New insights into genetic variant spectrum and genotype–phenotype

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

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

Deconstructing the sources of genotype-phenotype associations in humans

Higher-order epistasis and phenotypic prediction

Recent insights into the genotype–phenotype relationship from massively parallel genetic assays - Kemble - 2019 - Evolutionary Applications - Wiley Online Library

Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis - The Lancet Neurology

Challenges and opportunities associated with rare-variant pharmacogenomics: Trends in Pharmacological Sciences

Genetic insights into the neurobiology of anxiety: Trends in Neurosciences

Genetic basis of mitochondrial diseases - Gusic - 2021 - FEBS Letters - Wiley Online Library

More accurate prediction of cancer risk in individuals with Li-Fraumeni syndrome

Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection

Recent insights into the genotype–phenotype relationship from massively parallel genetic assays - Kemble - 2019 - Evolutionary Applications - Wiley Online Library

Insights from multi-omics integration in complex disease primary tissues: Trends in Genetics