Anna Ardissone

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

Katrina Tatton‐Brown, Chey Loveday, Shawn Yost et al. · The American Journal of Human Genetics · 2017 · 214 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Andrea Legati, Aurelio Reyes, Alessia Nasca et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2016 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit Repp, Elisa Mastantuono, Charlotte L. Alston et al. · Orphanet Journal of Rare Diseases · 2018 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic Mutations in <i>DNM1L</i> are Associated with a Slowly Progressive Infantile Encephalopathy

Alessia Nasca, Andrea Legati, Enrico Baruffini et al. · Human Mutation · 2016 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Laura Melchionda, Tobias B. Haack, Steven Hardy et al. · The American Journal of Human Genetics · 2014 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17