Audrey Putoux
Hospices Civils de Lyon(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Prenatal Screening and Diagnostics
Most-Cited Works
- → KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes(2011)241 cited
- → Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum(2011)129 cited
- → Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders(2020)107 cited
- → Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney(2011)87 cited
- → Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders(2019)82 cited
- → Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation(2022)74 cited
- → A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency(2014)64 cited
- → KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis(2017)58 cited
- → IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients(2018)57 cited
- → Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation(2020)52 cited