Livija Medne

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Eric Marsh, 2018, Genetics in Medicine.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Livija Medne, Amy Meyer, R. Finkel, 2009, Human mutation.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Bo Zhang, 2018, Genetics in Medicine.

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Laura K Conlin, Livija Medne, Hakon Hakonarson, 2010, Human molecular genetics.

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Heinrich Sticht, Avni Santani, Livija Medne, 2016, Orphanet Journal of Rare Diseases.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Xiaowu Gai, Laura K Conlin, Livija Medne, 2009, Genome research.

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Jan-Fang Cheng, Naomichi Matsumoto, Kenji Kurosawa, 2003, Human mutation.

Mutations in SCN3A cause early infantile epileptic encephalopathy

Ethan M. Goldberg, Borut Peterlin, Livija Medne, 2018, Annals of neurology.