List of works - Julien Buratti

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

scientific article published on 23 September 2015

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

scientific article published on 07 August 2018

Both rare and common genetic variants contribute to autism in the Faroe Islands

scientific article published on 21 January 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

scientific article

Congenital immobility and stiffness related to biallelic ATAD1 variants

scientific article published on 24 September 2020

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

scientific article published on 19 May 2020

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

scientific article published on 07 January 2021

Genome Sequence of Lactobacillus delbrueckii subsp. lactis CNRZ327, a Dairy Bacterium with Anti-Inflammatory Properties

scientific article

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Lactobacillus delbrueckii ssp. lactis and ssp. bulgaricus: a chronicle of evolution in action.

scientific article

Mutations and genomic islands can explain the strain dependency of sugar utilization in 21 strains of Propionibacterium freudenreichii

scientific article published on 15 April 2015

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

scientific article published on 28 September 2020

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

scientific article published on 01 May 2019

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

scientific article published in 2023

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

scientific article published on 11 February 2019

List of works by Julien Buratti

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Both rare and common genetic variants contribute to autism in the Faroe Islands

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

Congenital immobility and stiffness related to biallelic ATAD1 variants

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

Genome Sequence of Lactobacillus delbrueckii subsp. lactis CNRZ327, a Dairy Bacterium with Anti-Inflammatory Properties

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Lactobacillus delbrueckii ssp. lactis and ssp. bulgaricus: a chronicle of evolution in action.

Mutations and genomic islands can explain the strain dependency of sugar utilization in 21 strains of Propionibacterium freudenreichii

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature