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S. Romano · SciRah

Researcher profile · Semantic Scholar

S. Romano

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S. Romano — researcher profile on SciRah

h-index: 15
Works: 19
Citations: 1,092

Most-cited papers

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
L. Baala, S. Romano, Rana Khaddour, S. Saunier +17 more
2007American Journal of Human Genetics253 citations Open access
Semantic Scholar
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
F. Brancati, Giuseppe Barrano, J. Silhavy, S. E. Marsh +29 more
2007American Journal of Human Genetics158 citations Open access
Semantic Scholar
Cardiomyopathies in propionic aciduria are reversible after liver transplantation.
S. Romano, V. Valayannopoulos, G. Touati, J. Jais +4 more
2010Jornal de Pediatria128 citations
Semantic Scholar
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
S. Mougou-Zerelli, S. Thomas, Emmanuelle Szenker, S. Audollent +28 more
2009Human Mutation95 citations Open access
Semantic Scholar
Posterior fossa imaging in 158 children with ataxia.
N. Boddaert, I. Desguerre, N. Bahi-buisson, S. Romano +13 more
2010Journal of neuroradiology. Journal de neuroradiologie63 citations
Semantic Scholar
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.
J. Arnoux, N. Boddaert, V. Valayannopoulos, S. Romano +8 more
2008Molecular Genetics and Metabolism57 citations
Semantic Scholar
Development of liver disease despite mannose treatment in two patients with CDG-Ib.
K. Mention, F. Lacaille, V. Valayannopoulos, S. Romano +8 more
2008Molecular Genetics and Metabolism50 citations
Semantic Scholar
Expanding CEP290 mutational spectrum in ciliopathies
L. Travaglini, F. Brancati, T. Attié-Bitach, S. Audollent +163 more
2009American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
S. Monnot, V. Serre, B. Chadefaux-Vekemans, J. Aupetit +6 more
2009Human Mutation37 citations Open access
Semantic Scholar
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
N. Boddaert, S. Romano, Benoît Funalot, Marlène Rio +11 more
2008Molecular Genetics and Metabolism34 citations
Semantic Scholar
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
N. Brahimi, M. Jambou, Emmanuelle Sarzi, V. Serre +8 more
2009Molecular Genetics and Metabolism33 citations
Semantic Scholar
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
M. Barth, C. Ottolenghi, L. Hubert, D. Chrétien +14 more
2010Journal of Inherited Metabolic Disease29 citations
Semantic Scholar
Molar Tooth Sign and Superior Vermian Dysplasia: A Radiological, Clinical, and Genetic Study
S. Romano, N. Boddaert, I. Desguerre, L. Hubert +9 more
2006Neuropediatrics29 citations
Semantic Scholar
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
S. Romano, F. Bajolle, V. Valayannopoulos, S. Lyonnet +11 more
2009Journal of Medical Genetics27 citations
Semantic Scholar
What’s new in metabolic and genetic hypoglycaemias: diagnosis and management
V. Valayannopoulos, S. Romano, K. Mention, A. Vassault +5 more
2008European Journal of Pediatrics27 citations
Semantic Scholar
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12
V. Valayannopoulos, L. Hubert, J. Benoist, S. Romano +10 more
2009Journal of Inherited Metabolic Disease14 citations
Semantic Scholar
Variable outcome of growth hormone administration in respiratory chain deficiency.
S. Romano, D. Samara, H. Crosnier, V. Valayannopoulos +6 more
2008Molecular Genetics and Metabolism9 citations
Semantic Scholar
Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation
F. Molinari, S. Romano, François Foulquier, W. Morelle +12 more
20077 citations
Semantic Scholar
Iconography : Posterior fossa imaging in 158 children with ataxia
N. Boddaert, I. Desguerre, N. Bahi-Buisson, S. Romano +13 more
20100 citations
Semantic Scholar

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