Publications by authors named "P Rollier"

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Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.
Auriane Cospain, Paul Rollier, Anna Lokchine, Erika Launay, Ludivine Dion

J Assist Reprod Genet· December 2025

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PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.
Camille Level, Christel Thauvin-Robinet, Christine Binquet, Yannis Duffourd, Emeline Davoine, Paul Rollier

BMJ Open· October 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Paul Rollier

medRxiv· September 2025

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The recurrent p.Glu3Lys variant in is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities.
P Rollier, A Cospain, M Barth, V Milon, N Gueguen

Mol Genet Metab Rep· June 2025

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A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene.
Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoit Godey, Cédric Le Marechal

Mol Genet Genomic Med· May 2025

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