Beatrice Laudier

Orleans, France

Last Updated: 09/26/2026

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Found 12 publications

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

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

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

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

Published: October 01, 2025

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Journal: Journal of medical genetics

Published: January 10, 2022

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Journal: Clinical genetics

Published: October 21, 2021

New mitochondrial DNA mutation in Leber's hereditary optic neuropathy: A case report

New mitochondrial DNA mutation in Leber's hereditary optic neuropathy: A case report

Journal: Journal francais d'ophtalmologie

Published: October 13, 2017

Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature.

Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature.

Journal: American journal of medical genetics. Part A

Published: December 16, 2014

Aquagenic palmar keratoderma in a patient heterozygous for the mutation c.3197G>C in the CFTR gene

Aquagenic palmar keratoderma in a patient heterozygous for the mutation c.3197G>C in the CFTR gene

Journal: Annales de dermatologie et de venereologie

Published: May 03, 2014

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.

Journal: Orphanet journal of rare diseases

Published: February 10, 2014

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.

Journal: Neurogenetics

Published: October 18, 2013

Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.

Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.

Journal: American journal of medical genetics. Part A

Published: March 18, 2013

Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.

Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.

Journal: European journal of medical genetics

Published: December 19, 2012

FG syndrome: the FGS2 locus revisited.

FG syndrome: the FGS2 locus revisited.

Journal: American journal of medical genetics. Part A

Published: December 20, 2011

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Last Updated: 09/26/2026