Associated Papers
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Gombosh M et al.
Clinical Genetics, 2023
Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.
Zhang X et al.
Pediatric Rheumatology Online Journal, 2023
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.
McCarthy SE et al.
Molecular Psychiatry, 2014
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