Nolwenn Jean‐Marçais
Institut de génétique et de développement de Rennes(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis(2017)197 cited
- → Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants(2020)187 cited
- → Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans(2017)154 cited
- → A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis(2018)77 cited
- → ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder(2019)66 cited
- → Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing(2019)62 cited
- → Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis(2016)52 cited
- → Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations(2020)34 cited
- → De novo variants in CNOT3 cause a variable neurodevelopmental disorder(2019)31 cited
- → Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)(2019)29 cited