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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.

Bone morphogenetic protein receptor type 2 (BMPR2) encodes an evolutionarily conserved serine/threonine kinase that phosphorylates type-1 BMP receptors to mediate intercellular communication upon ligand binding. Loss-of-function variants in BMPR2 are known to cause pulmonary arterial hypertension and other cardiovascul...

Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al. · 0 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. · 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. · 2 citations

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