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Author

Michael J. Parker

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Sep 2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

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. · 0 citations
Open access Jan 2026

Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five‐Generation Family

It is proposed that one or more of the variants within the TBX4 lung‐specific super‐enhancer or TAD may act in trans with the pathogenic CGR, modulating TBX4 expression from the intact allele.

Shruti Pande, Hiuling Chan Joiner, P. Szafranski et al. · 0 citations
Open access Aug 2026

CCDC149: a novel gene associated with hypopituitarism and neurodevelopmental impairment.

This study is the first to report CCDC149 variants in association with Congenital Hypopituitarism, supporting the possibility of impaired ciliary function as an underlying mechanism in this complex disorder.

L. Gregory, Shoshana Rath, Hanna Mandel et al. · 0 citations

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