Concepedia
Statistics
Publications
18
Citations
1.1K
H-Index
16
Active since
2009
Affiliations
University of Zurich(Current)
Friedrich-Alexander-Universität Erlangen-Nürnberg
University Children's Hospital Zurich
Swiss Integrative Center for Human Health
University Hospital of Zurich
Silvia Azzarello‐Burri is an author at University of Zurich specializing in genetics, life sciences, and molecular genetics.
Publications per year
2009–2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 194 citations · Full text
Life Sciences, Developmental Biology, Genetics +11
The clinical significance of small copy number variants in neurodevelopmental disorders
Reza Asadollahi, Beatrice Oneda, Pascal Joset et al. · Journal of Medical Genetics · 2014 · 103 citations · Full text
Public Health, Health Behavior, Environmental Health +14
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Anne O’Donnell‐Luria, Lynn Pais, Víctor Faùndes et al. · The American Journal of Human Genetics · 2019 · 99 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Bernt Popp, Svein I. Støve, Sabine Endele et al. · European Journal of Human Genetics · 2014 · 94 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Paranchai Boonsawat, Pascal Joset, Katharina Steindl et al. · Genetics in Medicine · 2019 · 86 citations · Full text
Life Sciences, Genetics, Neuroscience +17
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