Valérie Pelletier

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit <i>BBIP1</i> (<i>BBS18</i>)

Sophie Scheidecker, Christelle Etard, Nathan W. Pierce et al. · Journal of Medical Genetics · 2013 · 138 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Valérie Pelletier, Marguerite Jambou, Nathalie Delphin et al. · Human Mutation · 2006 · 130 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

Agnès Bloch‐Zupan, Xavier Jamet, Christelle Etard et al. · The American Journal of Human Genetics · 2011 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel et al. · EMBO Molecular Medicine · 2020 · 67 citations · Full text

Life Sciences, Genetics, Molecular Biology +6

Lower Levels of Antiretroviral Therapy Enrollment Among Men with HIV Compared with Women — 12 Countries, 2002–2013

Andrew F. Auld, Ray W. Shiraishi, Francisco Mbofana et al. · MMWR Morbidity and Mortality Weekly Report · 2015 · 60 citations · Full text

Public Health, Health Policy, Infectious Disease Control +15