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Camille Engel · SciRah

Researcher profile · Semantic Scholar

Camille Engel

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Camille Engel — researcher profile on SciRah

h-index: 5
Works: 10
Citations: 143

Most-cited papers

PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022Nature Communications44 citations Open access
Semantic Scholar
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
C. Racine, A. Denommé-Pichon, Camille Engel, F. Tran Mau-Them +32 more
2023Journal of Medical Genetics13 citations Open access
Semantic Scholar
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel, S. Valence, Geoffroy Delplancq, R. Maroofian +86 more
2023European Journal of Human Genetics12 citations Open access
Semantic Scholar
Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
Jérémie Courraud, Camille Engel, A. Quartier, N. Drouot +16 more
2022bioRxiv8 citations Open access
Semantic Scholar
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, E. Argilli +73 more
2025European Journal of Human Genetics3 citations Open access
Semantic Scholar
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis
Mansoureh Shahsavani, J. Wincent, Ricarda Reiter, A. Soltysova +69 more
2025Research Square1 citations
Semantic Scholar
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis
F. Tran Mau-Them, A. Overs, A. Bruel, Romain Duquet +37 more
2023Frontiers in Genetics1 citations Open access
Semantic Scholar
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Camille Engel, Michaela Rendek, Jessica Assoumani, E. Argilli +73 more
2026European Journal of Human Genetics0 citations
Semantic Scholar
Systematic analysis and prediction of genes associated with disorders on chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022medRxiv0 citations Open access
Semantic Scholar

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