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Dong Li

35PUBLICATIONS

445CO-AUTHORS

NeurogeneticsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Anthropological geneticsGene expression (incl. microarray and other genome-wide approaches)

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Publications (35)

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|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

|Jun 21, 2024

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Hellen Lesmann, Alexander Hustinx, Shahida Moosa

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Frequent Collaborators

13 joint publications

Elizabeth J Bhoj

9 joint publications

Hakon Hakonarson

5 joint publications

Elaine Zackai

5 joint publications

Sarah E Sheppard

4 joint publications

Theresa Brunet

4 joint publications

Benjamin Cogne

4 joint publications

Alfredo Brusco

3 joint publications

Andrew K Sobering

3 joint publications

Samantha Schrier Vergano

3 joint publications

Sebastien Kury

Frequent Collaborators

13 joint publications

Elizabeth J Bhoj

9 joint publications

Hakon Hakonarson

5 joint publications

Elaine Zackai

5 joint publications

Sarah E Sheppard

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