Amélie Piton

Centre National de la Recherche Scientifique — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index9.1kcitations162works5.62yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genetics and Neurodevelopmental Disorders(88), Genomics and Rare Diseases(62), Genomic variations and chromosomal abnormalities(39), RNA modifications and cancer(20), Autism Spectrum Disorder Research(19)

Publications158 total

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
The American Journal of Human Genetics·2025Open Access
Autism-associated ARHGEF9 variants impair GABAergic synapses and ultrasonic communication by reducing gephyrin phosphorylation
Molecular Psychiatry·2025· 1 citedOpen Access
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Nature Genetics·2025· 1 citedOpen Access
Genome region aware CADD thresholds for noncoding variant prioritization
NAR Genomics and Bioinformatics·2025Open Access
The Spectrum of Neurologic Phenotypes Associated With <scp><i>NUS1</i></scp> Pathogenic Variants: A Comprehensive Case Series
Annals of Neurology·2025· 5 citedOpen Access
NOVA1/2 genes and alternative splicing in neurodevelopment
Current Opinion in Genetics & Development·2025· 4 citedOpen Access
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network
European Journal of Human Genetics·2025· 3 citedOpen Access
Explosive onset focal epilepsies without cortical malformation: A review of a pediatric cohort with pathogenic variations in the GATOR1 complex (DEPDC5, NPRL3 and NPRL2)
Seizure·2025· 1 cited
DYRK1A roles in human neural progenitors
Frontiers in Neuroscience·2025· 5 citedOpen Access
Splice site variants in the canonical donor site of <i>MED13L</i> exon 7 lead to intron retention in patients with <i>MED13L</i> syndrome
Journal of Medical Genetics·2024· 2 cited
The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders
Frontiers in Molecular Neuroscience·2024· 2 citedOpen Access
RNA variant assessment using transactivation and transdifferentiation
The American Journal of Human Genetics·2024· 15 citedOpen Access
Adaptor protein 2 sigma subunit ( <i>AP2S1</i> ) variants associated with neurodevelopmental disorders
2024· 1 citedOpen Access
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study
Pediatric Neurology·2024· 1 cited
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
Journal of Medical Genetics·2024· 4 citedOpen Access
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
Human Genetics and Genomics Advances·2024· 4 citedOpen Access
Les variants faux-sens rares dans KCNJ10 sont associés aux dyskinésies paroxystiques kinésigéniques
Revue Neurologique·2024
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
European Journal of Medical Genetics·2024· 18 citedOpen Access
Rare Missense Variants in <scp><i>KCNJ10</i></scp> Are Associated with Paroxysmal Kinesigenic Dyskinesia
Movement Disorders·2024· 8 citedOpen Access
Modeling neurodevelopmental disorder-associated human<i>AGO1</i>mutations in<i>Caenorhabditis elegans</i>Argonaute<i>alg-1</i>
Proceedings of the National Academy of Sciences·2024· 18 citedOpen Access
page 1 of 8Next →

Frequent Co-authors

Guy A. Rouleau(17), Julie Gauthier(12), Fadi F. Hamdan(12), Jean‐Louis Mandel(12), Ronald G. Lafrenière(10), Laurent Mottron(10), Pierre Drapeau(9), Dan Spiegelman(8), Ridha Joober(8), Boris Keren(8), Jean Muller(7), Claude Marineau(7), Édouard Henrion(7), Jacques L. Michaud(7), Éric Fombonne(7), Claire Redin(7), Gaëtan Lesca(7), Julien Thévenon(7), Bertrand Isidor(7), Marie‐Odile Krebs(6)