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Renaud Touraine | Researchclopedia

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Renaud Touraine

Centre Hospitalier Universitaire de Saint-Étienne ORCID

233

Works

7,015

Citations

46

h-index

106

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Tuberous Sclerosis Complex Research Genomic variations and chromosomal abnormalities

Affiliations

Université Claude Bernard Lyon 12017–2017

Hôpital Necker-Enfants Malades2000–2000

Seattle Children's Hospital2020–2020

National Institutes of Health1998–1998

Hudson Institute2019–2019

Top Works

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters,Sébastien Jacquemont,et al.

2010557 citations

Genomics and Rare Diseases

RNA modifications and cancer

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

J.C. Kingswood,Guillaume Beaure d’Augères,et al.

2017275 citations

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadège Bondurand,Florence Dastot‐Le Moal,et al.

2007258 citations

Epilepsy in tuberous sclerosis complex: Findings from the <scp>TOSCA</scp> Study

Rima Nabbout,Elena Belousova,et al.

2018232 citations

Association of TALS Developmental Disorder with Defect in Minor Splicing Component <i>U4atac</i> snRNA

Patrick Edery,Charles Marcaillou,et al.

2011225 citations

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

Petrus J. de Vries,Elena Belousova,et al.

2018185 citations

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Renaud Touraine,Tania Attié‐Bitach,et al.

2000168 citations

Mutations in <i>SETD2</i> cause a novel overgrowth condition

Armelle Luscan,Ingrid Laurendeau,et al.

2014142 citations

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz,Judith St‐Onge,et al.

2017136 citations