Author

Yu-Feng Shen

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Sep 2026

A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies.

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

Review Open access Jul 2026

Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University.

By linking early genetic probability with brain-behavioral trajectories, PROGRESS advances understanding of autism-related differences before clinical diagnosis and provides an empirically grounded foundation for ethical genomic newborn screening and optimized early developmental monitoring and intervention.

Nicolò Pini, L. Shuffrey, Kally C. O'Reilly Sparks et al. · Pediatric Research · 0 citations

Jul 2026

Understanding language model scaling for protein fitness prediction

It is shown that model size, training dataset and stochastic elements can bias the predicted p(sequence) away from real fitness, which clarifies the scaling behavior of protein models on fitness prediction and provides practical guidelines for their application and future development.

Chao Hou, Di Liu, Aziz Zafar et al. · Nature Computational Science · 2 citations