Julien Buratti

Paris, France

Last Updated: 09/26/2026

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Found 58 publications

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: April 07, 2025

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

Journal: HemaSphere

Published: February 20, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Journal: Human genetics

Published: July 17, 2024

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.

Journal: Human genomics

Published: March 21, 2024

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

Journal: International journal of molecular sciences

Published: May 01, 2023

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

Journal: Human genomics

Published: December 01, 2022

Loss of function of ADNP by an intragenic inversion.

Loss of function of ADNP by an intragenic inversion.

Journal: European journal of human genetics : EJHG

Published: November 14, 2022

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

Journal: European journal of human genetics : EJHG

Published: July 07, 2022

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Last Updated: 09/26/2026