Complete characterisation of two new large Xq28 duplications involving <i>F8</i> using whole genome sequencing in patients without haemophilia AYohann Jourdy, Caroline Schluth‐Bolard, Pierre‐Antoine Rollat‐Farnier et al.|Haemophilia|2021Cited by 5
Resolving structural variations missed by short-read sequencing uncovers their pathogenicityCaroline Schluth‐Bolard, Damien Sanlaville, Laïla El Khattabi et al.|Journal of Medical Genetics|2025Cited by 1