Concepedia

Stéphane Romano

SR

5

Publications

644

Citations

5

H-Index

2006

Active since

Affiliations

Hôpital Necker-Enfants Malades(Current)

Inserm

Université Paris Cité

Délégation Paris 5

University of Messina

Stéphane Romano is an author at Hôpital Necker-Enfants Malades specializing in medicine, molecular genetics, and genetics.

Top concepts

MedicineGeneticsMolecular GeneticsPathologyPathogenesisClinical GeneticsMonogenic DisordersDevelopmental BiologyInherited Metabolic DiseaseUrology

Publications per year

2006–2010

5

Publications

5

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Lekbir Baala, Stéphane Romano, Rana Khaddour et al. · The American Journal of Human Genetics · 2006 · 235 citations · Full text

Developmental Biology, Mendelian Disorder, Joubert Syndrome +9

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy et al. · The American Journal of Human Genetics · 2007 · 156 citations

Urology, Genetic Disorder, Genetics +10

Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

Stéphane Romano, Vassili Valayannopoulos, Guy Touati et al. · The Journal of Pediatrics · 2009 · 136 citations

Transplantation, Hepatology, Kidney Transplantation +4

<i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker‐Ravi et al. · Human Mutation · 2009 · 87 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +15

Multiple sources of metabolic disturbance in<i>ETHE1</i>‐related ethylmalonic encephalopathy

Magalie Barth, Chris Ottolenghi, Laurence Hubert et al. · Journal of Inherited Metabolic Disease · 2010 · 30 citations

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