Daniela Macaya
YOU?
Author Swipe
View article: Adaptation of ACMG/AMP Guidelines for Clinical Classification of <i>BMPR2</i> Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar
Adaptation of ACMG/AMP Guidelines for Clinical Classification of <i>BMPR2</i> Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar Open
Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic variants, most frequently in the bone Morphogenetic Protein Receptor Type 2 ( BMPR2 ) gene. We formed a ClinGen variant curation expert panel to devis…
View article: Adaptation of ACMG/AMP guidelines for clinical classification of<i>BMPR2</i>variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar
Adaptation of ACMG/AMP guidelines for clinical classification of<i>BMPR2</i>variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar Open
Purpose: Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic variants, most frequently in the bone morphogenetic protein receptor type 2 ( BMPR2 ) gene. We formed a ClinGen variant curation expert panel…
View article: The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings Open
View article: Defining the clinical validity of genes reported to cause pulmonary arterial hypertension
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension Open
View article: Condición Física y Salud en Escolares con Discapacidad Intelectual en Chile: Es Tiempo de Actuar
Condición Física y Salud en Escolares con Discapacidad Intelectual en Chile: Es Tiempo de Actuar Open
Como profesionales somos partidarios de la equidad e igualdad en el acceso a los servicios preventivos de salud y derechos de las personas con discapacidad intelectual. En este sentido, el ejercicio físico cumple un rol fundamental, para e…
View article: The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings
The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings Open
Understanding the penetrance of pathogenic variants identified as secondary findings (SFs) is of paramount importance with the growing availability of genetic testing. We estimated penetrance through large-scale analyses of patients referr…
View article: Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG) Open
View article: Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation
Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation Open
Introduction: Postmortem genetic testing (PMGT) can provide valuable information about an individual’s cause of death and potentially allow at-risk relatives to discern their risks for inherited cardiac disease. Postmortem genetic testing …
View article: Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM) Open
View article: An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy Open
The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the …
View article: High-Throughput Functional Evaluation of <i>KCNQ1</i> Decrypts Variants of Unknown Significance
High-Throughput Functional Evaluation of <i>KCNQ1</i> Decrypts Variants of Unknown Significance Open
Background: The explosive growth in known human gene variation presents enormous challenges to current approaches for variant classification that have implications for diagnosis and treatment of many genetic diseases. For disorders caused …
View article: Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel Open
View article: High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance
High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance Open
Background The explosive growth in known human gene variation presents enormous challenges to current approaches for variant classification that impact diagnosis and treatment of many genetic diseases. For disorders caused by mutations in …
View article: Early somatic mosaicism is a rare cause of long-QT syndrome
Early somatic mosaicism is a rare cause of long-QT syndrome Open
Significance Most genetic studies and clinical genetic testing do not look for the possibility of mosaic variation. The genetic form of long-QT syndrome (LQTS) can result in life-threatening arrhythmias, but 30% of patients do not have a g…
View article: Partial Duplication and Poly(A) Insertion in <i>KCNQ1</i> Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome
Partial Duplication and Poly(A) Insertion in <i>KCNQ1</i> Not Detected by Next-Generation Sequencing in Jervell and Lange–Nielsen Syndrome Open
View article: Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records Open
Among laboratories experienced in genetic testing for cardiac arrhythmia disorders, there was low concordance in designating SCN5A and KCNH2 variants as pathogenic. In an unselected population, the putatively pathogenic genetic variants we…