De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
Article in BMC Medical Genomics (May 2024)
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Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions
Preprint in medRxiv (April 2024)
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32
Preprint in Research Square (February 2024)