Purpose Children with suspected rare genetic disorders often remain undiagnosed after exome, gene panel, or chromosomal microarray testing. We sought to define recurrent missed-diagnosis mechanisms and evaluate an integrated clinical-genomic reanalysis framework. Methods We studied 75 participants with rare or striking...
Hong-Qiu Gu, A. Sabo, S. Jangam et al.· medRxiv· 0 citations
The data support a model that heterozygous loss of BRSK1 leads to a neurodevelopmental syndrome with variable phenotypes and indicates that the three individual-derived alleles provide only a partial rescue and fail to normalize NMJ morphology and Futsch levels, suggesting that they are partial loss-of-function alleles...
Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al.· American Journal of Human Ge...· 0 citations
A rare recurrent missense variant in BMPR2 identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay, is reported and shows that this variant causes neurodevelopmental defects in flies when expressed in neurons or glial cells.
Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al.· American Journal of Human Ge...· 2 citations
The findings implicate DCLK1 in a previously unrecognized progressive neurodevelopmental disorder and demonstrate the power of integrative cross-species functional genomics in resolving ultra-rare disease variants.
David F. Butler, Wei-Xi Yuan, Hirokazu Hashimoto et al.· Research Square· 0 citations
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