Anne Guimier
Hôpital Necker-Enfants Malades(FR)Université Paris Cité(FR)Assistance Publique – Hôpitaux de Paris(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, Congenital heart defects research
Most-Cited Works
- → ARMC5Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome(2013)392 cited
- → MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates(2015)90 cited
- → Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy(2016)55 cited
- → Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability(2019)52 cited
- → Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy(2020)33 cited
- → Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption(2025)28 cited