Dong Li

36PUBLICATIONS
449CO-AUTHORS
Anthropological geneticsNeurogeneticsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (36)

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

|Nov 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Ghayda M Mirzaa, Keqin Yan, Raissa Relator

|Jun 09, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome.

Dong Li, Leticia S Matsuoka, Sarah Donoghue

|May 19, 2025
Genome-wide association studies of binge eating behaviour and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.

Jet D Termorshuizen, Helena L Davies, Sang-Hyuck Lee

|Dec 31, 2024
RICTOR variants are associated with neurodevelopmental disorders.

Raphael Carapito, Anne Molitor, Lisa Pavinato

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