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Alice Goldenberg
Affiliation : Inserm · Centre Hospitalier Universitaire de Rouen · Université de Rouen Normandie
- 6Publications (affiliation in France)
- 213Total publications
- 8444Citations
- 50h-index
Research profile
Alice Goldenberg has 6 indexed publications (2010–2025). Their work appears mainly in “Nature Genetics”, “Brain” and “Journal of Medical Genetics”. Their most cited article, “Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous dis” (2010), has been cited 134 times. Their work is co-authored with at least 12 researchers, including institutions in Singapore, United States, United Kingdom, Morocco.
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Create my free profile Add my publicationsResearch areas
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- Connective tissue disorders research
Publications (6)
- Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
- The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
- 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
- Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes
- Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature
- Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Publication venues
- Nature Genetics × 1
- Brain × 1
- Journal of Medical Genetics × 1
- Clinical Genetics × 1
- American Journal of Medical Genetics Part C Seminars in Medical Genetics × 1
- Human Genetics × 1
Publications per year
- 20251
- 20221
- 20181
- 20141
- 20131
- 20101
Collaborations
Partner institutions : Assistance Publique – Hôpitaux de Paris · Centre Hospitalier Universitaire d'Angers · Centre National de la Recherche Scientifique · CHU Dijon Bourgogne · Université de Bourgogne
Co-authors’ countries : Singapore · United States · United Kingdom · Morocco
Co-authors
- Christine Francannet
- Dominique Bonneau
- Laurence Olivier Faivre
- Sylvie Odent
- Annick Toutain
- Martine Doco‐Fenzy
- Alexandra Afenjar
- Marie‐Noëlle Bonnet‐Dupeyron
- Odile Boute
- Geneviève Baujat
- Andrée Delahaye‐Duriez
- Hélène Dollfus
Bibliographic data from OpenAlex (open database).
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