Alice Goldenberg

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

46h-index7.0kcitations184works5.22yr avg
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Research Topics

Genomics and Rare Diseases(46), Genomic variations and chromosomal abnormalities(41), Genetics and Neurodevelopmental Disorders(35), Congenital heart defects research(20), RNA modifications and cancer(17)

Publications183 total

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The American Journal of Human Genetics·2025· 1 citedOpen Access
<i>ACTB</i> deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
Journal of Medical Genetics·2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
Genome Medicine·2025· 1 citedOpen Access
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
2025· 3 citedOpen Access
The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS
Prenatal Diagnosis·2025Open Access
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Nature Genetics·2025· 27 citedOpen Access
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
European Journal of Human Genetics·2025· 3 cited
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity
European Journal of Human Genetics·2025· 3 cited
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
European Journal of Human Genetics·2025· 4 citedOpen Access
Brain malformations and seizures by impaired chaperonin function of TRiC
Science·2024· 20 citedOpen Access
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
2024· 3 cited
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
npj Genomic Medicine·2024· 5 citedOpen Access
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders
Prenatal Diagnosis·2024· 4 citedOpen Access
Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants
Genes & Diseases·2024· 1 citedOpen Access
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity.
2024Open Access
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
Journal of Medical Genetics·2024· 4 citedOpen Access
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Journal of Medical Genetics·2024· 2 citedOpen Access
Table of Contents, Volume 194A, Number 4, April 2024
American Journal of Medical Genetics Part A·2024Open Access
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
European Journal of Medical Genetics·2024· 18 citedOpen Access
Lessons from two series by physicians and caregivers' self‐reported data in <i>DDX3X</i>‐related disorders
Molecular Genetics & Genomic Medicine·2024· 5 citedOpen Access
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Frequent Co-authors

Didier Lacombe(15), Pascale Saugier-Véber(13), Laurence Faivre(12), Alain Verloès(11), Valérie Cormier‐Daire(11), Christine Francannet(10), David Geneviève(10), Sylvie Odent(9), Hélène Dollfus(9), Julien Thévenon(9), Geneviève Baujat(9), Valérie Layet(8), Annick Toutain(8), Stanislas Lyonnet(8), Arnold Münnich(8), Jeanne Amiel(8), Sabine Sigaudy(8), Dominique Bonneau(7), Michèle Mathieu‐Dramard(7), Bertrand Isidor(7)