Olivier Roche
Centre Chirurgical Marie Lannelongue(FR)
Publications by Year
Research Areas
Orthopaedic implants and arthroplasty, Total Knee Arthroplasty Outcomes, Orthopedic Infections and Treatments, Shoulder Injury and Treatment, Retinal Development and Disorders
Most-Cited Works
- → Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6(2011)339 cited
- → Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations(2012)214 cited
- → Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy(2012)145 cited
- → Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome(2016)144 cited
- → Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling(2006)129 cited
- → Ophthalmologic findings in suspected child abuse victims with subdural hematomas(2003)110 cited
- → TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy(2009)101 cited
- → Surgical management of the infected reversed shoulder arthroplasty: a French multicenter study of reoperation in 32 patients(2015)99 cited
- → Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form(2013)97 cited
- Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.(2007)