Publications by authors named "Lucie Gueneau"

20Publications

A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2.

Gene 2020 Aug 27;753:144816. Epub 2020 May 27.

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1016/j.gene.2020.144816DOI Listing
August 2020

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.

Am J Med Genet A 2020 03 12;182(3):536-542. Epub 2019 Dec 12.

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1002/ajmg.a.61453DOI Listing
March 2020

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Prenat Diagn 2020 01 5;40(2):276-281. Epub 2019 Dec 5.

Department of Pediatric and Fetal Imaging, Hospital Femme Mère Enfant, Lyon, Bron, France.

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http://dx.doi.org/10.1002/pd.5589DOI Listing
January 2020

De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.

Mol Genet Genomic Med 2019 12 19;7(12):e1006. Epub 2019 Oct 19.

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1002/mgg3.1006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900373PMC
December 2019

Duplication in the Gene Associated With Severe CHARGE Syndrome.

Genomics Insights 2019 2;12:1178631019839010. Epub 2019 Apr 2.

Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.

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http://dx.doi.org/10.1177/1178631019839010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446253PMC
April 2019