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Mélanie Fradin | Researchclopedia

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Mélanie Fradin

Institut de génétique et de développement de Rennes ORCID

148

Works

3,296

Citations

31

h-index

63

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

Affiliations

Université de Tours2019–2019

Hôpital Necker-Enfants Malades2009–2012

Centre National de la Recherche Scientifique2019–2022

St Thomas' Hospital2020–2020

Penn Presbyterian Medical Center2025–2025

Top Works

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

Claire Redin,Bénédicte Gérard,et al.

2014272 citations

Congenital heart defects research

Cardiomyopathy and Myosin Studies

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Karim Wahbi,Rabah Ben Yaou,et al.

2019251 citations

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow,Henrike Heyne,et al.

2018223 citations

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger,Amale Ichkou,et al.

2014121 citations

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Marie Coutelier,Giulia Coarelli,et al.

2017112 citations

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Elouan Chérot,Boris Keren,et al.

2017107 citations

Identification of CANT1 Mutations in Desbuquois Dysplasia

Céline Huber,Bénédicte Oulès,et al.

2009105 citations

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Abdelkader Heddar,Çağrı Oğur,et al.

202286 citations

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Ana S.A. Cohen,Damian Yap,et al.

201585 citations