Agnès Bloch‐Zupan

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

David Parry, Alan J. Mighell, Walid El‐Sayed et al. · The American Journal of Human Genetics · 2009 · 166 citations · Full text

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Megana Prasad, Véronique Geoffroy, Serge Vicaire et al. · Journal of Medical Genetics · 2015 · 134 citations · Full text

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Amélie Reibel, Marie‐Cécile Manière, François Clauss et al. · Orphanet Journal of Rare Diseases · 2009 · 121 citations · Full text

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

Developmental Anomaly, Developmental Biology, Genetic Disorder +9

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Graciana Jaureguiberry, Muriel de La Dure‐Molla, David Parry et al. · Nephron Physiology · 2013 · 102 citations · Full text