Complete characterisation of two new large Xq28 duplications involving <i>F8</i> using whole genome sequencing in patients without haemophilia A
Yohann Jourdy(Université Claude Bernard Lyon 1), Caroline Schluth‐Bolard(Université Claude Bernard Lyon 1), Christine Vinciguerra(Université Claude Bernard Lyon 1), Marie‐Laure Mathieu(Hospices Civils de Lyon), Mathilde Frétigny(Hospices Civils de Lyon), Damien Sanlaville(Hospices Civils de Lyon), Patrick Edery(Hôpital Femme Mère Enfant), Audrey Labalme(Hospices Civils de Lyon), Flavie Diguet(Hospices Civils de Lyon), Claire Bardel(Université Claude Bernard Lyon 1), Pierre‐Antoine Rollat‐Farnier(Hospices Civils de Lyon)
Cited by 5
Related Papers
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
|The American Journal of Human Genetics|2020|334
Optical genome mapping enables constitutional chromosomal aberration detection
|The American Journal of Human Genetics|2021|254
Mutation update for the <i>CSB</i> / <i>ERCC6</i> and <i>CSA</i> / <i>ERCC8</i> genes involved in Cockayne syndrome
|Human Mutation|2009|227
Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation
|The American Journal of Human Genetics|2008|220
Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux
|The American Journal of Human Genetics|2007|215