Amanda Lindy
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View article: Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel Open
Background: Congenital myopathies are a group of neuromuscular disorders that typically present at birth or early childhood with hypotonia and non-progressive or slowly progressive muscle weakness. They are classically subclassified by cha…
View article: Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders Open
CACNA1A encodes the P/Q-type Ca V 2.1 calcium channels whose function underlies neuronal excitability, presynaptic neurotransmitter release, and Ca 2+ signaling in neurons. Pathogenic variants in CACNA1A have been found in individuals with…
P149: Exome sequencing vs chromosomal microarray for copy number variant detection* Open
Utilization of broad-based genetic testing methodologies such as exome sequencing (ES) has allowed for the identification of cohorts of individuals with rare variants, including copy number variants (CNVs). Professional guidelines and cons…
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP Open
The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of variants: PVS1 (null varian…
View article: Phenotypic continuum of <scp><i>NFU1</i></scp>‐related disorders
Phenotypic continuum of <span><i>NFU1</i></span>‐related disorders Open
Bi‐allelic variants in Iron–Sulfur Cluster Scaffold ( NFU1 ) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected …
View article: High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity Open
Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV7.2 are associated with early onset epilepsy and/or developmental disability, but the functional consequences of most variants are unknown. Absent functio…
View article: High-throughput Evaluation of Epilepsy-associated <i>KCNQ2</i> Variants Reveals Functional and Pharmacological Heterogeneity
High-throughput Evaluation of Epilepsy-associated <i>KCNQ2</i> Variants Reveals Functional and Pharmacological Heterogeneity Open
Hundreds of KCNQ2 variants have been identified by genetic testing of children with early onset epilepsy and/or developmental disability. Voltage-clamp recording from heterologous cells has proved useful for establishing deleterious functi…
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants Open
A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders bec…
Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets Open
Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic tests. Given the paucity of evidence to accurately classify each variant and th…
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders Open
Summary Objective We evaluated >8500 consecutive, unselected patients with epilepsy and neurodevelopmental disorders who underwent multigene panel testing to determine the average age at molecular diagnosis and diagnostic yield of 70 genes…