Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency

Guillaume Bollée, Cécile Dollinger, Lucile Boutaud, +7

Journal of the American Society of Nephrology

UrologyGenotype CharacterizationRenal FunctionGenetic DisorderMedicine +12

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

Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, +32

Human Mutation

Developmental AnomalyClinical DisordersRare DiseasesDevelopmental BiologyExternal Ear Anomalies +13

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

Caroline Alby, Valérie Malan, Lucile Boutaud, +13

Birth Defects Research Part A Clinical and Molecular Teratology

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, +21

European Journal of Medical Genetics

Ciliopathy-associated Gene Cplane1Joubert SyndromeGenetic DisorderGeneticsNovel Mutations +6

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, +30

Clinical Genetics

Novel de novo <i>ZBTB20</i> mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

Caroline Alby, Lucile Boutaud, Bettina Bessières, +21

American Journal of Medical Genetics Part A

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, +15

Brain Sciences

Loss of function <i>IFT27</i> variants associated with an unclassified lethal fetal ciliopathy with renal agenesis

Chloé Quēlin, Philippe Loget, Lucile Boutaud, +8

American Journal of Medical Genetics Part A

GeneticsRenal PathologyRenal AgenesisSevere CiliopathyPathology +18

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

Marion Aubert‐Mucca, Céline Huber, Geneviève Baujat, +7

Journal of Medical Genetics

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

Aude Tessier, Nathalie Roux, Lucile Boutaud, +13

Acta Neuropathologica Communications