Angad Jolly

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

The paper reports new TUBB2B variants in multiple families, expanding the clinical and molecular spectrum of tubulinopathies and highlighting phenotypic heterogeneity and dual molecular diagnoses.

RAG-HPO improves HPO term assignment using retrieval-augmented generation, achieving higher precision and recall than existing tools in phenotypic analysis of clinical text.

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

This study identifies ANKLE2 as a Zika virus target that regulates neuroblast asymmetric division, linking it to microcephaly and motor neuron disease through interactions with VRK1 and LLGL1.