Publications by authors named "A Cospain"

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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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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie

Am J Hum Genet· November 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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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Auriane Cospain

Nat Genet· June 2025

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Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.
Auriane Cospain, Ludivine Dion, Maud Bidet, Krystel Nyangoh Timoh, Chloé Quelin

Acta Obstet Gynecol Scand· March 2025

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