Kevin Uguen

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Affiliations

Publications (19)

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

MECP2 Dysautonomia Phenotypes in Boys.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

The dual loss and gain of function of the FPN1 iron exporter results in the Ferroportin Disease phenotype.

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

3q29 duplications: A cohort of 46 patients and a literature review.

Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Réseau de co-auteurs