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List of works by Audrey Putoux

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

scientific article published on 23 November 2011
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

scientific article published on 19 January 2011
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

scientific article
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency

scientific article published on 25 March 2014
BBS10 mutations are common in 'Meckel'-type cystic kidneys

scientific article published on 30 August 2010
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA.

scientific article
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

scientific article published on 27 December 2017
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

scientific article published on 28 March 2019
Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

scientific article published on 01 January 2016
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

scientific article published on 11 February 2019
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

scientific article published on 07 June 2019
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

scientific article published on 01 February 2019
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

scientific article published on 05 December 2019
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants

scientific article published on 01 November 2019
Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

scientific article published on 27 August 2019
Jacobsen and Beckwith-Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy

scientific article published on 15 January 2013
Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice

scientific article published on 01 March 2019
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

scientific article published on 30 March 2020
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset

scientific article published on 15 July 2019
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

scientific article published on 27 February 2020
A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

scientific article published on 18 March 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

scientific article published on 22 June 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

scientific article published on 10 November 2020
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

scientific article published on 06 July 2020
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

scientific article published on 10 December 2018
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

scientific article published on 07 January 2021
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

scientific article published on 10 April 2020
Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity

scientific article published on 06 March 2020
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

scientific article published on 28 August 2020
Next-Generation Sequencing in a Series of 80 Fetuses with Complex Cardiac Malformations and/or Heterotaxy

scientific article published on 01 November 2020
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome

scientific article published on 07 May 2019
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

scientific article published in 2023

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