Laurence Duplomb

Inserm — France

Medicine · Health Sciences

35h-index3.7kcitations81works2.72yr avg
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Research Topics

Cytokine Signaling Pathways and Interactions(16), Bone Metabolism and Diseases(13), Bone health and treatments(12), Genetics and Neurodevelopmental Disorders(12), Blood disorders and treatments(11)

Publications81 total

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Journal of Clinical Investigation·2025· 2 citedOpen Access
Des organoïdes cérébraux pour la compréhension et la thérapie des maladies génétiques rares avec troubles neurodéveloppementaux
médecine/sciences·2024· 1 citedOpen Access
A first-in-class inhibitor of HSP110 to potentiate XPO1-targeted therapy in primary mediastinal B-cell lymphoma and classical Hodgkin lymphoma
Journal of Experimental & Clinical Cancer Research·2024· 5 citedOpen Access
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected
Neurobiology of Disease·2023· 6 citedOpen Access
P1217: TARGETING HSP110 IN COMBINATION WITH SELINEXOR IN PRIMARY MEDIASTINAL B-CELL LYMPHOMA AND IN CLASSICAL HODGKIN LYMPHOMA INHIBITS STAT6 ACTIVATION AND IMPAIRS LYMPHOMA CELL GROWTH
HemaSphere·2023Open Access
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
The American Journal of Human Genetics·2022· 9 citedOpen Access
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
Scientific Reports·2021· 11 citedOpen Access
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Genetics in Medicine·2021· 16 citedOpen Access
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
Science Advances·2021· 71 citedOpen Access
Periodontal disorders in a cohort of patients with Cohen syndrome
Special Care in Dentistry·2020· 3 cited
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
Investigative Ophthalmology & Visual Science·2020· 7 citedOpen Access
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation
Biochemical and Biophysical Research Communications·2020· 16 citedOpen Access
<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Journal of Medical Genetics·2020· 16 citedOpen Access
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Journal of Medical Genetics·2020· 14 cited
Report of the first patient with a homozygous <i>OTUD7A</i> variant responsible for epileptic encephalopathy and related proteasome dysfunction
Clinical Genetics·2020· 31 cited
Author response for "Report of the first patient with a homozygous &lt;i&gt;OTUD7A&lt;/i&gt; variant responsible for epileptic encephalopathy and related proteasome dysfunction"
2020
Author response for "Report of the first patient with a homozygous &lt;i&gt;OTUD7A&lt;/i&gt; variant responsible for epileptic encephalopathy and related proteasome dysfunction"
2020
Author response for "Report of the first patient with a homozygous &lt;i&gt;OTUD7A&lt;/i&gt; variant responsible for epileptic encephalopathy and related proteasome dysfunction"
2019
Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking
Cellular and Molecular Life Sciences·2019· 47 citedOpen Access
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
Journal of Molecular Medicine·2019· 25 cited
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Frequent Co-authors

Laurence Faivre(20), Julien Thévenon(15), Dominique Heymann(13), Marc Baud’huin(12), Christel Thauvin‐Robinet(11), Virginie Carmignac(10), Frédéric Blanchard(9), Judith St‐Onge(8), Patrick Callier(8), Christel Thauvin‐Robinet(7), Frédéric Huet(7), Nadège Gigot(7), Nathalie Marle(7), Bernard Aral(7), Jean‐Baptiste Rivière(7), Gaëtan Jégo(7), Céline Charrier(6), Alice Masurel‐Paulet(6), Paul Kuentz(6), Anne Godard(6)