Bruno Delobel

Lille, France

Last Updated: 09/26/2026

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Found 41 publications

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Journal: European journal of medical genetics

Published: October 09, 2024

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Journal: Journal of medical genetics

Published: August 22, 2024

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Journal: American journal of human genetics

Published: November 17, 2023

Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.

Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.

Journal: European journal of medical genetics

Published: August 31, 2022

Growth charts in DYRK1A syndrome.

Growth charts in DYRK1A syndrome.

Journal: American journal of medical genetics. Part A

Published: July 17, 2022

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.

Journal: Clinical genetics

Published: January 09, 2022

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Journal: American journal of medical genetics. Part A

Published: December 15, 2021

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Journal: Clinical genetics

Published: October 06, 2021

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 26, 2021

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 04, 2020

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Journal: Clinical genetics

Published: January 06, 2020

Showing 1-12 of 41

Last Updated: 09/26/2026