New insights into genetic variant spectrum and genotype–phenotype

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review, Orphanet Journal of Rare Diseases

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Genes, Free Full-Text

Translating High-Throughput Phenotyping into Genetic Gain: Trends in Plant Science

Schematic representation of genotype-phenotype relationship. The

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

Frontiers The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype–Phenotype Correlations of the Disease

Frontiers Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome

Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions - Genetics in Medicine Open

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes - The Lancet Oncology

Machine learning enables new insights into genetic contributions to liver fat accumulation - ScienceDirect