle number versus low-density lipoprotein cholesterol is associated with increased C-reactive protein and poorer outcomes
P1504Discordant low-density lipoprotein particle number versus low-density lipoprotein cholesterol is associated with increased C-reactive protein and poorer outcomes Open
View article: Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals Open
View article: Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine
Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine Open
On January 30, 2015, President Barack Obama announced the launch of a Precision Medicine Initiative—“a bold new research effort to revolutionize how we improve health and treat disease” (1). The success of this bold new initiative depends …
View article: Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing
Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing Open
Genetic medicine has taken tremendous strides in recent years due in large part to the clinical implementation of next-generation sequencing (NGS).10 Laboratories are now able to sequence more genes for less cost, resulting in advances in …
View article: Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants Open