[HTML][HTML] … , APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia …
… of Medical Genetics and Genomics (ACMG) published in 2015 an … to classify, following ACMG
guidelines, all described variants … Additionally the misfits of ACMG algorithm to classify FH-…
guidelines, all described variants … Additionally the misfits of ACMG algorithm to classify FH-…
[HTML][HTML] The clinical genome resource (ClinGen) familial hypercholesterolemia variant curation expert panel consensus guidelines for LDLR variant classification
… The type of LDLR-specific alterations we made to the original ACMG/AMP criteria codes
can be categorized into the following: 14 disease-specific/strength-level changes, 13 disease-…
can be categorized into the following: 14 disease-specific/strength-level changes, 13 disease-…
Specification Of Acmg/Amp Guidelines For Variant Interpretation In Familial Hypercholesterolemia
JR Chora, MA Iacocca, A Carrié… - …, 2019 - atherosclerosis-journal.com
… familial hypercholesterolemia variant curation expert panel (FH-VCEP) was created with the
goal to adapt the guidelines … final FH-VCEP proposed guidelines for standardized FH variant …
goal to adapt the guidelines … final FH-VCEP proposed guidelines for standardized FH variant …
Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the clingen FH variant curation expert …
MA Iacocca, JR Chora, T Freiberger… - …, 2020 - atherosclerosis-journal.com
Methods: Following review of ACMG/AMP recommendations, … set of FH-ACMG/AMP guidelines,
which focus first on the … types; 2) functional study criteria specifications; 3) alteration of …
which focus first on the … types; 2) functional study criteria specifications; 3) alteration of …
Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia-A clingen fh expert panel pilot study
JR Chora, MA Iacocca, A Carrie, L Tichy… - …, 2018 - atherosclerosis-journal.com
… Aim: Familial hypercholesterolemia (FH) is an autosomal … The recent ACMG/AMP
guidelines for standardized variant … Despite such efforts, these existing ACMG/AMP guidelines …
guidelines for standardized variant … Despite such efforts, these existing ACMG/AMP guidelines …
ClinVar database of global familial hypercholesterolemia‐associated DNA variants
MA Iacocca, JR Chora, A Carrié, T Freiberger… - Human …, 2018 - Wiley Online Library
… However, the ACMG/AMP guidelines were designed to be generalizable to all Mendelian
disorders, and ambiguities leave potential for differences in the application of various …
disorders, and ambiguities leave potential for differences in the application of various …
Application of ACMG guidelines for classification of variants detected in a cohort of patients with clinically suspected familial hypercholesterolemia (FH): Implication for …
I Minicocci, A Di Costanzo, L D'Erasmo… - …, 2021 - atherosclerosis-journal.com
… , ACMG criteria showed a greater ability to predict untreated LDL-C (Padj < 0.001). Carriers
of ACMG-… Conclusions: Our data support the clinical utility of ACMG criteria in the molecular …
of ACMG-… Conclusions: Our data support the clinical utility of ACMG criteria in the molecular …
Systematic review of LDLR mutations associated to familial hypercholesterolaemia–evidence of functional studies and application of acmg guidelines for FH diagnosis
… Aim: Familial hypercholesterolaemia (FH) is an autosomal … evidence and application of
ACMG variant interpretation guidelines. … ACMG guidelines were applied to classify all published …
ACMG variant interpretation guidelines. … ACMG guidelines were applied to classify all published …
Management of familial hypercholesterolemia: current status and future perspectives
DTW Lui, ACH Lee, KCB Tan - Journal of the Endocrine Society, 2021 - academic.oup.com
Familial hypercholesterolemia (FH) is the most common monogenic disorder associated with
premature atherosclerotic cardiovascular disease. Early diagnosis and effective treatment …
premature atherosclerotic cardiovascular disease. Early diagnosis and effective treatment …
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