Nosology of genetic skeletal disorders: 2023 revision

Review Genetics & Heredity

A dyadic approach to the delineation of diagnostic entities in clinical genomics

Leslie G. Biesecker et al.

Summary: The article proposes an approach to delineating Mendelian genetic disorders by emphasizing the relationship between genes and phenotypic descriptors, suggesting that only by considering both attributes can a distinct genetic disorder be determined.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Endocrinology & Metabolism

An international classification of inherited metabolic disorders (ICIMD)

Carlos R. Ferreira et al.

Summary: The International Classification of Inherited Metabolic Disorders (ICIMD) is a comprehensive classification system involving input from a large number of experts and endorsement from major metabolic societies globally. It aims to improve understanding of the interconnections between different conditions sharing similar characteristics, and guarantees continued relevance through regular curation and expert advice.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Article Genetics & Heredity