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List of works by Claire Redin

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

scientific article

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

scientific article published on 03 June 2016

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

scientific article published in October 2014

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

scientific article

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

scientific article published on 9 January 2018

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

scientific article published on 14 January 2016

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

scientific article published on 8 February 2017

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

scientific article published on 13 October 2016

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

scientific article

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

scientific article

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

scientific article published on 3 May 2016

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing.

scientific article published in August 2013

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

scientific article

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