Lucas Bronicki
Overview
Explore the profile of Lucas Bronicki including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
209
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0
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Recent Articles
1.
Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru M, et al.
J Am Coll Cardiol
. 2025 Feb;
85(7):727-740.
PMID: 39971408
Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first...
2.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, et al.
Ann Clin Transl Neurol
. 2024 Aug;
11(9):2268-2276.
PMID: 39215466
Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age...
3.
Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru M, et al.
medRxiv
. 2024 Aug;
PMID: 39132495
Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first...
4.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, et al.
bioRxiv
. 2024 May;
PMID: 38765987
Introduction: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age...
5.
Josephs K, Roberts A, Theotokis P, Walsh R, Ostrowski P, Edwards M, et al.
Genome Med
. 2023 Oct;
15(1):86.
PMID: 37872640
Background: As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants...
6.
Josephs K, Roberts A, Theotokis P, Walsh R, Ostrowski P, Edwards M, et al.
medRxiv
. 2023 Apr;
PMID: 37066275
Background: As availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in...
7.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Courraud J, Chater-Diehl E, Durand B, Vincent M, Muniz Moreno M, Boujelbene I, et al.
Genet Med
. 2021 Aug;
23(11):2150-2159.
PMID: 34345024
Purpose: DYRK1A syndrome is among the most frequent monogenic forms of intellectual disability (ID). We refined the molecular and clinical description of this disorder and developed tools to improve interpretation...
8.
Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, et al.
Circulation
. 2021 May;
144(1):7-19.
PMID: 33947203
Background: Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy, has a signature genetic theme. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy...
9.
Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin L, Bronicki L, et al.
J Mol Diagn
. 2021 Feb;
23(5):589-598.
PMID: 33631351
Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which data are essential for variant interpretation. The ClinGen Cardiomyopathy Variant Curation Expert Panel defined...
10.
Pranckeviciene E, Racacho L, Ghani M, Nfonsam L, Potter R, Sinclair-Bourque E, et al.
Hum Genet
. 2020 Jul;
140(2):289-297.
PMID: 32627054
Whole exome sequencing (WES)-based assays undergo rigorous validation before being implemented in diagnostic laboratories. This validation process generates experimental evidence that allows laboratories to predict the performance of the intended...