Concepedia
Statistics
Publications
57
Citations
2.1K
H-Index
26
Active since
2014
Affiliations
Inserm(Current)
Université de Bourgogne
CHU Dijon Bourgogne
Centre National de la Recherche Scientifique
Assistance Publique – Hôpitaux de Paris
Anne‐Sophie Denommé‐Pichon is an author at Inserm specializing in genetics, life sciences, and molecular genetics.
Publications per year
2014–2025
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 124 citations · Full text
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text
Life Sciences, Molecular Biology, Molecular Genetics +16
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 103 citations · Full text
Life Sciences, Bioinformatics, Biomedical Informatics +15
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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