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ARF1-related disorder: phenotypic and molecular spectrum
(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)Article de revueOpen access -
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
(neurogenetics. vol. 22, n° 1, pp. 71-79, 2021-01-23)Article de revueOpen access -
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
(Human Mutation. vol. 43, n° 12, pp. 1882-1897, 2022-12-01)Article de revueOpen access -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
(Nature Genetics. vol. 54, n° 3, pp. 232-239)Article de revueOpen access -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
(Nature Genetics. vol. 54, n° 3, pp. 232-239, 2022-03-01)Article de revueOpen access -
A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity
(Communications Biology. vol. 4, n° 1, 2021-02-16)Article de revueOpen access -
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
(Frontiers in Genetics. vol. 14, pp. 1099995, 2023-01-01)Article de revueOpen access -
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
(Genetics in Medicine. vol. 25, n° 4, pp. 100018, 2023-04-01)Article de revueOpen access -
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells
(Nature Communications. vol. 12, n° 1, 2021-08-13)Article de revueOpen access -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueOpen access