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Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencingPreprint

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Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasisPreprint

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Autosomal dominant Alport's syndrome: study of a large Tunisian family.

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Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1Preprint

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Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhagePreprint

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