Lucile Boutaud

Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

Guillaume Bollée, Cécile Dollinger, Lucile Boutaud et al. · Journal of the American Society of Nephrology · 2010 · 131 citations

Urology, Genotype Characterization, Renal Function +14

Delineation of<i>EFTUD2</i>Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem et al. · Human Mutation · 2014 · 57 citations

Developmental Anomaly, Clinical Disorders, Rare Diseases +15

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

Caroline Alby, Valérie Malan, Lucile Boutaud et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2015 · 47 citations

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni et al. · European Journal of Medical Genetics · 2018 · 36 citations

Ciliopathy-associated Gene Cplane1, Joubert Syndrome, Genetic Disorder +8

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of <scp><i>PDCL3</i></scp> as a novel candidate gene

Clarisse Billon, Arnaud Molin, Céline Poirsier et al. · Clinical Genetics · 2020 · 24 citations