Lamisse Mansour‐Hendili

Germline ATM Testing in Hereditary Cancer Syndromes: Feedback from a Five-Year Center Cohort

I Ban, Lamisse Mansour‐Hendili, Ana Maria NAVARRO, Karen Baudry et autres

fr (code pays fourni par la source)

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Benjamin Cogné, Miriam Essid, Maria Athanasiadou et autres

de, fr, us, au, br, dk, gb, nz (code pays fourni par la source)

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão, François Lecoquierre et autres

fr, de, gb, us, re, nl, au, ca, Maroc (code pays fourni par la source)

Identification of Hepatic-like EPO as a Cause of Polycythemia

Laurent Martin, Darko Maric, Salam Idriss, Marine Delamare et autres

fr, ch, tr, no, de, us (code pays fourni par la source)

PFMG2025–integrating genomic medicine into the national healthcare system in France

Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel et autres

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão, François Lecoquierre et autres

fr, cn, de, gb, us, re, nl, au, ca, Maroc (code pays fourni par la source)

Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases

Ophélie Evrard, Alexis Billes, Catherine Badens, Estelle Cadet et autres

fr, re (code pays fourni par la source)

Late‐onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard et autres

fr (code pays fourni par la source)

Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb

Lamisse Mansour‐Hendili, Cyril Gitiaux, Madeleine Harion, Céline Latouche et autres

fr (code pays fourni par la source)

Connecting the dots: Xanthoma, haemolytic anaemia, stomatocytosis and macrothrombocytopenia point to phytosterolaemia

Jean‐Baptiste Rieu, Thibaut Jamme, L. Astudillo, Lamisse Mansour‐Hendili et autres

fr (code pays fourni par la source)

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis

Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loïc Schmitt et autres

fr, fi, ch, it, nl, de, es, pt, gb, ie (code pays fourni par la source)

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis

Ariane Lunati‐Rozie, Alexandre Janin, Emmanuelle Faubert, Séverine Nony et autres

fr, ca (code pays fourni par la source)