Laurence Duplomb
Dijon, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 35 publications
The contribution of cerebral organoids to the understanding and treatment of rare genetic diseases with neurodevelopmental disorders
Journal: Medecine sciences : M/S
Published: September 20, 2024
A first-in-class inhibitor of HSP110 to potentiate XPO1-targeted therapy in primary mediastinal B-cell lymphoma and classical Hodgkin lymphoma.
Journal: Journal of experimental & clinical cancer research : CR
Published: December 18, 2023
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Journal: American journal of human genetics
Published: June 11, 2022
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Journal: Scientific reports
Published: May 20, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 03, 2021
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Journal: Investigative ophthalmology & visual science
Published: September 11, 2020
Periodontal disorders in a cohort of patients with Cohen syndrome.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: July 23, 2020
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
Journal: Science advances
Published: May 05, 2020
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.
Journal: Biochemical and biophysical research communications
Published: April 09, 2020
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Journal: Clinical genetics
Published: September 17, 2019
Last Updated: 09/26/2026